RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: neonatal period electroclinical syndrome
Accession: DOID:0050702
browse the term
Definition: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)
Synonyms: primary_id: RDO:9002461
alt_id: RDO:9002708
For additional species annotation, visit the
Alliance of Genome Resources .
G
TNK2
tyrosine kinase non receptor 2
ISO
ClinVar Annotator: match by term: Autosomal recessive infantile epilepsy
ClinVar
PMID:23686771 PMID:25741868 PMID:26595808
NCBI chr 3:193,254,017...193,302,863
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PRRT2
proline rich transmembrane protein 2
ISO
OMIM
Ensembl chr16:30,183,352...30,187,862
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar
NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
OMIM
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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SCN3A
sodium voltage-gated channel alpha subunit 3
ISO
ClinVar Annotator: match by term: Seizures, benign familial infantile, 3
ClinVar
PMID:21416599 PMID:21692795 PMID:21893419 PMID:23016767 PMID:23184456 PMID:26068938 PMID:27153334 PMID:28492532
NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
ClinVar
PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879
NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
OMIM
NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Benign familial neonatal seizures ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures
ClinVar
PMID:14534157 PMID:16235065 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18625963 PMID:19344764 PMID:21687499 PMID:21703448 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29383681 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879
NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Benign familial neonatal-infantile seizures ClinVar Annotator: match by term: Benign familial infantile convulsions ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar
PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
ISO
OMIM
NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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ALDH7A1
aldehyde dehydrogenase 7 family member A1
ISO
ClinVar Annotator: match by term: neonatal seizures
ClinVar
PMID:16491085 PMID:20554659 PMID:21733724 PMID:25741868 PMID:28492532
NCBI chr 5:121,946,527...122,000,273
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ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
ISO
RGD
PMID:12953268
RGD:1358436
NCBI chr 1:135,469,495...135,497,303
Ensembl chr 1:139,390,549...139,418,303
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Benign Neonatal Epilepsy ClinVar Annotator: match by term: Benign familial neonatal seizures
ClinVar
PMID:16235065 PMID:17765802 PMID:18625963 PMID:19344764 PMID:21703448 PMID:23596459 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:128,769,930...129,134,671
Ensembl chr 8:131,755,454...131,815,237
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: neonatal seizures
ClinVar
PMID:14635118 PMID:16919951 PMID:20185557 PMID:21357833 PMID:21550804 PMID:21880868 PMID:25741868 PMID:28492532
NCBI chr15:68,008,214...68,028,241
Ensembl chr15:87,214,451...87,234,739
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Epilepsy, benign neonatal-infantile ClinVar Annotator: match by term: Benign Neonatal Epilepsy
ClinVar
PMID:11738931 PMID:15048894 PMID:18414213 PMID:18479388 PMID:19702560 PMID:20956790 PMID:22029951 PMID:22581653 PMID:22591750 PMID:23550958 PMID:23849776 PMID:23934111 PMID:23935176 PMID:24579881 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25772804 PMID:25818041 PMID:25937001 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28379373 PMID:28492532 PMID:28628100 PMID:28708303 PMID:29186148 PMID:32860008
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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CCDC120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552
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ERAS
ES cell expressed Ras
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,125,895...41,127,757
Ensembl chr X:48,986,812...48,987,513
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GATA1
GATA binding protein 1
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126
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GLOD5
glyoxalase domain containing 5
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,060,152...41,071,654
Ensembl chr X:48,920,747...48,932,442
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GRIPAP1
GRIP1 associated protein 1
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,271,762...41,300,327
Ensembl chr X:49,128,760...49,157,059
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HDAC6
histone deacetylase 6
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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KCND1
potassium voltage-gated channel subfamily D member 1
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,258,803...41,270,036
Ensembl chr X:49,115,933...49,127,030
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OTUD5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,219,536...41,256,219
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PCSK1N
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,128,785...41,133,284
Ensembl chr X:48,988,948...48,990,028
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PIM2
Pim-2 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,210,494...41,216,552
Ensembl chr X:49,068,721...49,074,731
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PQBP1
polyglutamine binding protein 1
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,188,244...41,200,312
Ensembl chr X:49,053,030...49,058,585
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PRAF2
PRA1 domain family member 2
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,369,432...41,372,322
Ensembl chr X:49,224,864...49,233,960
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SUV39H1
suppressor of variegation 3-9 homolog 1
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:40,993,911...41,007,362
Ensembl chr X:48,855,494...48,868,131
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TFE3
transcription factor binding to IGHM enhancer 3
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,326,802...41,341,574
Ensembl chr X:49,182,795...49,197,194
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TIMM17B
translocase of inner mitochondrial membrane 17B
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,191,130...41,195,561
Ensembl chr X:49,049,175...49,053,452
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WAS
WASP actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380
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WDR45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
ClinVar
PMID:28492532
NCBI chr X:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960
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GAD1
glutamate decarboxylase 1
ISO
OMIM
NCBI chr2B:58,100,623...58,145,045
Ensembl chr2B:175,558,538...175,602,944
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Dravet syndrome
ClinVar
NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
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SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
OMIM
NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Dravet syndrome ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398
NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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SNX27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar Annotator: match by term: Dravet syndrome
ClinVar
PMID:28492532
NCBI chr 1:126,968,370...127,052,942
Ensembl chr 1:130,612,787...130,695,863
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ABHD16B
abhydrolase domain containing 16B
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,783,486...61,784,895
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AK1
adenylate kinase 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,987,348...98,997,252
Ensembl chr 9:127,657,338...127,678,245
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ARFRP1
ADP ribosylation factor related protein 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,622,386...61,630,949
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ARHGEF15
Rho guanine nucleotide exchange factor 15
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:23647072 PMID:25741868 PMID:28492532
NCBI chr17:43,336,764...43,349,787
Ensembl chr17:48,070,223...48,082,499
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BBLN
bublin coiled coil protein
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,281,258...99,284,930
Ensembl chr 9:127,951,037...127,954,779
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30410802
NCBI chr 3:50,288,926...50,430,152
Ensembl chr 3:51,526,075...51,640,406
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CDK9
cyclin dependent kinase 9
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,905,468...98,909,923
Ensembl chr 9:127,580,862...127,584,935
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CEND1
cell cycle exit and neuronal differentiation 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:804,517...807,608
Ensembl chr11:849,678...850,127
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CERCAM
cerebral endothelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,541,795...99,560,234
Ensembl chr 9:128,210,576...128,226,175
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CFAP157
cilia and flagella associated protein 157
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,825,719...98,834,780
Ensembl chr 9:127,497,791...127,506,177
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
NCBI chr20:59,730,759...59,748,678
Ensembl chr20:61,270,631...61,283,005
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CIZ1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449
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COQ4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,444,414...99,457,281
Ensembl chr 9:128,111,957...128,124,918
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CSRNP3
cysteine and serine rich nuclear protein 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532
NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
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DEAF1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:652,337...709,854
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DNAJC5
DnaJ heat shock protein family (Hsp40) member C5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,848,236...61,856,265
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DNM1
dynamin 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
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DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,055,271...99,058,058
Ensembl chr 9:127,725,780...127,729,589
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DRD4
dopamine receptor D4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:640,401...646,775
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EEF1A2
eukaryotic translation elongation factor 1 alpha 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,412,122...61,421,735
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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EPS8L2
EPS8 like 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:720,528...741,623
Ensembl chr11:765,689...787,128
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FAM102A
family with sequence similarity 102 member A
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,061,030...99,101,144
Ensembl chr 9:127,731,243...127,771,098
G
FNDC11
fibronectin type III domain containing 11
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,481,269...61,482,225
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FPGS
folylpolyglutamate synthase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,921,986...98,933,542
Ensembl chr 9:127,593,592...127,604,200
G
GABRA2
gamma-aminobutyric acid type A receptor subunit alpha2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:29422393
NCBI chr 4:75,762,568...75,913,708
Ensembl chr 4:86,491,837...86,638,166
G
GALNT3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532
NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
G
GATD1
glutamine amidotransferase like class 1 domain containing 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:784,569...794,911
Ensembl chr11:833,230...839,421
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GLE1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,627,336...99,664,537
Ensembl chr 9:128,294,607...128,331,301
G
GMEB2
glucocorticoid modulatory element binding protein 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,513,870...61,544,993
G
GNAO1
G protein subunit alpha o1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:23993195 PMID:25741868 PMID:25966631 PMID:26060304 PMID:26467025 PMID:26485252 PMID:27068059 PMID:27072799 PMID:27625011 PMID:27864847 PMID:28202424 PMID:28357411 PMID:28492532 PMID:28688840 PMID:28747448 PMID:28817111 PMID:29390993 PMID:32581362
NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
G
GOLGA2
golgin A2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,376,847...99,397,128
Ensembl chr 9:128,047,056...128,065,137
G
GOT2
glutamic-oxaloacetic transaminase 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:25741868 PMID:31422819
NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:20437590 PMID:22131395 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 PMID:28488083 PMID:28492532
NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
G
HELZ2
helicase with zinc finger 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,483,623...61,498,083
G
HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
G
KCNB1
potassium voltage-gated channel subfamily B member 1
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar Annotator: match by term: developmental encephalopathy with epilepsy
ClinVar
PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362
NCBI chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521
G
KCNH5
potassium voltage-gated channel subfamily H member 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532
NCBI chr14:43,297,114...43,633,275
Ensembl chr14:61,560,600...61,889,137
G
LCN2
lipocalin 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798
G
LIME1
Lck interacting transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G
LMNTD2
lamin tail domain containing 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:559,779...564,584
Ensembl chr11:588,816...594,794
G
LOC100972845
cytochrome b561 domain-containing protein 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18487195 PMID:23339110 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:50,276,985...50,280,196
Ensembl chr 3:51,512,141...51,515,481
G
LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
G
NAIF1
nuclear apoptosis inducing factor 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,181,980...99,188,002
Ensembl chr 9:127,853,002...127,859,049
G
ODF2
outer dense fiber of sperm tails 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,577,891...99,623,581
Ensembl chr 9:128,245,049...128,291,202
G
PHRF1
PHD and ring finger domains 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:579,487...608,251
Ensembl chr11:616,738...647,496
G
PIGP
phosphatidylinositol glycan anchor biosynthesis class P
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28334793 PMID:31139695 PMID:32042915
NCBI chr21:23,427,190...23,435,170
Ensembl chr21:36,781,890...36,789,748
G
PIP5KL1
phosphatidylinositol-4-phosphate 5-kinase like 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,041,687...99,051,031
Ensembl chr 9:127,712,944...127,722,332
G
PPDPF
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,446,522...61,447,653
G
PTGES2
prostaglandin E synthase 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,241,257...99,249,022
Ensembl chr 9:127,912,363...127,918,036
G
PTK6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,453,386...61,462,951
G
PTRH1
peptidyl-tRNA hydrolase 1 homolog
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,813,010...98,835,732
Ensembl chr 9:127,484,509...127,507,753
G
RASSF7
Ras association domain family member 7
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:561,525...569,852
Ensembl chr11:596,433...598,823
G
RTEL1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar
PMID:1868258 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12535936 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15277629 PMID:15508916 PMID:15694566 PMID:16075041 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:16865694 PMID:17054684 PMID:17054685 PMID:17129991 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17679682 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18330841 PMID:18413471 PMID:18414213 PMID:18479393 PMID:18554359 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19303743 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19589774 PMID:19763161 PMID:19782004 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20431604 PMID:20452746 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20738378 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21416599 PMID:21425109 PMID:21692795 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21844054 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23016767 PMID:23086956 PMID:23103419 PMID:23184456 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24097157 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24472396 PMID:24502503 PMID:24623842 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25524840 PMID:25576396 PMID:25669891 PMID:25741868 PMID:25818041 PMID:25885068 PMID:26068938 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26252084 PMID:26339958 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27029629 PMID:27066544 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27652284 PMID:27781031 PMID:27864847 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28492532 PMID:28544625 PMID:28708303 PMID:28794249 PMID:28842445 PMID:28951233 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30182498 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:30977726 PMID:31001185 PMID:31009440 PMID:31791873 PMID:32238909 PMID:32581362
NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
G
SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
G
SCN3A
sodium voltage-gated channel alpha subunit 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532
NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
G
SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25741868 PMID:25785782 PMID:25849321 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235739 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26900580 PMID:26993267 PMID:27210545 PMID:27779742 PMID:27781031 PMID:27864847 PMID:27875746 PMID:27900360 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29121005 PMID:29186148 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30109124 PMID:30171078 PMID:30615093
NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
G
SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28202706 PMID:28492532
NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
G
SCT
secretin
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:632,073...634,296
G
SH2D3C
SH2 domain containing 3C
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,858,018...98,899,661
Ensembl chr 9:127,530,733...127,571,016
G
SLC25A22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar Annotator: match by term: Ohtahara syndrome
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28255779 PMID:28492532
NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
G
SLC25A25
solute carrier family 25 member 25
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,188,906...99,229,771
Ensembl chr 9:127,859,948...127,900,922
G
SLC27A4
solute carrier family 27 member 4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,463,338...99,483,802
Ensembl chr 9:128,133,365...128,151,077
G
SLC2A4RG
SLC2A4 regulator
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18414213 PMID:18469812 PMID:22258530 PMID:25224718 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26704558 PMID:26865513 PMID:28199897 PMID:28492532 PMID:29264391 PMID:29358611 PMID:29655203
NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
G
SRMS
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,465,539...61,473,057
G
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
G
ST6GALNAC4
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,027,846...99,037,025
Ensembl chr 9:127,699,013...127,708,515
G
ST6GALNAC6
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,005,336...99,025,296
Ensembl chr 9:127,677,841...127,697,880
G
STMN3
stathmin 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
G
STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18414213 PMID:18469812 PMID:19557857 PMID:20876469 PMID:20887364 PMID:21762454 PMID:21770924 PMID:22211739 PMID:22495311 PMID:22722545 PMID:23409955 PMID:23662938 PMID:23708187 PMID:23757202 PMID:23934111 PMID:24033266 PMID:24189369 PMID:24315539 PMID:24623842 PMID:24781210 PMID:25008876 PMID:25131622 PMID:25356970 PMID:25418441 PMID:25497044 PMID:25556537 PMID:25693842 PMID:25714420 PMID:25741868 PMID:26384463 PMID:26467025 PMID:26514728 PMID:26544041 PMID:26633542 PMID:26648591 PMID:26795593 PMID:26865513 PMID:26918652 PMID:26993267 PMID:27069701 PMID:27171548 PMID:27184330 PMID:27779742 PMID:28133863 PMID:28387360 PMID:28387369 PMID:28492532 PMID:28628100 PMID:28947817 PMID:29186148 PMID:29264391 PMID:29314583 PMID:29896790 PMID:30109124 PMID:31255830 PMID:31474318 PMID:32238909 PMID:32581362
NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
G
SWI5
SWI5 homologous recombination repair protein
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,396,439...99,410,054
Ensembl chr 9:128,064,569...128,078,380
G
TALDO1
transaldolase 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:764,864...782,548
Ensembl chr11:809,751...826,744
G
TMEM80
transmembrane protein 80
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:709,907...719,140
Ensembl chr11:754,169...763,695
G
TNFRSF6B
TNF receptor superfamily member 6b
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,618,321...61,621,611
G
TOR2A
torsin family 2 member A
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,851,255...98,855,086
Ensembl chr 9:127,523,547...127,527,403
G
TPD52L2
TPD52 like 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,787,310...61,808,876
G
TRUB2
TruB pseudouridine synthase family member 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,427,032...99,444,440
Ensembl chr 9:128,098,221...128,111,909
G
TTC16
tetratricopeptide repeat domain 16
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:98,834,850...98,851,253
Ensembl chr 9:127,506,866...127,523,545
G
TTC21B
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:16865694 PMID:17561957 PMID:18479393 PMID:19400878 PMID:20522430 PMID:21416599 PMID:21692795 PMID:21719429 PMID:23016767 PMID:23184456 PMID:25524840 PMID:26068938 PMID:28492532
NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
G
UBA5
ubiquitin like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531
NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
G
URM1
ubiquitin related modifier 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:18469812 PMID:26865513 PMID:28492532 PMID:29264391
NCBI chr 9:99,492,453...99,513,046
Ensembl chr 9:128,160,984...128,179,700
G
ZBTB46
zinc finger and BTB domain containing 46
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,667,319...61,713,895
G
ZGPAT
zinc finger CCCH-type and G-patch domain containing
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar
PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089
Ensembl chr20:61,630,271...61,662,967
G
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr X:100,794,882...100,874,083
Ensembl chr X:111,253,717...111,332,534
G
ARX
aristaless related homeobox
ISO
OMIM
NCBI chr X:17,598,858...17,612,544
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
G
CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611
NCBI chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438
G
CSNK1E
casein kinase 1 epsilon
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr22:19,202,599...19,229,344
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
G
GNAO1
G protein subunit alpha o1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747641
NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
G
KCNA2
potassium voltage-gated channel subfamily A member 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532
NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
G
MAF
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993
NCBI chr16:60,188,494...60,194,871
G
NAPB
NSF attachment protein beta
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr20:23,316,153...23,363,142
Ensembl chr20:23,667,469...23,713,935
G
NRXN2
neurexin 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr11:59,959,917...60,078,093
Ensembl chr11:63,303,659...63,409,687
G
PLCB1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
G
POLA1
DNA polymerase alpha 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:28492532
NCBI chr X:17,290,805...17,592,163
Ensembl chr X:24,657,878...24,960,231
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
G
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
G
SYNJ1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
G
SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar
PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402
NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
G
WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar Annotator: match by term: OHTAHARA SYNDROME, X-LINKED
ClinVar
PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
G
SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
OMIM
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
G
PLCB1
phospholipase C beta 1
ISO
OMIM
NCBI chr20:8,106,665...8,858,572
Ensembl chr20:7,887,960...8,636,019
G
PNKP
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar
PMID:10446192 PMID:11112660 PMID:15381417 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:23708187 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:26993267 PMID:27066567 PMID:27066586 PMID:27232581 PMID:28492532 PMID:29056246 PMID:29261713 PMID:29498415 PMID:29655203 PMID:29720203 PMID:29924869 PMID:30039206 PMID:31061747
NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
G
SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
OMIM
NCBI chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357
G
C9H9orf163
chromosome 9 C9orf163 homolog
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,561,734...107,562,397
G
CAMSAP1
calmodulin regulated spectrin associated protein 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911
G
CARD9
caspase recruitment domain family member 9
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756
G
DNLZ
DNL-type zinc finger
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,432,709...107,436,360
G
ENTR1
endosome associated trafficking regulator 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414
G
GPSM1
G protein signaling modulator 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561
G
INPP5E
inositol polyphosphate-5-phosphatase E
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
G
KCNT1
potassium sodium-activated channel subfamily T member 1
ISO
OMIM
NCBI chr 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482
G
LHX3
LIM homeobox 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366
G
NACC2
NACC family member 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176
G
NOTCH1
notch receptor 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
G
PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569
G
QSOX2
quiescin sulfhydryl oxidase 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774
G
SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy
ClinVar
PMID:25741868
NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
G
SEC16A
SEC16 homolog A, endoplasmic reticulum export factor
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655
G
SNAPC4
small nuclear RNA activating complex polypeptide 4
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653
G
TMEM250
transmembrane protein 250
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292
G
UBAC1
UBA domain containing 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
ClinVar
PMID:28492532
NCBI chr 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046
G
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
OMIM
NCBI chr 1:43,006,963...43,232,968
Ensembl chr 1:44,409,904...44,603,658
G
TBC1D24
TBC1 domain family member 24
ISO
OMIM
NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
G
GNAO1
G protein subunit alpha o1
ISO
OMIM
NCBI chr16:36,473,852...36,643,789
Ensembl chr16:55,606,920...55,776,619
G
SZT2
SZT2 subunit of KICSTOR complex
ISO
OMIM
NCBI chr 1:42,691,292...42,754,046
Ensembl chr 1:44,068,998...44,129,456
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
OMIM
NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117
G
BEND2
BEN domain containing 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:10,786,031...10,844,265
Ensembl chr X:18,151,097...18,208,838
G
CDKL5
cyclin dependent kinase like 5
severity
ISO
DNA:mutations:cds:
OMIM RGD
PMID:22678952
RGD:12791015
NCBI chr X:11,047,357...11,261,172
Ensembl chr X:18,492,329...18,638,735
G
NHS
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:9,988,584...10,359,110
Ensembl chr X:17,358,416...17,728,178
G
RAI2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:10,423,258...10,484,740
G
RS1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar
PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203
NCBI chr X:11,259,222...11,282,289
Ensembl chr X:18,624,687...18,657,315
G
SCML1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:10,360,555...10,378,123
Ensembl chr X:17,736,355...17,745,591
G
SCML2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:10,862,608...10,977,851
Ensembl chr X:18,226,256...18,344,155
G
C3AR1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381
G
CLEC4C
C-type lectin domain family 4 member C
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370
G
DPPA3
developmental pluripotency associated 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,834,298...7,841,064
G
FOXJ2
forkhead box J2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778
G
GDF3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815
G
NANOG
Nanog homeobox
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,913,037...7,919,715
G
NANOGNB
NANOG neighbor homeobox
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,888,876...7,897,769
G
NECAP1
NECAP endocytosis associated 1
ISO
OMIM
NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647
G
SLC2A14
solute carrier family 2 member 14
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
ClinVar
PMID:28492532
NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460
G
DOCK7
dedicator of cytokinesis 7
ISO
OMIM
NCBI chr 1:61,713,217...61,946,371
Ensembl chr 1:63,529,227...63,740,970
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
OMIM
NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761
G
AIPL1
aryl hydrocarbon receptor interacting protein like 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
G
KIAA0753
KIAA0753 ortholog
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083
G
MED31
mediator complex subunit 31
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,681,675...6,689,115
Ensembl chr17:6,669,582...6,676,882
G
PIMREG
PICALM interacting mitotic regulator
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,482,837...6,489,480
Ensembl chr17:6,471,520...6,478,156
G
PITPNM3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
G
SLC13A5
solute carrier family 13 member 5
ISO
OMIM
NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683
G
TXNDC17
thioredoxin domain containing 17
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25
ClinVar
PMID:28492532
NCBI chr17:6,678,375...6,680,902
Ensembl chr17:6,666,067...6,668,475
G
ARFGEF2
ADP ribosylation factor guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar
PMID:28492532
NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518
G
CSE1L
chromosome segregation 1 like
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar
PMID:28492532
NCBI chr20:45,386,124...45,436,283
Ensembl chr20:46,452,485...46,502,207
G
DDX27
DEAD-box helicase 27
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar
PMID:28492532
NCBI chr20:45,557,430...45,582,569
Ensembl chr20:46,621,585...46,647,238
G
KCNB1
potassium voltage-gated channel subfamily B member 1
ISO
OMIM
NCBI chr20:45,636,371...45,821,536
Ensembl chr20:46,776,274...46,885,521
G
STAU1
staufen double-stranded RNA binding protein 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar
PMID:28492532
NCBI chr20:45,452,639...45,526,512
Ensembl chr20:46,517,772...46,578,024
G
ZNFX1
zinc finger NFX1-type containing 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar
PMID:28492532
NCBI chr20:45,585,137...45,616,769
Ensembl chr20:46,642,081...46,681,289
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
OMIM
NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799
G
MBD5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: developmental delay with intractable seizures
ClinVar
PMID:28492532
NCBI chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042
G
NCF2
neutrophil cytosolic factor 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28
ClinVar
PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532
NCBI chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420
G
WWOX
WW domain containing oxidoreductase
ISO
OMIM
NCBI chr16:58,689,609...59,800,333
Ensembl chr16:78,125,302...79,231,546
G
AARS1
alanyl-tRNA synthetase 1
ISO
OMIM
NCBI chr16:54,727,601...54,763,458
Ensembl chr16:70,086,735...70,121,902
G
SLC25A22
solute carrier family 25 member 22
ISO
OMIM
NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
G
AGPAT3
1-acylglycerol-3-phosphate O-acyltransferase 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,120,899...30,243,438
Ensembl chr21:43,479,513...43,540,453
G
CSTB
cystatin B
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,030,359...30,032,899
G
GATD3A
glutamine amidotransferase like class 1 domain containing 3A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,391,586...30,403,698
G
HSF2BP
heat shock transcription factor 2 binding protein
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:29,787,768...29,916,089
Ensembl chr21:43,088,012...43,214,760
G
PWP2
PWP2 small subunit processome component
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,364,398...30,389,202
G
RRP1
ribosomal RNA processing 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401
G
RRP1B
ribosomal RNA processing 1B
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:29,916,109...29,952,749
Ensembl chr21:43,217,516...43,251,192
G
SIK1
salt inducible kinase 1
ISO
OMIM
NCBI chr21:29,675,040...29,689,408
G
TRAPPC10
trafficking protein particle complex 10
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30
ClinVar
PMID:28492532
NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740
G
CIZ1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31
ClinVar
PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:19084268 PMID:23977156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28667181 PMID:29668686
NCBI chr 9:99,282,821...99,325,404
Ensembl chr 9:127,956,915...127,982,449
G
DNM1
dynamin 1
ISO
OMIM
NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690
G
KCNA2
potassium voltage-gated channel subfamily A member 2
ISO
OMIM
NCBI chr 1:113,187,158...113,256,260
Ensembl chr 1:127,090,829...127,092,328
G
EEF1A2
eukaryotic translation elongation factor 1 alpha 2
ISO
OMIM
Ensembl chr20:61,412,122...61,421,735
G
PPDPF
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar
PMID:28492532
Ensembl chr20:61,446,522...61,447,653
G
SLC12A5
solute carrier family 12 member 5
ISO
OMIM
NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132
G
ITPA
inosine triphosphatase
ISO
OMIM
NCBI chr20:3,295,075...3,309,546
Ensembl chr20:3,056,395...3,070,924
G
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
ISO
OMIM
NCBI chr X:100,794,882...100,874,083
Ensembl chr X:111,253,717...111,332,534
G
DCX
doublecortin
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar
PMID:28492532
NCBI chr X:100,411,871...100,529,833
Ensembl chr X:110,875,032...110,988,582
G
FRRS1L
ferric chelate reductase 1 like
ISO
OMIM
NCBI chr 9:80,283,385...80,320,293
G
ARV1
ARV1 homolog, fatty acid homeostasis modulator
ISO
OMIM
NCBI chr 1:206,527,777...206,549,606
Ensembl chr 1:211,554,553...211,576,484
G
SLC25A12
solute carrier family 25 member 12
ISO
OMIM
NCBI chr2B:59,071,123...59,297,327
Ensembl chr2B:176,532,940...176,641,894
G
CDKL5
cyclin dependent kinase like 5
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
ClinVar
PMID:25741868
NCBI chr X:11,047,357...11,261,172
Ensembl chr X:18,492,329...18,638,735
G
LRSAM1
leucine rich repeat and sterile alpha motif containing 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
ClinVar
PMID:25741868
NCBI chr 9:98,571,796...98,623,581
Ensembl chr 9:127,245,508...127,297,645
G
NIBAN2
niban apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
ClinVar
PMID:25741868
NCBI chr 9:98,625,411...98,689,077
Ensembl chr 9:127,299,475...127,371,459
G
STXBP1
syntaxin binding protein 1
ISO
OMIM
NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
G
GUF1
GTP binding elongation factor GUF1
ISO
OMIM
NCBI chr 4:39,007,780...39,042,999
Ensembl chr 4:44,857,648...44,877,751
G
SLC1A2
solute carrier family 1 member 2
ISO
OMIM
NCBI chr11:35,223,811...35,392,799
Ensembl chr11:35,107,920...35,265,878
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
OMIM
NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
G
DPYD
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar
PMID:25741868
NCBI chr 1:99,736,145...100,576,663
Ensembl chr 1:98,457,934...99,300,100
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
OMIM
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
G
UBA5
ubiquitin like modifier activating enzyme 5
ISO
OMIM
NCBI chr 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147
G
GABRB1
gamma-aminobutyric acid type A receptor subunit beta1
ISO
OMIM
NCBI chr 4:74,727,321...75,164,407
Ensembl chr 4:85,459,225...85,857,321
G
GRIN2D
glutamate ionotropic receptor NMDA type subunit 2D
ISO
OMIM
NCBI chr19:45,392,258...45,447,004
G
FGF12
fibroblast growth factor 12
ISO
OMIM
NCBI chr 3:189,430,811...190,017,254
Ensembl chr 3:199,778,545...200,358,744
G
AP3B2
adaptor related protein complex 3 subunit beta 2
ISO
OMIM
NCBI chr15:62,888,359...62,938,758
Ensembl chr15:80,557,967...80,607,475
G
DENND5A
DENN domain containing 5A
ISO
OMIM
NCBI chr11:9,267,037...9,395,677
Ensembl chr11:9,006,855...9,077,241
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
OMIM
NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
G
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
ISO
OMIM
NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804
G
MDH2
malate dehydrogenase 2
ISO
OMIM
NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526
G
SCN1B
sodium voltage-gated channel beta subunit 1
ISO
OMIM
NCBI chr19:31,974,499...31,984,488
G
SYNJ1
synaptojanin 1
ISO
OMIM
NCBI chr21:18,990,526...19,088,839
Ensembl chr21:32,368,949...32,466,994
G
HNRNPU
heterogeneous nuclear ribonucleoprotein U
ISO
OMIM
NCBI chr 1:220,450,218...220,461,412
Ensembl chr 1:225,817,899...225,842,031
G
PIGP
phosphatidylinositol glycan anchor biosynthesis class P
ISO
OMIM
NCBI chr21:23,427,190...23,435,170
Ensembl chr21:36,781,890...36,789,748
G
YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
ISO
OMIM
NCBI chr 7:67,661,589...67,693,814
G
KCNT2
potassium sodium-activated channel subfamily T member 2
ISO
OMIM
NCBI chr 1:171,722,130...172,112,927
Ensembl chr 1:176,003,920...176,390,592
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
OMIM
NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
G
GABBR2
gamma-aminobutyric acid type B receptor subunit 2
ISO
OMIM
NCBI chr 9:69,377,091...69,799,867
Ensembl chr 9:97,500,904...97,790,605
G
CNPY3
canopy FGF signaling regulator 3
ISO
OMIM
NCBI chr 6:42,518,140...42,528,239
Ensembl chr 6:43,812,791...43,824,252
G
ADAM22
ADAM metallopeptidase domain 22
ISO
OMIM
NCBI chr 7:79,930,613...80,197,498
Ensembl chr 7:93,579,306...93,840,484
G
SCN3A
sodium voltage-gated channel alpha subunit 3
ISO
OMIM
NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
G
CPLX1
complexin 1
ISO
OMIM
NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
G
CYFIP2
cytoplasmic FMR1 interacting protein 2
ISO
OMIM
NCBI chr 5:152,667,136...152,796,575
Ensembl chr 5:159,292,029...159,418,077
G
PACS2
phosphofurin acidic cluster sorting protein 2
ISO
OMIM
NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349
G
NEXMIF
neurite extension and migration factor
ISO
ClinVar Annotator: match by term: Continuous spike and waves during slow-wave sleep syndrome
ClinVar
PMID:25741868 PMID:27358180 PMID:28492532 PMID:29693785
NCBI chr X:63,985,226...64,177,750
Ensembl chr X:74,107,799...74,114,635
G
ARHGEF9
Cdc42 guanine nucleotide exchange factor 9
ISO
OMIM
NCBI chr X:52,779,238...52,946,480
Ensembl chr X:62,862,115...63,010,512
G
GOT2
glutamic-oxaloacetic transaminase 2
ISO
OMIM
NCBI chr16:38,995,770...39,022,750
Ensembl chr16:58,120,781...58,147,378
G
PCDH19
protocadherin 19
ISO
OMIM
NCBI chr X:89,504,404...89,622,354
Ensembl chr X:99,643,595...99,759,631
G
SRPX2
sushi repeat containing protein X-linked 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098
NCBI chr X:89,854,389...89,886,776
Ensembl chr X:99,994,560...100,021,241
G
TNMD
tenomodulin
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098
NCBI chr X:89,795,752...89,810,791
Ensembl chr X:99,935,207...99,950,283
G
TSPAN6
tetraspanin 6
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9
ClinVar
PMID:23712037 PMID:27179713 PMID:28492532 PMID:29377098
NCBI chr X:89,840,067...89,848,114
Ensembl chr X:99,979,171...99,987,402
G
RHOBTB2
Rho related BTB domain containing 2
ISO
OMIM
NCBI chr 8:22,246,075...22,269,443
Ensembl chr 8:19,183,931...19,209,420
G
CUX2
cut like homeobox 2
ISO
OMIM
NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221
G
SH2B3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
ClinVar
PMID:20404132
NCBI chr12:108,977,344...109,024,029
G
TRAK1
trafficking kinesin protein 1
ISO
OMIM
NCBI chr 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068
G
CACNA1E
calcium voltage-gated channel subunit alpha1 E
ISO
OMIM
NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270
G
PHACTR1
phosphatase and actin regulator 1
ISO
OMIM
NCBI chr 6:12,560,862...13,136,126
Ensembl chr 6:12,922,871...13,505,609
G
TBC1D7
TBC1 domain family member 7
ISO
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70
ClinVar
PMID:23033978 PMID:30256902
NCBI chr 6:13,150,677...13,174,661
Ensembl chr 6:13,491,734...13,546,853
G
GLS
glutaminase
ISO
OMIM
NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323
G
NEUROD2
neuronal differentiation 2
ISO
OMIM
NCBI chr17:17,680,415...17,685,053
G
RNF13
ring finger protein 13
ISO
OMIM
NCBI chr 3:146,828,951...146,983,613
Ensembl chr 3:154,408,822...154,563,298
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
OMIM
NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179
G
PARS2
prolyl-tRNA synthetase 2, mitochondrial
ISO
OMIM
NCBI chr 1:54,032,594...54,040,274
Ensembl chr 1:55,622,726...55,624,750
G
ACTL6B
actin like 6B
ISO
OMIM
NCBI chr 7:92,670,166...92,683,571
Ensembl chr 7:106,070,839...106,083,646
G
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q
ISO
OMIM
Ensembl chr16:585,901...600,482
G
GABRA2
gamma-aminobutyric acid type A receptor subunit alpha2
ISO
OMIM
NCBI chr 4:75,762,568...75,913,708
Ensembl chr 4:86,491,837...86,638,166
G
GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
ISO
OMIM
NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
G
CCPG1
cell cycle progression 1
ISO
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
ClinVar
NCBI chr15:34,324,670...34,382,141
Ensembl chr15:52,647,392...52,701,880
G
PIGB
phosphatidylinositol glycan anchor biosynthesis class B
ISO
OMIM
NCBI chr15:34,288,600...34,325,079
Ensembl chr15:52,611,474...52,647,797
G
PIGBOS1
PIGB opposite strand 1
ISO
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
ClinVar
PMID:17343268 PMID:31256876
NCBI chr15:34,286,568...34,325,835
Ensembl chr15:52,610,151...52,610,315
G
DMXL2
Dmx like 2
ISO
OMIM
NCBI chr15:30,386,009...30,557,976
Ensembl chr15:48,719,150...48,890,708
G
UGP2
UDP-glucose pyrophosphorylase 2
ISO
OMIM
NCBI chr2A:63,906,778...63,959,346
Ensembl chr2A:65,043,871...65,084,175
G
UGDH
UDP-glucose 6-dehydrogenase
ISO
OMIM
NCBI chr 4:33,827,532...33,856,204
Ensembl chr 4:39,681,300...39,708,215
G
SMC1A
structural maintenance of chromosomes 1A
ISO
OMIM
NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
G
DALRD3
DALR anticodon binding domain containing 3
ISO
OMIM
NCBI chr 3:48,940,126...48,945,717
Ensembl chr 3:50,021,669...50,024,522
G
AMD1
adenosylmethionine decarboxylase 1
ISO
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87
ClinVar
PMID:25741868 PMID:32330417
NCBI chr 6:108,678,741...108,699,695
Ensembl chr 6:112,761,072...112,782,074
G
CDK19
cyclin dependent kinase 19
ISO
OMIM
NCBI chr 6:108,413,832...108,619,053
Ensembl chr 6:112,483,434...112,686,987
G
MDH1
malate dehydrogenase 1
ISO
OMIM
NCBI chr2A:63,658,933...63,677,257
Ensembl chr2A:64,785,132...64,803,631
G
JMJD1C
jumonji domain containing 1C
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar
PMID:22495311 PMID:26181491 PMID:28492532
NCBI chr10:59,674,227...60,028,763
Ensembl chr10:61,999,571...62,295,332
G
KCND2
potassium voltage-gated channel subfamily D member 2
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:24501278 PMID:28492532 PMID:29581270
NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21396429 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22550089 PMID:22612257 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24136861 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386
NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
G
SLC25A22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532
NCBI chr11:807,886...815,770
Ensembl chr11:851,998...858,121
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar
PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532
NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912
G
MVP
major vault protein
ISO
ClinVar Annotator: match by term: Infantile convulsions and paroxysmal choreoathetosis, familial
ClinVar
PMID:25741868
Ensembl chr16:30,190,090...30,219,070
G
PRRT2
proline rich transmembrane protein 2
ISO
OMIM
Ensembl chr16:30,183,352...30,187,862
G
PNKP
polynucleotide kinase 3'-phosphatase
ISO
OMIM
NCBI chr19:46,874,216...46,880,954
Ensembl chr19:55,790,048...55,796,762
G
PIGA
phosphatidylinositol glycan anchor biosynthesis class A
ISO
OMIM
NCBI chr X:7,946,158...7,962,320
Ensembl chr X:15,228,881...15,244,949
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all