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G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
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ISS |
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MouseDO |
|
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NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
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G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
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NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
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G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
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NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
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G |
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 |
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NCBI chr 4:74,700,539...77,025,463
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G |
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 |
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NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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G |
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 |
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NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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G |
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 |
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NCBI chr14:83,089,000...83,219,576
Ensembl chr14:83,089,000...83,219,464
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G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
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NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
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G |
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 |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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G |
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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G |
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 |
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NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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 |
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NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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G |
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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|
G |
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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G |
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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G |
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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G |
Rbfox3 |
RNA binding fox-1 homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
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NCBI chr10:107,517,916...107,850,764
Ensembl chr10:107,516,995...107,539,658
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G |
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 |
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NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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G |
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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G |
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 |
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NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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G |
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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G |
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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|
G |
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 |
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NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
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G |
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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G |
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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|
G |
Snip1 |
Smad nuclear interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
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NCBI chr15:19,275,273...19,282,753
Ensembl chr 5:143,063,099...143,070,884
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|
G |
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 |
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NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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|
G |
Strada |
STE20 related adaptor alpha |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:28492532 PMID:29358611 |
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NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
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NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
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|
G |
Tbc1d24 |
TBC1 domain family, member 24 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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|
G |
Wwox |
WW domain-containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
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NCBI chr19:46,761,353...47,695,247
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G |
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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G |
Cacna1agry |
calcium voltage-gated channel subunit alpha1 A; groggy mutant |
|
IAGP |
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RGD |
PMID:17196942 |
RGD:1598976 |
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G |
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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G |
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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G |
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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G |
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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G |
Efhc1 |
EF-hand domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
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NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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G |
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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G |
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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|
G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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|
G |
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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|
G |
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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|
G |
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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|
|
G |
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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G |
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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|
G |
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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 |
ClinVar |
PMID:25950944 |
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NCBI chr 1:234,252,757...234,442,597
Ensembl chr 1:234,252,757...234,435,839
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
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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 |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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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 |
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NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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G |
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 |
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NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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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 |
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NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Acquired epileptiform aphasia |
ClinVar |
PMID:28492532 |
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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 |
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ISS |
OMIM:606369 |
MouseDO |
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NCBI chr 9:94,980,328...95,071,531
Ensembl chr 9:94,980,409...95,069,714
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G |
Gabrg2 |
gamma-aminobutyric acid type A receptor subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
PMID:24407264 PMID:25741868 PMID:27066572 PMID:28492532 |
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NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
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Gatm |
glycine amidinotransferase |
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ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by synonym: MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY |
ClinVar |
PMID:16249883 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type |
ClinVar |
PMID:17347258 PMID:18804930 PMID:19589774 PMID:25348405 PMID:26633542 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
PMID:28492532 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant |
ClinVar |
PMID:28492532 |
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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 |
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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 |
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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 |
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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 |
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NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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