PMID: 28488083

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience bulletin
F Wei, LM Yan, T Su, N He, ZJ Lin, J Wang, YW Shi, YH Yi, WP Liao
2017-08

331 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-26812796-A-T GABRB3 c.767T>A p.Leu256Gln Missense 7/9 -
2-166012385-T-G SCN3A c.1060A>C p.Lys354Gln Missense 10/28 -
20-62065204-G-T KCNQ2 c.1076C>A p.Thr359Lys Missense 8/8 -
8-27320834-G-A CHRNA2 c.1126C>T p.Arg376Trp Missense 6/7 -
1-1959699-G-A GABRD c.659G>A p.Arg220His Missense 6/9 -
19-35524449-G-A SCN1B c.254G>A p.Arg85His Missense 3/6 -
9-138675924-G-A KCNT1 c.2896G>A p.Ala966Thr Missense 25/31 -
2-166231210-C-T SCN2A c.3988C>T p.Leu1330Phe Missense 22/27 -
14-63417240-C-T KCNH5 c.980G>A p.Arg327His Missense 7/11 -
16-9943635-A-G GRIN2A c.1306T>C p.Cys436Arg Missense 6/14 -
16-10031822-A-T GRIN2A c.1001T>A p.Leu334* Nonsense 4/14 -
19-610364-G-A HCN2 c.1543G>A p.Glu515Lys Missense 5/8 -
8-133187738-C-T KCNQ3 c.895G>A p.Glu299Lys Missense 5/15 -
4-47405630-T-C GABRB1 c.737T>C p.Phe246Ser Missense 7/9 -
8-133141666-T-C KCNQ3 c.2462A>G p.Asn821Ser Missense 15/15 -
20-62070004-G-A KCNQ2 c.997C>T p.Arg333Trp Missense 7/8 -
20-62076062-G-A KCNQ2 c.640C>T p.Arg214Trp Missense 4/8 -
5-161576158-C-T GABRG2 c.967C>T p.Arg323Trp Missense 8/9 -
7-120373051-G-A KCND2 c.1210G>A p.Val404Met Missense 2/6 -
5-45462069-C-G HCN1 c.890G>C p.Arg297Thr Missense 3/8 -
7-150649785-C-G KCNH2 c.1285G>C p.Ala429Pro Missense 6/15 -
1-154541978-T-A CHRNB2 c.105T>A p.His35Gln Missense 2/6 -
15-26828484-T-C GABRB3 c.539A>G p.Glu180Gly Missense 5/9 -
19-590322-C-T HCN2 c.377C>T p.Ser126Leu Missense 1/8 -
8-27321124-A-T CHRNA2 c.836T>A p.Ile279Asn Missense 6/7 -
20-62076115-G-A KCNQ2 c.587C>T p.Ala196Val Missense 4/8 -
16-9916208-A-G GRIN2A c.2081T>C p.Ile694Thr Missense 11/14 -
9-140058120-G-A GRIN1 c.2443G>A p.Gly815Arg Missense 17/20 -
9-138671272-C-G KCNT1 c.2797C>G p.Arg933Gly Missense 24/31 -
19-35524568-C-T SCN1B c.373C>T p.Arg125Cys Missense 3/6 -
20-62065229-G-C KCNQ2 c.1051C>G p.Leu351Val Missense 8/8 -
20-62065229-G-A KCNQ2 c.1051C>T p.Leu351Phe Missense 8/8 -
1-154544158-G-A CHRNB2 c.859G>A p.Val287Met Missense 5/6 -
1-154544158-G-C CHRNB2 c.859G>C p.Val287Leu Missense 5/6 -
1-154544158-G-T CHRNB2 c.859G>T p.Val287Leu Missense 5/6 -
19-13368235-C-A CACNA1A c.4531G>T p.Ala1511Ser Missense 28/48 -
9-138669220-T-C KCNT1 c.2386T>C p.Tyr796His Missense 21/31 -
19-13414398-C-T CACNA1A c.2137G>A p.Ala713Thr Missense 17/48 -
16-1262129-AG-CC CACNA1H c.4750_4751delAGinsCC p.Arg1584Pro Missense 25/34 -
16-10031954-G-A GRIN2A c.869C>T p.Ala290Val Missense 4/14 -
9-138650269-C-G KCNT1 c.769C>G p.His257Asp Missense 10/31 -
20-47991181-G-A KCNB1 c.916C>T p.Arg306Cys Missense 2/2 -
20-62070997-G-A KCNQ2 c.881C>T p.Ala294Val Missense 6/8 -
20-62070997-G-C KCNQ2 c.881C>G p.Ala294Gly Missense 6/8 -
16-9934638-A-G GRIN2A c.1517T>C p.Val506Ala Missense 8/14 -
15-26806246-C-T GABRB3 c.913G>A p.Ala305Thr Missense 8/9 -
16-1259176-G-A CACNA1H c.3508G>A p.Glu1170Lys Missense 17/34 -
5-161520973-C-T GABRG2 c.247C>T p.Pro83Ser Missense 2/9 -
1-111146536-A-C KCNA2 c.869T>G p.Leu290Arg Missense 3/3 -
20-47991162-C-T KCNB1 c.935G>A p.Arg312His Missense 2/2 -
16-9943820-T-C GRIN2A c.1123-2A>G - IntronicSNV - 5/13
16-9892176-T-C GRIN2A c.2314A>G p.Lys772Glu Missense 12/14 -
5-45645301-G-A HCN1 c.835C>T p.His279Tyr Missense 2/8 -
16-1251888-G-A CACNA1H c.1438G>A p.Ala480Thr Missense 9/34 -
16-10032095-G-A GRIN2A c.728C>T p.Ala243Val Missense 4/14 -
19-48922979-G-A GRIN2D c.1999G>A p.Val667Ile Missense 9/13 -
7-150645949-G-A KCNH2 c.2587C>T p.Arg863* Nonsense 10/15 -
16-1268456-AGG-CAT CACNA1H c.5674_5676delAGGinsCAT p.Arg1892His Missense 32/34 -
19-35524569-G-T SCN1B c.374G>T p.Arg125Leu Missense 3/6 -
20-62076101-G-A KCNQ2 c.601C>T p.Arg201Cys Missense 4/8 -
1-147380563-T-C GJA8 c.481T>C p.Phe161Leu Missense 2/2 -
1-111146511-C-A KCNA2 c.894G>T p.Leu298Phe Missense 3/3 -
19-610401-G-A HCN2 c.1580G>A p.Arg527Gln Missense 5/8 -
19-35530571-A-T SCN1B c.623A>T p.Lys208Ile Missense 5/6 -
9-138675877-G-A KCNT1 c.2849G>A p.Arg950Gln Missense 25/31 -
9-140058246-G-A GRIN1 c.2479G>A p.Gly827Arg Missense 18/20 -
5-161576218-T-C GABRG2 c.1027T>C p.Phe343Leu Missense 8/9 -
12-52162699-C-G SCN8A c.2952C>G p.Asn984Lys Missense 17/27 -
16-1254271-G-A CACNA1H c.2264G>A p.Gly755Asp Missense 10/34 -
1-147380947-A-C GJA8 c.865A>C p.Thr289Pro Missense 2/2 -
1-147380947-A-G GJA8 c.865A>G p.Thr289Ala Missense 2/2 -
20-62076083-G-A KCNQ2 c.619C>T p.Arg207Trp Missense 4/8 -
8-133182674-G-A KCNQ3 c.1142C>T p.Ala381Val Missense 8/15 -
8-133186511-C-A KCNQ3 c.1019G>T p.Gly340Val Missense 6/15 -
2-167142979-C-T SCN9A c.1469G>A p.Ser490Asn Missense 11/27 -
20-62076089-T-C KCNQ2 c.613A>G p.Ile205Val Missense 4/8 -
8-133186542-G-A KCNQ3 c.988C>T p.Arg330Cys Missense 6/15 -
16-1252393-C-T CACNA1H c.1943C>T p.Pro648Leu Missense 9/34 -
20-62076067-T-C KCNQ2 c.635A>G p.Asp212Gly Missense 4/8 -
2-167138208-T-C SCN9A c.2052A>G p.Ile684Met Missense 13/27 -
20-62065250-A-T KCNQ2 c.1030T>A p.Trp344Arg Missense 8/8 -
20-62065250-A-G KCNQ2 c.1030T>C p.Trp344Arg Missense 8/8 -
15-26825603-T-A GABRB3 c.545A>T p.Tyr182Phe Missense 6/9 -
12-52200885-G-T SCN8A c.5615G>T p.Arg1872Leu Missense 27/27 -
3-184075476-C-T CLCN2 c.704G>A p.Arg235Gln Missense 7/24 -
20-62076100-C-T KCNQ2 c.602G>A p.Arg201His Missense 4/8 -
16-1251924-C-T CACNA1H c.1474C>T p.Pro492Ser Missense 9/34 -
8-133192493-G-A KCNQ3 c.688C>T p.Arg230Cys Missense 4/15 -
12-13768544-ACA-AAG GRIN2B c.1381_1383delTGTinsAAG p.Cys461Lys Missense 6/13 -
5-161520844-C-T GABRG2 c.118C>T p.Gln40* Nonsense 2/9 -
2-166166889-A-G SCN2A c.754A>G p.Met252Val Missense 7/27 -
2-167163041-G-T SCN9A c.446C>A p.Pro149Gln Missense 4/27 -
19-35524511-A-T SCN1B c.316A>T p.Ile106Phe Missense 3/6 -
9-138657034-G-A KCNT1 c.1193G>A p.Arg398Gln Missense 12/31 -
9-138650308-C-G KCNT1 c.808C>G p.Gln270Glu Missense 10/31 -
20-62070962-C-T KCNQ2 c.916G>A p.Ala306Thr Missense 6/8 -
5-161576279-G-A GABRG2 c.1088G>A p.Arg363Gln Missense 8/9 -
9-140057101-G-A GRIN1 c.1923G>A p.Met641Ile Missense 14/20 -
16-1251816-T-A CACNA1H c.1366T>A p.Cys456Ser Missense 9/34 -
3-50402595-A-G CACNA2D2 c.3119T>C p.Leu1040Pro Missense 36/38 -
19-13566019-C-G CACNA1A c.301G>C p.Glu101Gln Missense 2/48 -
1-1959698-C-T GABRD c.658C>T p.Arg220Cys Missense 6/9 -
12-52200572-A-G SCN8A c.5302A>G p.Asn1768Asp Missense 27/27 -
15-26812818-G-T GABRB3 c.745C>A p.Gln249Lys Missense 7/9 -
20-62065195-T-C KCNQ2 c.1085A>G p.Tyr362Cys Missense 8/8 -
16-1254357-G-A CACNA1H c.2350G>A p.Gly784Ser Missense 10/34 -
20-62076674-C-T KCNQ2 c.431G>A p.Arg144Gln Missense 3/8 -
20-62071027-T-C KCNQ2 c.851A>G p.Tyr284Cys Missense 6/8 -
2-167141016-T-A SCN9A c.1921A>T p.Asn641Tyr Missense 12/27 -
2-166165261-C-T SCN2A c.562C>T p.Arg188Trp Missense 5/27 -
20-47990849-G-C KCNB1 c.1248C>G p.Phe416Leu Missense 2/2 -
9-138657552-G-A KCNT1 c.1283G>A p.Arg428Gln Missense 13/31 -
15-26828514-A-C GABRB3 c.509T>G p.Leu170Arg Missense 5/9 -
16-10274179-A-AA GRIN2A c.90dupT p.Pro31Serfs*107 Frameshift 3/14 -
7-150649592-T-A KCNH2 c.1478A>T p.Tyr493Phe Missense 6/15 -
9-140058211-G-T GRIN1 c.2444G>T p.Gly815Val Missense 18/20 -
20-61981912-G-A CHRNA4 c.851C>T p.Ser284Leu Missense 5/6 -
16-9916149-C-T GRIN2A c.2140G>A p.Glu714Lys Missense 11/14 -
20-47990962-C-T KCNB1 c.1135G>A p.Gly379Arg Missense 2/2 -
5-161528238-T-G GABRG2 c.549-3T>G - IntronicSNV - 4/8
16-9858604-C-T GRIN2A c.2797G>A p.Asp933Asn Missense 14/14 -
19-35524558-C-G SCN1B c.363C>G p.Cys121Trp Missense 3/6 -
20-47990851-A-G KCNB1 c.1246T>C p.Phe416Leu Missense 2/2 -
19-35523474-C-T SCN1B c.83C>T p.Thr28Ile Missense 2/6 -
X-10182056-G-C CLCN4 c.1630G>C p.Val544Leu Missense 9/11 -
X-10182056-G-A CLCN4 c.1630G>A p.Val544Ile Missense 9/11 -
1-154541978-T-G CHRNB2 c.105T>G p.His35Gln Missense 2/6 -
9-140057128-C-G GRIN1 c.1950C>G p.Asn650Lys Missense 14/20 -
5-161569311-G-A GABRG2 c.911G>A p.Arg304Lys Missense 7/9 -
2-166243391-C-G SCN2A c.4687C>G p.Leu1563Val Missense 26/27 -
12-13761694-AC-CA GRIN2B c.1852_1853delGTinsCA p.Val618Gln Missense 9/13 -
3-184076853-C-G CLCN2 c.130G>C p.Gly44Arg Missense 2/24 -
1-154544235-C-G CHRNB2 c.936C>G p.Ile312Met Missense 5/6 -
3-184076853-C-T CLCN2 c.130G>A p.Gly44Arg Missense 2/24 -
X-10182090-C-T CLCN4 c.1664C>T p.Ala555Val Missense 9/11 -
20-62070034-G-A KCNQ2 c.967C>T p.Gln323* Nonsense 7/8 -
20-62070003-C-T KCNQ2 c.998G>A p.Arg333Gln Missense 7/8 -
5-161520971-G-A GABRG2 c.245G>A p.Arg82Gln Missense 2/9 -
20-62076064-C-T KCNQ2 c.638G>A p.Arg213Gln Missense 4/8 -
8-133146616-G-T KCNQ3 c.1720C>A p.Pro574Thr Missense 13/15 -
1-147380565-T-A GJA8 c.483T>A p.Phe161Leu Missense 2/2 -
1-147380565-T-G GJA8 c.483T>G p.Phe161Leu Missense 2/2 -
16-1254238-G-A CACNA1H c.2231G>A p.Arg744Gln Missense 10/34 -
20-62073763-C-A KCNQ2 c.812G>T p.Gly271Val Missense 5/8 -
12-13768083-C-T GRIN2B c.1619G>A p.Arg540His Missense 7/13 -
12-13828696-C-T GRIN2B c.1108G>A p.Glu370Lys Missense 4/13 -
16-1260082-G-T CACNA1H c.3792G>T p.Gln1264His Missense 18/34 -
8-133184894-C-T KCNQ3 c.1091G>A p.Arg364His Missense 7/15 -
7-150671861-A-G KCNH2 c.245T>C p.Ile82Thr Missense 2/15 -
8-133146616-G-A KCNQ3 c.1720C>T p.Pro574Ser Missense 13/15 -
15-26866564-C-T GABRB3 c.358G>A p.Asp120Asn Missense 4/9 -
16-9928084-G-C GRIN2A c.1655C>G p.Pro552Arg Missense 9/14 -
20-62070967-GAAG-G KCNQ2 c.913_915delTTC p.Phe305delPhe InFrameDeletion 6/8 -
5-161576159-G-A GABRG2 c.968G>A p.Arg323Gln Missense 8/9 -
5-161524722-C-T GABRG2 c.406C>T p.Arg136* Nonsense 4/9 -
1-1959075-A-C GABRD c.530A>C p.Glu177Ala Missense 5/9 -
5-161576174-A-T GABRG2 c.983A>T p.Lys328Met Missense 8/9 -
9-138657518-C-A KCNT1 c.1249C>A p.Arg417Ser Missense 13/31 -
2-167137081-C-T SCN9A c.2096G>A p.Cys699Tyr Missense 14/27 -
19-48908448-G-A GRIN2D c.923G>A p.Arg308His Missense 3/13 -
9-138657494-C-T KCNT1 c.1225C>T p.Pro409Ser Missense 13/31 -
3-184076576-G-C CLCN2 c.246C>G p.Phe82Leu Missense 3/24 -
9-138671275-G-A KCNT1 c.2800G>A p.Ala934Thr Missense 24/31 -
2-166166923-C-T SCN2A c.788C>T p.Ala263Val Missense 7/27 -
9-138660694-G-A KCNT1 c.1421G>A p.Arg474His Missense 15/31 -
12-13724908-AGA-A GRIN2B c.2011-5_2011-4delTC - IntronicDeletion - 9/12
16-9934843-C-T GRIN2A c.1447G>A p.Gly483Arg Missense 7/14 -
16-9916143-C-T GRIN2A c.2146G>A p.Ala716Thr Missense 11/14 -
9-138661828-A-G KCNT1 c.1546A>G p.Met516Val Missense 16/31 -
5-161528287-A-G GABRG2 c.595A>G p.Met199Val Missense 5/9 -
1-111146515-C-T KCNA2 c.890G>A p.Arg297Gln Missense 3/3 -
16-1250296-G-A CACNA1H c.844G>A p.Glu282Lys Missense 7/34 -
16-10031815-C-A GRIN2A c.1007+1G>T - IntronicSNV - 4/13
16-1251817-G-C CACNA1H c.1367G>C p.Cys456Ser Missense 9/34 -
5-45645322-A-G HCN1 c.814T>C p.Ser272Pro Missense 2/8 -
8-133153438-T-C KCNQ3 c.1403A>G p.Asn468Ser Missense 10/15 -
9-138662818-A-G KCNT1 c.1885A>G p.Lys629Glu Missense 18/31 -
16-9862862-A-G GRIN2A c.2441T>C p.Ile814Thr Missense 13/14 -
5-160758108-T-G GABRB2 c.859A>C p.Thr287Pro Missense 9/10 -
16-10031815-C-T GRIN2A c.1007+1G>A - IntronicSNV - 4/13
16-9892299-C-T GRIN2A c.2191G>A p.Asp731Asn Missense 12/14 -
5-161531034-T-G GABRG2 c.769+2T>G - IntronicSNV - 6/8
16-9862869-G-T GRIN2A c.2434C>A p.Leu812Met Missense 13/14 -
8-27321071-T-A CHRNA2 c.889A>T p.Ile297Phe Missense 6/7 -
16-9934645-G-A GRIN2A c.1510C>T p.Arg504Trp Missense 8/14 -
20-61981940-T-A CHRNA4 c.823A>T p.Ile275Phe Missense 5/6 -
9-140058297-C-T GRIN1 c.2530C>T p.Arg844Cys Missense 18/20 -
20-47990956-C-G KCNB1 c.1141G>C p.Gly381Arg Missense 2/2 -
9-138671257-C-T KCNT1 c.2782C>T p.Arg928Cys Missense 24/31 -
16-9892290-C-G GRIN2A c.2200G>C p.Val734Leu Missense 12/14 -
16-9892311-C-T GRIN2A c.2179G>A p.Ala727Thr Missense 12/14 -
2-167168083-T-C SCN9A c.184A>G p.Ile62Val Missense 2/27 -
16-9923280-C-A GRIN2A c.2007G>T p.Lys669Asn Missense 10/14 -
20-62073782-C-G KCNQ2 c.793G>C p.Ala265Pro Missense 5/8 -
20-47990956-C-T KCNB1 c.1141G>A p.Gly381Arg Missense 2/2 -
20-62073807-CCCCCTTCTC-C KCNQ2 c.765_773delGGGGGAGAA p.Lys255_glu257del InFrameDeletion 5/8 -
5-161580256-G-A GABRG2 c.1286G>A p.Trp429* Nonsense 9/9 -
2-166166916-G-A SCN2A c.781G>A p.Val261Met Missense 7/27 -
16-1250392-C-T CACNA1H c.940C>T p.Pro314Ser Missense 7/34 -
20-62073802-T-C KCNQ2 c.773A>G p.Asn258Ser Missense 5/8 -
16-1254325-G-A CACNA1H c.2318G>A p.Gly773Asp Missense 10/34 -
16-1254250-C-T CACNA1H c.2243C>T p.Ala748Val Missense 10/34 -
1-154544200-C-G CHRNB2 c.901C>G p.Leu301Val Missense 5/6 -
8-133186580-A-G KCNQ3 c.950T>C p.Ile317Thr Missense 6/15 -
12-52082594-A-G SCN8A c.667A>G p.Arg223Gly Missense 6/27 -
14-63269274-AT-TG KCNH5 c.1594_1595delATinsTG p.Met532Trp Missense 9/11 -
2-167108345-C-A SCN9A c.3369G>T p.Leu1123Phe Missense 18/27 -
16-9916194-G-A GRIN2A c.2095C>T p.Pro699Ser Missense 11/14 -
12-52183134-G-A SCN8A c.4351G>A p.Gly1451Ser Missense 24/27 -
16-9934563-G-A GRIN2A c.1592C>T p.Thr531Met Missense 8/14 -
16-1258033-G-A CACNA1H c.3175G>A p.Ala1059Thr Missense 16/34 -
20-62078122-G-A KCNQ2 c.365C>T p.Ser122Leu Missense 2/8 -
16-9858474-T-C GRIN2A c.2927A>G p.Asn976Ser Missense 14/14 -
2-167160752-G-C SCN9A c.684C>G p.Ile228Met Missense 6/27 -
20-62071057-G-A KCNQ2 c.821C>T p.Thr274Met Missense 6/8 -
20-61981924-G-A CHRNA4 c.839C>T p.Ser280Phe Missense 5/6 -
16-9934602-C-T GRIN2A c.1553G>A p.Arg518His Missense 8/14 -
3-184076578-A-G CLCN2 c.244T>C p.Phe82Leu Missense 3/24 -
16-10032131-C-T GRIN2A c.692G>A p.Cys231Tyr Missense 4/14 -
16-1254369-C-T CACNA1H c.2362C>T p.Arg788Cys Missense 10/34 -
16-9923442-G-T GRIN2A c.1845C>A p.Asn615Lys Missense 10/14 -
20-47991056-G-T KCNB1 c.1041C>A p.Ser347Arg Missense 2/2 -
2-166012375-C-T SCN3A c.1070G>A p.Arg357Gln Missense 10/28 -
9-138660702-G-A KCNT1 c.1429G>A p.Ala477Thr Missense 15/31 -
8-133187719-T-C KCNQ3 c.914A>G p.Asp305Gly Missense 5/15 -
16-9923333-A-C GRIN2A c.1954T>G p.Phe652Val Missense 10/14 -
2-167136962-T-C SCN9A c.2215A>G p.Ile739Val Missense 14/27 -
2-166153563-C-T SCN2A c.304C>T p.Arg102* Nonsense 3/27 -
19-13428054-C-T CACNA1A c.1430G>A p.Arg477His Missense 11/48 -
1-111146191-G-A KCNA2 c.1214C>T p.Pro405Leu Missense 3/3 -
9-138650311-G-T KCNT1 c.811G>T p.Val271Phe Missense 10/31 -
19-35524448-C-T SCN1B c.253C>T p.Arg85Cys Missense 3/6 -
16-1255153-G-A CACNA1H c.2491G>A p.Val831Met Missense 11/34 -
9-138662820-G-C KCNT1 c.1887G>C p.Lys629Asn Missense 18/31 -
20-62076065-G-A KCNQ2 c.637C>T p.Arg213Trp Missense 4/8 -
20-62076635-C-T KCNQ2 c.470G>A p.Trp157* Nonsense 3/8 -
9-140056657-C-T GRIN1 c.1666C>T p.Gln556* Nonsense 12/20 -
9-138670627-G-A KCNT1 c.2688G>A p.Met896Ile Missense 23/31 -
9-138660693-C-T KCNT1 c.1420C>T p.Arg474Cys Missense 15/31 -
8-27327432-G-A CHRNA2 c.140C>T p.Thr47Met Missense 3/7 -
1-154544222-T-C CHRNB2 c.923T>C p.Val308Ala Missense 5/6 -
15-27017906-C-T GABRB3 c.94G>A p.Gly32Arg Missense 2/9 -
20-62078131-T-C KCNQ2 c.356A>G p.Glu119Gly Missense 2/8 -
16-1251993-C-T CACNA1H c.1543C>T p.His515Tyr Missense 9/34 -
9-2718593-T-G KCNV2 c.854T>G p.Met285Arg Missense 1/2 -
12-13761703-T-A GRIN2B c.1844A>T p.Asn615Ile Missense 9/13 -
9-140056636-A-C GRIN1 c.1645A>C p.Ser549Arg Missense 12/20 -
5-45695897-G-A HCN1 c.299C>T p.Ser100Phe Missense 1/8 -
20-47990964-A-G KCNB1 c.1133T>C p.Val378Ala Missense 2/2 -
15-26866594-T-C GABRB3 c.328A>G p.Asn110Asp Missense 4/9 -
3-184076576-G-T CLCN2 c.246C>A p.Phe82Leu Missense 3/24 -
16-9857650-C-T GRIN2A c.3751G>A p.Asp1251Asn Missense 14/14 -
8-133186541-C-A KCNQ3 c.989G>T p.Arg330Leu Missense 6/15 -
5-161569244-C-T GABRG2 c.844C>T p.Pro282Ser Missense 7/9 -
20-62073835-G-T KCNQ2 c.740C>A p.Ser247* Nonsense 5/8 -
20-62073835-G-C KCNQ2 c.740C>G p.Ser247Trp Missense 5/8 -
11-17793600-G-A KCNC1 c.959G>A p.Arg320His Missense 2/2 -
16-9862854-T-C GRIN2A c.2449A>G p.Met817Val Missense 13/14 -
20-62076082-C-T KCNQ2 c.620G>A p.Arg207Gln Missense 4/8 -
2-167142893-C-T SCN9A c.1555G>A p.Glu519Lys Missense 11/27 -
20-62071009-C-T KCNQ2 c.869G>A p.Gly290Asp Missense 6/8 -
16-10032272-A-C GRIN2A c.551T>G p.Ile184Ser Missense 4/14 -
12-52200120-G-A SCN8A c.4850G>A p.Arg1617Gln Missense 27/27 -
16-1256126-G-A CACNA1H c.2626G>A p.Ala876Thr Missense 12/34 -
8-133141790-G-A KCNQ3 c.2338C>T p.Arg780Cys Missense 15/15 -
3-184076765-C-T CLCN2 c.218G>A p.Arg73His Missense 2/24 -
1-111146617-A-G KCNA2 c.788T>C p.Ile263Thr Missense 3/3 -
5-161580257-G-A GABRG2 c.1287G>A p.Trp429* Nonsense 9/9 -
16-9892154-CAAGGC-C GRIN2A c.2334_2338delCTTGC p.Leu779Serfs*5 Frameshift 12/14 -
16-9934516-GAAG-G GRIN2A c.1639_1641delTCT p.Ser547delSer InFrameDeletion 8/14 -
9-140057118-A-C GRIN1 c.1940A>C p.Tyr647Ser Missense 14/20 -
12-52200885-G-A SCN8A c.5615G>A p.Arg1872Gln Missense 27/27 -
15-26806245-G-A GABRB3 c.914C>T p.Ala305Val Missense 8/9 -
16-1257314-G-A CACNA1H c.2947G>A p.Gly983Ser Missense 14/34 -
5-161113333-C-T GABRA6 c.136C>T p.Arg46Trp Missense 2/9 -
1-154548333-C-G CHRNB2 c.1434C>G p.Phe478Leu Missense 6/6 -
1-154548333-C-A CHRNB2 c.1434C>A p.Phe478Leu Missense 6/6 -
16-1261517-G-A CACNA1H c.4387G>A p.Asp1463Asn Missense 23/34 -
20-62076080-T-C KCNQ2 c.622A>G p.Met208Val Missense 4/8 -
19-35523464-G-A SCN1B c.73G>A p.Asp25Asn Missense 2/6 -
12-52200884-C-T SCN8A c.5614C>T p.Arg1872Trp Missense 27/27 -
16-9934513-C-T GRIN2A c.1642G>A p.Ala548Thr Missense 8/14 -
20-47990849-G-T KCNB1 c.1248C>A p.Phe416Leu Missense 2/2 -
16-9857574-G-C GRIN2A c.3827C>G p.Ala1276Gly Missense 14/14 -
1-154548331-T-C CHRNB2 c.1432T>C p.Phe478Leu Missense 6/6 -
9-138651532-G-A KCNT1 c.862G>A p.Gly288Ser Missense 11/31 -
16-9923279-C-T GRIN2A c.2007+1G>A - IntronicSNV - 10/13
9-138671246-C-T KCNT1 c.2771C>T p.Pro924Leu Missense 24/31 -
2-166019128-T-C SCN3A c.905A>G p.Asn302Ser Missense 8/28 -
19-35524401-A-C SCN1B c.208-2A>C - IntronicSNV - 2/5
5-161531032-G-C GABRG2 c.769G>C p.Gly257Arg Missense 6/9 -
16-9916176-T-C GRIN2A c.2113A>G p.Met705Val Missense 11/14 -
5-45396623-C-G HCN1 c.1201G>C p.Asp401His Missense 4/8 -
9-138650285-G-A KCNT1 c.785G>A p.Arg262Gln Missense 10/31 -
20-61981885-G-A CHRNA4 c.878C>T p.Thr293Ile Missense 5/6 -
5-161580138-C-T GABRG2 c.1168C>T p.Gln390* Nonsense 9/9 -
5-161522557-G-A GABRG2 c.316G>A p.Ala106Thr Missense 3/9 -
16-10031940-C-T GRIN2A c.883G>A p.Gly295Ser Missense 4/14 -
5-161522561-T-C GABRG2 c.320T>C p.Ile107Thr Missense 3/9 -
15-26806254-T-C GABRB3 c.905A>G p.Tyr302Cys Missense 8/9 -
16-1251945-G-A CACNA1H c.1495G>A p.Gly499Ser Missense 9/34 -
20-62065223-G-C KCNQ2 c.1057C>G p.Arg353Gly Missense 8/8 -
16-9858691-T-A GRIN2A c.2710A>T p.Ile904Phe Missense 14/14 -
16-9984857-G-A GRIN2A c.1108C>T p.Arg370Trp Missense 5/14 -
5-45696056-C-A HCN1 c.140G>T p.Gly47Val Missense 1/8 -
10-78850191-T-C KCNMA1 c.1301A>G p.Asp434Gly Missense 10/27 -
5-161524845-C-G GABRG2 c.529C>G p.Arg177Gly Missense 4/9 -
2-167138296-T-C SCN9A c.1964A>G p.Lys655Arg Missense 13/27 -
16-9923342-G-C GRIN2A c.1945C>G p.Leu649Val Missense 10/14 -
9-138667192-C-G KCNT1 c.2280C>G p.Ile760Met Missense 20/31 -
5-161531032-G-A GABRG2 c.769G>A p.Gly257Arg Missense 6/9 -
2-167099128-C-G SCN9A c.3478G>C p.Glu1160Gln Missense 19/27 -
8-133187704-C-A KCNQ3 c.929G>T p.Gly310Val Missense 5/15 -
20-47990976-G-A KCNB1 c.1121C>T p.Thr374Ile Missense 2/2 -
20-62076634-C-T KCNQ2 c.471G>A p.Trp157* Nonsense 3/8 -
9-138670626-T-A KCNT1 c.2687T>A p.Met896Lys Missense 23/31 -
19-48919333-C-G GRIN2D c.1656C>G p.Phe552Leu Missense 7/13 -
19-48919333-C-A GRIN2D c.1656C>A p.Phe552Leu Missense 7/13 -
16-1252303-C-T CACNA1H c.1853C>T p.Pro618Leu Missense 9/34 -
20-47990896-C-T KCNB1 c.1201G>A p.Gly401Arg Missense 2/2 -
9-140056638-C-G GRIN1 c.1647C>G p.Ser549Arg Missense 12/20 -
16-1260082-G-C CACNA1H c.3792G>C p.Gln1264His Missense 18/34 -
5-160972234-A-G GABRB2 c.236T>C p.Met79Thr Missense 4/10 -
2-166229841-G-A SCN2A c.3956G>A p.Arg1319Gln Missense 21/27 -
12-52145307-C-T SCN8A c.2300C>T p.Thr767Ile Missense 14/27 -
9-140056638-C-A GRIN1 c.1647C>A p.Ser549Arg Missense 12/20 -
5-161520962-A-G GABRG2 c.236A>G p.Asn79Ser Missense 2/9 -
16-10274033-G-C GRIN2A c.236C>G p.Pro79Arg Missense 3/14 -
20-62076112-A-G KCNQ2 c.590T>C p.Leu197Pro Missense 4/8 -
12-14019004-C-G GRIN2B c.139G>C p.Glu47Gln Missense 2/13 -
4-47408723-C-T GABRB1 c.860C>T p.Thr287Ile Missense 8/9 -