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
IAGP
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Absence seizures
ClinVar
PMID:25741868
NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
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SCN9A
sodium voltage-gated channel alpha subunit 9
IAGP
ClinVar Annotator: match by term: Absence seizures
ClinVar
PMID:25741868
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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AC005064.1
novel transcript, antisense to RELN and SLC26A5
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007
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ARFGEF1-DT
ARFGEF1 divergent transcript
IAGP
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 8:67,343,834...67,491,868
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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CHD2
chromodomain helicase DNA binding protein 2
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,900,189...93,027,996
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CNTNAP2
contactin associated protein 2
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201
NCBI chr 7:146,116,207...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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CPA6
carboxypeptidase A6
IAGP
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 8:67,422,038...67,747,114
Ensembl chr 8:67,422,038...67,746,378
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CSTB
cystatin B
IAGP
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 chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 Ensembl chr21:43,772,511...43,776,330 Ensembl chr21:43,772,511...43,776,330
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DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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EPM2A
EPM2A glucan phosphatase, laforin
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 6:145,382,540...145,736,023
Ensembl chr 6:145,382,535...145,736,023
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
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 chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 9:137,139,092...137,168,759
Ensembl chr 9:137,139,154...137,168,756
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
EXP IAGP
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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928 Ensembl chr16:9,753,404...10,182,928
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IER3IP1
immediate early response 3 interacting protein 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
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KCNQ2
potassium voltage-gated channel subfamily Q member 2
IAGP
ClinVar Annotator: match by term: Benign Rolandic epilepsy
ClinVar
PMID:18625963
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,210...63,472,677 Ensembl chr20:63,400,210...63,472,677
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
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KCNT1
potassium sodium-activated channel subfamily T member 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
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MAF
MAF bZIP transcription factor
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
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PCDH19
protocadherin 19
IAGP
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:100,291,644...100,410,273
Ensembl chr X:100,291,644...100,410,273
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PLCB1
phospholipase C beta 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
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PRICKLE1
prickle planar cell polarity protein 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr12:42,456,757...42,589,755
Ensembl chr12:42,456,757...42,590,355
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PRICKLE2
prickle planar cell polarity protein 2
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 3:64,092,236...64,445,476
Ensembl chr 3:64,092,236...64,445,476
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RBFOX1
RNA binding fox-1 homolog 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611
NCBI chr16:5,239,752...7,713,343
Ensembl chr16:5,239,802...7,713,340
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RBFOX3
RNA binding fox-1 homolog 3
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr17:79,089,345...79,665,600
Ensembl chr17:79,089,345...79,516,148
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RELN
reelin
IAGP
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 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658 Ensembl chr 7:103,471,784...103,989,658
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SCARB2
scavenger receptor class B member 2
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 4:76,158,737...76,213,824
Ensembl chr 4:76,158,737...76,234,536
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SCN1A
sodium voltage-gated channel alpha subunit 1
IAGP
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
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 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
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SCN1B
sodium voltage-gated channel beta subunit 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A
sodium voltage-gated channel alpha subunit 2
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 2:165,208,056...165,392,310
Ensembl chr 2:165,194,993...165,392,310
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SCN9A
sodium voltage-gated channel alpha subunit 9
IAGP
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 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SIK1B
salt inducible kinase 1B (putative)
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr21:6,111,131...6,123,778
Ensembl chr21:6,111,131...6,123,778
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SLC2A1
solute carrier family 2 member 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 Ensembl chr 1:42,925,353...42,958,893
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SLC6A1
solute carrier family 6 member 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
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SNIP1
Smad nuclear interacting protein 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
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SPTAN1
spectrin alpha, non-erythrocytic 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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STRADA
STE20 related adaptor alpha
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
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SZT2
SZT2 subunit of KICSTOR complex
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 1:43,389,884...43,454,247
Ensembl chr 1:43,389,882...43,454,247
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TBC1D24
TBC1 domain family member 24
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
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WWOX
WW domain containing oxidoreductase
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,430...79,212,667
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO EXP
DNA:mutation:cds:752T>A (p.M251K)(rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:17196942 , PMID:17196942
RGD:1598976
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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CACNA1H
calcium voltage-gated channel subunit alpha1 H
susceptibility
IAGP EXP
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: Epilepsy, childhood absence 6 ClinVar Annotator: match by term: CACNA1H-related disorder 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 chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,799...50,504,244 Ensembl chr 3:50,362,799...50,504,244
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CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2
ISO
mRNA,protein:increased expression:somatosensory cortex, primary motor cortex
RGD
PMID:18556211
RGD:13524553
NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,563,921...36,703,558 Ensembl chr22:36,563,921...36,703,558
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CACNG3
calcium voltage-gated channel auxiliary subunit gamma 3
IAGP
RGD
PMID:11904235
RGD:728397
NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,255,553...24,362,801 Ensembl chr16:24,255,553...24,362,801
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EFHC1
EF-hand domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
IAGP
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 chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
IAGP
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:28492532
NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
susceptibility
IAGP EXP
DNA:SNPs ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 CTD Direct Evidence: marker/mechanism
ClinVar OMIM 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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
DNA:snp:intron:IVS6+2T>G (human)
RGD
PMID:12117362
RGD:1358631
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GLUD1
glutamate dehydrogenase 1
ISO
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
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GRIK1
glutamate ionotropic receptor kainate type subunit 1
IAGP
RGD
PMID:9259378
RGD:1358334
NCBI chr21:29,536,933...29,939,996
Ensembl chr21:29,536,933...29,940,033
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HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
RGD
PMID:15182313
RGD:9686420
NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
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HTR7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:15050708
RGD:6480686
NCBI chr10:90,738,693...90,858,039
Ensembl chr10:90,740,823...90,858,039
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JRK
Jrk helix-turn-helix protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 8:142,651,501...142,669,983
Ensembl chr 8:142,657,460...142,681,968
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KCNK9
potassium two pore domain channel subfamily K member 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15781965
NCBI chr 8:139,600,838...139,703,135
Ensembl chr 8:139,600,838...139,704,109
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LGI4
leucine rich repeat LGI family member 4
IAGP
DNA:point mutation: :c.1914G>A (human)
RGD
PMID:14505228
RGD:1302591
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:20303372
RGD:8547934
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NPY
neuropeptide Y
treatment
IDA ISO
RGD
PMID:17331209 , PMID:24039965
RGD:10448963 , RGD:10448964
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NPY1R
neuropeptide Y receptor Y1
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr 4:163,323,962...163,344,832
Ensembl chr 4:163,323,962...163,344,832
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NPY2R
neuropeptide Y receptor Y2
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
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NPY5R
neuropeptide Y receptor Y5
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr 4:163,336,968...163,352,277
Ensembl chr 4:163,343,892...163,351,934
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SCN1B
sodium voltage-gated channel beta subunit 1
IAGP
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SLC2A1
solute carrier family 2 member 1
onset
IAGP
DNA:deletion, missense mutations, SNP:multiple
RGD
PMID:26537434
RGD:11058811
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 Ensembl chr 1:42,925,353...42,958,893
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YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
ISO
protein:increased expression:parietal lobe
RGD
PMID:21310218
RGD:9587483
NCBI chr 8:100,916,523...100,954,068
Ensembl chr 8:100,916,523...100,953,388
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AL355674.1
novel transcript
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 9:74,371,531...74,383,530
Ensembl chr 9:74,371,335...74,384,578
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ATP10A
ATPase phospholipid transporting 10A (putative)
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr15:25,672,241...25,865,144
Ensembl chr15:25,677,271...25,865,184 Ensembl chr15:25,677,271...25,865,184
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GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
IAGP
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 chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
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MIR6130
microRNA 6130
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr21:23,079,284...23,079,392
Ensembl chr21:23,079,284...23,079,392
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RORB
RAR related orphan receptor B
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
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RORB-AS1
RORB antisense RNA 1
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 9:74,473,435...74,498,553
Ensembl chr 9:74,485,551...74,499,127
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar Annotator: match by term: GABRG2-Related Disorder
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 chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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BCHE
butyrylcholinesterase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15121994
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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BDNF
brain derived neurotrophic factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
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CYP2D6
cytochrome P450 family 2 subfamily D member 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835697
NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,881 Ensembl chr22:42,126,499...42,130,881
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FGF2
fibroblast growth factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
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HBEGF
heparin binding EGF like growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection
RGD
PMID:23603404
RGD:8662897
NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
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LGI1
leucine rich glioma inactivated 1
ISO
RGD
PMID:30813600
RGD:14995940
NCBI chr10:93,757,887...93,798,159
Ensembl chr10:93,757,840...93,806,272
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LIG1
DNA ligase 1
ISO
RGD
PMID:30813600
RGD:14995940
NCBI chr19:48,115,445...48,170,595
Ensembl chr19:48,115,445...48,170,603
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MBD5
methyl-CpG binding domain protein 5
IAGP
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:148,021,011...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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NES
nestin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16137769
NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407
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NGF
nerve growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 1:115,285,915...115,338,253
Ensembl chr 1:115,285,917...115,338,256 Ensembl chr 1:115,285,917...115,338,256 Ensembl chr 1:115,285,917...115,338,256 Ensembl chr 1:115,285,917...115,338,256
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NTF3
neurotrophin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr12:5,432,108...5,495,299
Ensembl chr12:5,432,108...5,521,536
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OXT
oxytocin/neurophysin I prepropeptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:4988877 PMID:6407273
NCBI chr20:3,068,871...3,072,517
Ensembl chr20:3,071,620...3,072,517
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PCDH19
protocadherin 19
IAGP
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
NCBI chr X:100,291,644...100,410,273
Ensembl chr X:100,291,644...100,410,273
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POMC
proopiomelanocortin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:4371370
NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
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SCN1A
sodium voltage-gated channel alpha subunit 1
IAGP
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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SCN8A
sodium voltage-gated channel alpha subunit 8
IAGP
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
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SLC25A24
solute carrier family 25 member 24
IAGP
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SPTAN1
spectrin alpha, non-erythrocytic 1
IAGP
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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SAMD12
sterile alpha motif domain containing 12
IAGP
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
OMIM ClinVar
PMID:29507423 PMID:29939203
NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112
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ADRA2B
adrenoceptor alpha 2B
IAGP
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2
ClinVar
PMID:25741868
NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
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STARD7
StAR related lipid transfer domain containing 7
IAGP
OMIM
NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,825 Ensembl chr 2:96,184,859...96,208,825
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MARCHF6
membrane associated ring-CH-type finger 6
IAGP
OMIM
NCBI chr 5:10,353,693...10,440,388
Ensembl chr 5:10,353,695...10,440,388
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YEATS2
YEATS domain containing 2
IAGP
OMIM
NCBI chr 3:183,697,797...183,812,625
Ensembl chr 3:183,697,797...183,812,624
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CNTN2
contactin 2
IAGP
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532
NCBI chr 1:205,042,937...205,078,289
Ensembl chr 1:205,042,937...205,078,289
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TNRC6A
trinucleotide repeat containing adaptor 6A
IAGP
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6
ClinVar OMIM
PMID:29507423
NCBI chr16:24,610,205...24,826,223
Ensembl chr16:24,610,209...24,827,632
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RAPGEF2
Rap guanine nucleotide exchange factor 2
IAGP
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 4:159,104,051...159,360,169
Ensembl chr 4:159,103,013...159,360,174
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CLCN2
chloride voltage-gated channel 2
susceptibility
IAGP
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 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 chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
susceptibility
IAGP
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
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 chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
IAGP
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr15:32,030,462...32,173,018
Ensembl chr15:31,923,438...32,173,018
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EFHC1
EF-hand domain containing 1
susceptibility
IAGP
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 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
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BRD2
bromodomain containing 2
IAGP
DNA:SNPs:promoter (human)
RGD
PMID:12830434
RGD:1358444
NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
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CACNA1G
calcium voltage-gated channel subunit alpha1 G
IAGP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr17:50,560,715...50,629,625
Ensembl chr17:50,560,715...50,627,474
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CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
IAGP EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,768...152,099,475 Ensembl chr 2:151,832,768...152,099,475 Ensembl chr 2:151,832,768...152,099,475
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CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
IAGP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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EFHC1
EF-hand domain containing 1
susceptibility
IAGP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 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 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
IAGP EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
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JRK
Jrk helix-turn-helix protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 8:142,651,501...142,669,983
Ensembl chr 8:142,657,460...142,681,968
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CILK1
ciliogenesis associated kinase 1
susceptibility
IAGP
OMIM
NCBI chr 6:53,001,299...53,061,824
Ensembl chr 6:53,001,279...53,061,824 Ensembl chr 6:53,001,279...53,061,824
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IAGP EXP
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY ClinVar Annotator: match by term: Acquired epileptiform aphasia CTD Direct Evidence: marker/mechanism
ClinVar CTD
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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928 Ensembl chr16:9,753,404...10,182,928
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SPTAN1
spectrin alpha, non-erythrocytic 1
IAGP
ClinVar Annotator: match by term: Acquired epileptiform aphasia
ClinVar
PMID:28492532
NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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DGKD
diacylglycerol kinase delta
ISS
OMIM:606369
MouseDO
NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104 Ensembl chr 2:233,354,494...233,472,104
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:24407264 PMID:25741868 PMID:27066572 PMID:28492532
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GATM
glycine amidinotransferase
IAGP
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
IAGP
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 8:132,120,858...132,481,095
Ensembl chr 8:132,120,859...132,481,095
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MAPK10
mitogen-activated protein kinase 10
IAGP
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type
ClinVar
PMID:16249883
NCBI chr 4:86,010,405...86,594,625
Ensembl chr 4:85,990,007...86,594,625
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POLG
DNA polymerase gamma, catalytic subunit
IAGP
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 chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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SCN1A
sodium voltage-gated channel alpha subunit 1
IAGP
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 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SCN1A-AS1
SCN1A and SCN9A antisense RNA 1
IAGP
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 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
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ZEB2
zinc finger E-box binding homeobox 2
IAGP
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:28492532
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IAGP
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 chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928 Ensembl chr16:9,753,404...10,182,928
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SPTAN1
spectrin alpha, non-erythrocytic 1
IAGP
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 9:128,552,564...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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SRPX2
sushi repeat containing protein X-linked 2
IAGP
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 OMIM
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:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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TBC1D24
TBC1 domain family member 24
IAGP
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 chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
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