eout="wsug(event, 0)">p.Arg617ThrfsX10(DI-DII)Frameshift SMEI paternal mosaic(13.59%) Yang X.2017 62 c.1852C>T p.Arg618Cys((DI-DII)Missense PEFS+No symptom (Biparental) 1, two consanguineous pedigrees 2/2 Brunklaus A.2015 63 c.2134C>T p.Arg712X(DI-DII)Nonsense SMEI No symptom(Maternal)Mosaic(~23%)2 1/1 Depienne C.2010 64 c.2177-11dupT ND(DI-DII)Splice acceptor site GEFS+No symptom (Paternal&Maternal) 2 Mrabet H.2007 65 c.2284A>G p.Asn762Asp(DIIS1)Missense SMEI NA (Paternal) Zuberi SM.2011 66 c.2306T>A p.Phe769Tyr(DIIS1)Missense GEFS+No symptom(paternal) 2 1/3 Cetica V.2017 67 c.2369A>G p.Tyr790Cys(DIIS1-S2)Missense GEFS+FS(Paternal) 2 3/3 Annesi G.2003 PS NA Orrico A.2009 68 c.2369A>T p.Tyr790Phe(DIIS1-S2)Missense PS No symptom(paternal) 2 1/2 Cetica V.201769c.2378C>Tp.Thr793Met(DIIS1-S2)MissenseSMEINo symptom(Maternal) 21/2Kwong AK.2012 70 c.2523_2524delGC p.Thr841fsx1(DIIS3)Frameshift SMEI EP(Paternal) 2 2/2 Xu XJ.2012b 71 c.2575C>T p.Arg859Cys(DIIS4)Missense GEFS+FS(Paternal) 7/7 Barela AJ.2006 72 c.2576G>A p.Arg859His(DIIS4)Missense PEFS+GEFS+(Paternal) 2 2/2 Volkers L.2011 73 c.2584C>T p.Arg862X R862X(DIIS4)Nonsense GEFS+NA Orrico A.2009 74 c.2604G>T p.Lys868Asn(DIIS4)Missense GEFS+No symptom(maternal) 2 2/3 Cetica V.2017 75 c.2624C>T p.Thr875Met T875M(DIIS4)Missense PEFS+FS(Paternal) 10/10 Depienne C.2009 76 c.2624C>A p.Thr875Lys(DIIS4)Missense SME NA(Paternal) Depienne C.2009 77 c.2626T>A p.Leu876Ile(DIIS4)Missense SMEI NA(Maternal) Wang JW.2012 78 c.2696T>C p.Ile899Thr(DIIS5)Missense GEFS+NA Orrico A.200979c.2769G>A p.Met923Ile(DIIS5-S6)MissenseSMEIFS(paternal) Liu J.2018 80 c.2803A>C p.Asn935His((DIIS5-S6)Missense PEFS+GEFS+(Paternal) 2 2/2 Sun H.2008b 81 c.2867T>C p.Met956Thr(DIIS5-S6)Missense FS+Focal febrile seizures 4 7/7 Bechi .2015 82 c.2901G>T p.Met967Ile (DIIS6)Missense GEFS+FS(Maternal) 1/2 Selmer KK.2008 83 c.2917A>G p.Met973Val(DIIS6)Missense CGE No symptom(Paternal) 2 1/2 Harkin LA.2007 84 c.2928G>A p.Met976Ile(DIIS6)Missense SMEI FS+(Paternal) 2 3/3 Petrelli C.2012 GEFS+NA Orrico A.2009 85 c.3018T>G p.Asp1006Glu(DIIS6)Missense unclassified NA (Maternal) Zuberi SM.2011 86 c.3101T>C p.Ile1034Thr(DII-DIII)Missense ASD No symptom(Paternal) 2 1/2 Weiss LA.2003 87 c.3112T>C p.Phe1038Leu(DII-DIII)Missense ASD No symptom(Paternal) 2 2/3 Weiss LA.2003 88 c.3250A>T p.Ser1084Cys(DII-DIII)Missense JME JME(Paternal) 2 2/2 Jingami N.2014 89 c.3521C>G p.Thr1174Ser(DII-DIII)Missense MAE No symptom(Maternal) 2 1/2 Yordanova I.2011 BOE+FHM NA(Maternal) 3 5/5 Cest IME and ASD HM(Maternal) 2 2/2 90 c.3550+1G>A ND(DII-DIII)Splice donor site SMEI No symptom(Maternal)Mosaic 2 2/2 Gennaro E.2006 91 c.3610T>C p.Trp1204Arg(DII-DIII)Missense GEFS+GEFS+(Paternal) 5/5 Escayg A.2001 GEFS+FS(Paternal) Marini C.2007 92 c.3623G>A p.Arg1208Lys(DIIIS1)Missense SMEB NA (Maternal) Zuberi SM.2011 93 c.3629C>T p.Thr1210Met(DII-DIII)Missense GEFS+No symptom(paternal) 2 1/2 Cetica V.2017 94 c.3688C>T p.Leu1230Phe(DIIIS1)Missense GEFS+NA (Maternal) Zuberi SM.2011 95 c.3748G>C p.Lys1249Asn(DIIIS1-S2)Missense GEFS+NA Orrico A.2009 96 c.3749C>T p.Thr1250Met(DIIIS1-S2)Missense GEFS+NA Orrico A.2009 97 c.3809A>C p.Lys1270Thr(DIIIS2)Missense PEFS+GEFS+(Maternal) 13/14 Abou-Khalil B.2001 98 c.3820T>A p.Tyr1274Asn(DIIIS4)Missense GEFS+NA(Paternal) Ebrahimi A.2010 99 c.3878delA p.Asp1293ValfsX7(DIIIS3)Frameshift SMEI Single seizure(Paternal)Mosaic(~32.0%)2 1/1 Depienne C.2010 100 c.3880-1G>A ND(IVS19)Splice acceptor site SME No symptom(Paternal)Mosaic Verbeek NE.2013 101 c.3924A>T p.Glu1308Asp(DIIIS3-S4)Missense FS NA Orrico A.2009 SMEI No symptom(Paternal) 2 1/2 Nicita F.2010 SMEI NA(Maternal) Zuberi SM.2011 102 c.3985C>T p.Arg1329X(DIIIS4)Nonsense SMEI Migraine(Maternal)Mosaic(~5%) 2 2/2 Selmer KK.2009a 103 c.4057G>C p.Val1353Leu(DIIIS5)Missense PEFS+Unclassified EP(Maternal) 8/9 Wallace RH.2001 104 c.4075C>A p.Leu1359Ile(DIIIS5)Missense SMEI No symptom(maternal) 2 1/2 Cetica V.2017 105 c.4096G>A p.Val1366Ile(DIIIS5-S6)Missense FS+(&myoclonic)GEFS+(Paternal) 2 1/2 Osaka H.2007 GEFS+(&tonic)GEFS+(Maternal) Osaka H.2007 106 c.4101T>A p.Asn1367Lys(DIIIS5-S6)Missense SMEI IGE(Paternal) 2 1/1 Depienne C.2009 107 c.4114A>G p.Lys1372Glu (DIIIS5-S6)Missense GEFS+FS+ (Paternal) 14/17 Goldberg-Stern H.2014 108 c.4135G>T p.Val1379Leu(DIIIS5-S6)Missense PEFS+GEFS+(Maternal) 2 4/4 Mhanni AA.2011 109 c.4144G>C p.Gly1382Arg(DIIIS5-S6)Missense PEFS+FS(Maternal) 3 4/5 Xu XJ.2012a 110 c.4216G>A p.Ala1406Thr(DIIIS5-S6)Missense SMEI IGE(Paternal) 2 2/2 Lim BC.2011 111 c.4240A>G p.Asn1414Asp(DIIIS5-S6)Missense GEFS+NA (Paternal) Marini C.2007 112 c.4267C>T p.Leu1423Phe(DIIIS5-S6)Missense SMEI NA (Maternal) Zuberi SM.2011 113 c.4285G>T p.Ala1429Ser(DIIIS5-S6)Missense ADNFLE ADNFLE(Paternal) Sone D.2012 114 c.4298G>T p.Gly1433Val(DIIIS5-S6)Missense SMEI NA (Paternal) Zuberi SM.2011 115 c.4351C>A p.Pro1451Thr(DIIIS5-S6)Missense SME No symptom(Paternal)Mosaic(~22%)2 1/1 Huang AY.2014 116 c.4371G>C p.Leu1457Leu(DIIIS6)Missense ADNFLE ADNFLE(Paternal) Sone D.2012 117 c.4465C>A p.Gln1489Lys(DIII-DIV)Missense FHM FHM(Maternal) 13/13 Dichgans M.2005 118 c.4467G>C p.Gln1489His(DIII-DIV)Missense FHM + ERDB FHM(Maternal) 5/5 Vahedi K, 2009 119 c.4494C>G p.Ile1498Met(DIII-DIV)Missense FHM FHM(Paternal) 4 Weller CM.2014 120 c.4495T>C p.Phe1499Leu(DIII-DIV)Missense FHM + ERDB FHM(Maternal) 3 4/4 Vahedi K, 2009 121 c.4541T>C p.Leu1514Ser(DIII-DIV)Missense SMEI IGE(Maternal) 1/1 Depienne C.2010 122 c.4547C>A p.Ser1516X(DIII-DIV)Nonsense SMEI NA (Paternal) Zuberi SM.2011 SMEI NA (Paternal) Zuberi SM.2011 123 c.4581+3A>T ND(DIVS1)Splice donor site SMEI NA (Paternal) Zuberi SM.2011 124 c.4628T>C p.Phe1543Ser(DIVS1)Missense SIMFE No symptom 2 1/2 Harkin LA.2007 PEFS+NA(Maternal) Kim YO.2014 125 c.4723C>T p.Arg1575Cys(DIVS2)Missense SMEI No symptom(Maternal) 2 1/2 Depienne C.2009 Rasmussen No symptom(Paternal) 2 Ohmori I.2008 AERRPS No symptom(Paternal) Kobayashi K.2010 SMEB No symptom(Maternal) Lim BC.2011 SMEI NA(Maternal) Wang JW.2012 126 c.4727T>C p.Ile1576Thr(DIVS2)Missense SMEI No symptom(paternal) 2 2/5 Tuncer FN.2015 127 c.4781C>A p.Ser1594Tyr(DIVS2)Missense Ep and NDD No symptom(paternal)mosaic(15.8%)2 1/2 Stosser MB.2018 128 c.4787G>A p.Arg1596His(DIVS2-S3)Missense GEFS+NA (Paternal) Zuberi SM.2011 129 c.4831G>T p.Val1611Phe(DIVS3)Missense GEFS+GEFS+(Maternal) 2 2/2 Fujiwara T.2003 130 c.4834G>A p.Val1612Ile(DIVS3)Missense NA NA (Paternal) Depienne C.2009 SMEI No symptom(Maternal) Kwong AK.2012 131 c.4847T>C p.Ile1616Thr(DIVS3)Missense PEFS+PEFS+(Paternal)Mosaic(~13.3%)2 1/1 Shi YW.2012 132 c.4855A>G p.Met1619Val(DIVS3)Missense IE NA(Maternal) Wang JW.2012 133 c.4871T>C p.Leu1624Pro(DIVS3)Missense HM and Ep HM and Ep(maternal) 2 3/3 Fan C.2016134c.4871T>A p.Leu1624Gln(DIVS3)MissenseFFEMaternal Oates S.2018 135 c.4888G>A p.Val1630Met(DIVS3-S4)Missense SMEI NA Marini C.2007 136 c.4888G>C p.Val1630Leu(DIVS3-S4)Missense SMEB NA(Maternal) Wang JW.2012 137 c.4905C>G p.Phe1635Leu(DIVS4)Missense FS/GEFS+No symptom(maternal)-2 1/2 Zhang YH.2017 138 c.4921G>A p.Ala1641Thr(DIVS4)Missense SMEI No symptom(maternal)mosaic (20.30%) Zhang YH.2017 139 c.4943G>A p.Arg1648His(DIVS4)Missense GEFS+NA 5/5 Escayg A.2000 SMEI NA(Paternal) Depienne C.2009 140 c.4946T>A p.Leu1649Gln(DIVS4)Missense FHM FHM(Paternal) 4 6/6 Vanmolkot KR.2007 141 c.4968C>G p.Ile1656Met(DIVS4)Missense GEFS+FS+(Maternal) 2 4/4 Wallace RH.2001 142 c.4969C>T p.Arg1657Cys(DIVS4)Missense SME FS(Maternal) 4/4 Lossin C.2003 143 c.4973C>G p.Thr1658Arg(DIVS4-S5)Missense SMEI NA(Maternal) Depienne C.2009 144 c.4973C>T p.Thr1658Met(DIVS4-S5)Missense SMEI NA(Maternal) Depienne C.2009 SMEI FS(Maternal) 2 2/2 Xu XJ.2012b 145 c.4981C>T p.Phe1661Leu(DIVS4-S5)Missense FHM FHM(Maternal) 3 5/5 Weller CM.2014 146 c.4991T>A p.Met1664Lys(DIVS4-S5)Missense SMEI FS(Maternal) 4/4 Depienne C.2009 147 c.5002C>G p.Pro1668Ala(DIVS5)Missense SMEI No symptom(Maternal) 2 2/3 Nabbout R.2003 148 c.5003C>G p.Pro1668Arg(DIVS4-S5)Missense SME FS(Maternal)Mosaic(~27%)2 1/1 Huang AY.2014 149 c.5009T>G p.Leu1670Trp(DIVS4-S5)Missense HM No symptom(maternal) 2 5/5 Zhang YH.2017 HM No symptom(paternal) 3 3/3 Dhifallah S.2018 150 c.5045T>C p.Phe1682Ser (DIVS5)Missense SMEI FS(Paternal) 2 2/2 Fukuma G.2004 151 c.5047A>T p.Ile1683Phe(DIVS5)Missense unclassified NA (Maternal) Zuberi SM.2011 152 c.5054C>T p.Ala1685Val(DIVS5)Missense PEFS+PEFS+(Paternal) 5/5 Sugawara T.2001 153 c.5060T>C p.Phe1687Ser(DIVS5)Missense SMEB NA Marini C.2007 154 c.5126C>T p.Thr1709Ile(DIVS5-S6)Missense SMEB GEFS(Maternal) 2 2/2 Fujiwara T.2003 155 c.5138G>A p.Ser1713Asn(DIVS5-S6)Missense SMEI FS(Paternal) 2 3/3 Kimura K.2005 156 c.5140A>G p.Met1714Val(DIVS5-S6)Missense GEFS+2 Focal Epilepsy(paternal) 3 3/3 Tsai MH.2018 157 c.5216C>T p.Pro1739Leu(DIVS5-S6)Missense GEFS+NA (Paternal) Zuberi SM.2011 158 c.5225C>G p.Asp1742Gly(DIVS5-S6)Missense PEFS+FS+(Paternal) 3 4/4 Pineda-Trujillo N.2005 159 c.5239_5240dupAA p.Asn1747LysfsX33(DIVS5-S6)Frameshift SMEI FS(Maternal)Mosaic(~34.5%)2 2/2 Gennaro E.2006 160 c.5286A>C p.Gly1762Gly(DIVS6)Silent mutation PEFS+FS(Paternal) 2 2/2 Herini ES.2010 161 c.5346C>G p.Ile1782Met(DIVS6)Missense SMEI SEHT(Paternal)Mosaic(~17%)2 1/1 Depienne C.2010 162 c.5347G>A p.Ala1783Thr(DIVS6)Missense SMEI GEFS+(Maternal)Mosaic 2 1/1 Petrelli C.2012 163 c.5383G>A p.Glu1795Lys(DIVS6)Missense GEFS+GEFS+(Paternal) 2 5/5 Li N.2010 164 c.5483T>C p.Leu1828Ser(C-terminal)Missense Ep and NDD Affected (more severe compared with proband)mosaic (18.1%) Stosser MB.2018 165 c.5493delT p.Phe1831LeufX27(C-terminal)Frameshift SMEI IGE(Maternal)Mosaic(~22%)2 2/2 Depienne C.2010 166 c.5555T>C p.Met1852Thr(C-terminal)Missense SMEI FS+(Paternal) 2 5/5 Annesi G.2003 167 c.5569G>T p.Val1857Leu(C-terminal)Missense GEFS+FS(Paternal) 2 2/2 Nagao Y.2005 168 c.5596G>T p.Asp1866Tyr(C-terminal)Missense GEFS+GEFS+(Maternal) 4/4 Spampanato J.2004 169 c.5600T>C p.Ile1867Thr (C-terminal)Missense PEFS+NA 5/6 Hindocha N.2008 170 c.5734C>T p.Arg1912X(C-terminal)Nonsense SMEI No symptom(Paternal)Mosaic(~9%)2 1/1 Depienne C.2010 171 c.5768A>G p.Gln1923Arg(C-terminal)Missense PEFS+FS(Paternal)Mosaic(~22.8%)2 3/3 Shi YW.2012 172 c.5779A>G p.Arg1927Gly(C-terminal)Missense GEFS+GEFS+(Paternal) 2 2/2 Combi R.2009 173 c.5864T>C p.Ile1955ThrC-terminal)Missense GEFS+No symptom (Paternal) 2 1/2 Polizzi A.2012 174 c.5962C>T p.Arg1988Trp(C-terminal)Missense EA with FS+EA with FS(Paternal) 3 3/3 Carvill GL.2013 175 c.*1794C>T 3'UTR Missense SMEI No symptom(Maternal) 1/2 Zeng T. 2014 176 del SCN1A exon 1-22 Del SCN1A Partial gene deletion SMEI No symptom(Maternal)Mosaic 2 Altarescu G.2012 177 del SCN1A exon 2-4 Del SCN1A Partial gene deletion SMEI FS+(Maternal) 3 5/5 Guerrini R.2010 178 del SCN1A exon 1-26 Del SCN1A Whole gene deletion SMEI No symptom(Paternal)Mosaic(~20%)4 3/3 Suls A.2010 179 dup SCN1A exon 8-16 Dup SCN1A Partial gene duplication SMEI FS(Maternal)Mosaic(~32.5%)2 2/2 Marini C.2009 180 dup 2q24.3 Dup SCN1A,2A,3A Whole gene duplication NIE No symptom(Paternal)Mosaic(~15%)2 1/1 Raymond G. 2011

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Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China

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