onmouseout="wsug(event, 0)"> 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

Copyright ©2014 Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University

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

Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou 510260, China.