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: absence epilepsy
Accession: DOID:0070309
browse the term
Definition: An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)
Synonyms: exact_synonym: Absence Seizure Disorder; Absence Seizure Disorders; absence epilepsies; absence seizure; absence seizures
For additional species annotation, visit the
Alliance of Genome Resources .
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Absence seizures
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Absence seizures
ClinVar
PMID:25741868
NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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Chd2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
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Cntnap2
contactin associated protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201
NCBI chr 4:74,700,539...77,025,463
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Cpa6
carboxypeptidase A6
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362
NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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Cstb
cystatin B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:8596935 PMID:9054946 PMID:15329070 PMID:15483648 PMID:16155205 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:29358611
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611
NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
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Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Grin1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:2,507,745...2,534,664
Ensembl chr 3:2,506,896...2,534,663
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rolandic epilepsy
CTD ClinVar
PMID:7574460 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 PMID:29358611
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Ier3ip1
immediate early response 3 interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 4:132,140,802...132,152,059
Ensembl chr 4:132,140,802...132,151,740
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Benign Rolandic epilepsy
ClinVar
PMID:18625963
NCBI chr 3:176,585,897...176,645,029
Ensembl chr 3:176,589,906...176,644,951
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Kcnq3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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Kcnt1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 3:3,310,641...3,366,558
Ensembl chr 3:3,310,954...3,365,340
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545
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Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Prickle2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
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Rbfox1
RNA binding fox-1 homolog 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611
NCBI chr10:8,312,961...10,437,778
Ensembl chr10:8,312,961...8,654,892
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Rbfox3
RNA binding fox-1 homolog 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
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Reln
reelin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611
NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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Scarb2
scavenger receptor class B, member 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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Scn2a
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 3:51,687,910...51,822,008
Ensembl chr 3:51,687,809...51,822,250
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Scn9a
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Slc6a1
solute carrier family 6 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
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Snip1
Smad nuclear interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Strada
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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Szt2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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Wwox
WW domain-containing oxidoreductase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr19:46,761,353...47,695,247
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
IAGP ISO
DNA:mutation:cds:752T>A (p.M251K)(rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:17196942 , PMID:17196942
RGD:1598976
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Cacna1agry
calcium voltage-gated channel subunit alpha1 A; groggy mutant
IAGP
RGD
PMID:17196942
RGD:1598976
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: Epilepsy, childhood absence 6 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532 , PMID:12891677
RGD:1358447
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 8:116,154,661...116,285,643
Ensembl chr 8:116,154,736...116,284,985
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Cacng2
calcium voltage-gated channel auxiliary subunit gamma 2
IEP
mRNA,protein:increased expression:somatosensory cortex, primary motor cortex
RGD
PMID:18556211
RGD:13524553
NCBI chr 7:119,228,112...119,353,332
Ensembl chr 7:119,228,102...119,352,605
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Cacng3
calcium voltage-gated channel auxiliary subunit gamma 3
ISO
RGD
PMID:11904235
RGD:728397
NCBI chr 1:192,613,766...192,708,371
Ensembl chr 1:192,613,372...192,709,078
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Efhc1
EF-hand domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
ClinVar
PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Gabra6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:28492532
NCBI chr10:27,847,447...27,862,896
Ensembl chr10:27,847,439...27,862,868
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
susceptibility
ISO
DNA:SNPs ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612269
OMIM ClinVar CTD
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532 , PMID:16835263
RGD:1601269
NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
DNA:snp:intron:IVS6+2T>G (human)
RGD
PMID:12117362
RGD:1358631
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Glud1
glutamate dehydrogenase 1
IEP
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
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Grik1
glutamate ionotropic receptor kainate type subunit 1
ISO
RGD
PMID:9259378
RGD:1358334
NCBI chr11:27,811,954...28,213,940
Ensembl chr11:27,811,957...27,971,359
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
RGD
PMID:15182313
RGD:9686420
NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
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Htr7
5-hydroxytryptamine receptor 7
IMP
RGD
PMID:15050708
RGD:6480686
NCBI chr 1:254,547,964...254,671,811
Ensembl chr 1:254,547,620...254,671,778
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Jrk
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
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Kcnk9
potassium two pore domain channel subfamily K member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15781965
NCBI chr 7:113,894,918...113,938,397
Ensembl chr 7:113,903,557...113,937,941
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Lgi4
leucine-rich repeat LGI family, member 4
ISO
DNA:point mutation: :c.1914G>A (human)
RGD
PMID:14505228
RGD:1302591
NCBI chr 1:89,491,588...89,502,939
Ensembl chr 1:89,491,654...89,502,974
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:20303372
RGD:8547934
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Npy
neuropeptide Y
treatment
ISO IDA
RGD
PMID:17331209 , PMID:24039965
RGD:10448963 , RGD:10448964
NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097 Ensembl chr 4:79,557,854...79,565,097
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Npy1r
neuropeptide Y receptor Y1
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:24,779,480...24,789,131
Ensembl chr16:24,779,477...24,788,740
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Npy2r
neuropeptide Y receptor Y2
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr 2:181,528,949...181,538,145
Ensembl chr 2:181,530,832...181,531,978
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Npy5r
neuropeptide Y receptor Y5
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:24,796,685...24,805,730
Ensembl chr16:24,797,124...24,805,079
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Scn1b
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:89,550,738...89,560,469
Ensembl chr 1:89,550,738...89,560,719
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Slc2a1
solute carrier family 2 member 1
onset
ISO
DNA:deletion, missense mutations, SNP:multiple
RGD
PMID:26537434
RGD:11058811
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
IEP
protein:increased expression:parietal lobe
RGD
PMID:21310218
RGD:9587483
NCBI chr 7:75,573,553...75,598,295
Ensembl chr 7:75,574,967...75,597,276
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Atp10a
ATPase phospholipid transporting 10A (putative)
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 1:115,973,343...116,141,892
Ensembl chr 1:115,975,324...116,141,892
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Gabra5
gamma-aminobutyric acid type A receptor subunit alpha 5
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 1:112,833,941...112,947,482
Ensembl chr 1:112,833,944...112,947,451
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar
PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870
NCBI chr 1:113,034,251...113,265,364
Ensembl chr 1:112,976,770...113,265,364
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Rorb
RAR-related orphan receptor B
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 2
ClinVar
PMID:9536098 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15121994
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf
brain-derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835697
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection
RGD
PMID:23603404
RGD:8662897
NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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Lgi1
leucine-rich, glioma inactivated 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
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Lgi1m1Kyo
leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo
IMP
RGD
PMID:30813600
RGD:14995940
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Lig1
DNA ligase 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
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Mbd5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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Nes
nestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16137769
NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ntf3
neurotrophin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4988877 PMID:6407273
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4371370
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: tonic-clonic convulsions
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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Slc25a24
solute carrier family 25 member 24
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Samd12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
OMIM ClinVar
PMID:29507423 PMID:29939203
NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
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Adra2b
adrenoceptor alpha 2B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2
ClinVar
PMID:25741868
NCBI chr 3:119,805,941...119,809,987
Ensembl chr 3:119,805,941...119,809,987
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Stard7
StAR-related lipid transfer domain containing 7
ISO
OMIM
NCBI chr 3:119,698,655...119,727,303
Ensembl chr 3:119,698,652...119,727,347
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Marchf6
membrane associated ring-CH-type finger 6
ISO
OMIM
NCBI chr 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712
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Yeats2
YEATS domain containing 2
ISO
OMIM
NCBI chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542
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Cntn2
contactin 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar Annotator: match by OMIM:615400
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532
NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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Tnrc6a
trinucleotide repeat containing adaptor 6A
ISO
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6
ClinVar OMIM
PMID:29507423
NCBI chr 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394
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Rapgef2
Rap guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
ClinVar OMIM
PMID:25741868 PMID:29507423
NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157
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Clcn2
chloride voltage-gated channel 2
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1
OMIM ClinVar
PMID:17159113 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31875159
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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Brd2
bromodomain containing 2
ISO
DNA:SNPs:promoter (human)
RGD
PMID:12830434
RGD:1358444
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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Cacnb4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by OMIM:254770 ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar OMIM
PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 PMID:29750216 PMID:31875159
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Jrk
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
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Cilk1
ciliogenesis associated kinase 1
susceptibility
ISO
OMIM
NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acquired epileptiform aphasia ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY
CTD ClinVar
PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Acquired epileptiform aphasia
ClinVar
PMID:28492532
NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Dgkd
diacylglycerol kinase, delta
ISS
OMIM:606369
MouseDO
NCBI chr 9:94,980,328...95,071,531
Ensembl chr 9:94,980,409...95,069,714
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:24407264 PMID:25741868 PMID:27066572 PMID:28492532
NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
NCBI chr 3:114,711,570...114,728,155
Ensembl chr 3:114,711,562...114,728,410
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Kcnq3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
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 7:106,714,479...107,009,639
Ensembl chr 7:106,717,229...107,009,330
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Mapk10
mitogen activated protein kinase 10
ISO
ClinVar Annotator: match by synonym: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
ClinVar
PMID:16249883
NCBI chr14:8,079,955...8,371,508
Ensembl chr14:8,080,275...8,368,254
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Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 PMID:21880868 PMID:22647225 PMID:23426270 PMID:23811324 PMID:24122062 PMID:24259288 PMID:24331360 PMID:24508722 PMID:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:30255931 PMID:30373890 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506
NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type
ClinVar
PMID:17347258 PMID:18804930 PMID:19589774 PMID:25348405 PMID:26633542 PMID:28492532
NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,857,289...29,985,932
Ensembl chr 3:29,862,473...29,996,865
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
ClinVar
PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611
NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Srpx2
sushi-repeat-containing protein, X-linked 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked ClinVar Annotator: match by term: X-linked rolandic epilepsy with mental retardation and speech dyspraxia ClinVar Annotator: match by OMIM:300643
OMIM ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr X:104,734,035...104,760,658
Ensembl chr X:104,734,082...104,760,547
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM ClinVar
PMID:10072049 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 PMID:31257402
NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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