045T>Cp.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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