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SCN1A mutations list 11/38
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
50110c.1588_1589insAp.Arg530LysfsX10DI-DIIFrameshiftHaploinsufficiencySMEINAHaginoya K.2018
50210c.1596delAp.Gly533ValfsX11DI-DIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
50310c.1599_1603delTTTTCp.Phe534LeufsX4DI-DIIFrameshiftHaploinsufficiencyNADe novoL?fgren A.2010(unpublished)
50410c.1624C>Tp.Arg542XDI-DIINonsenseHaploinsufficiencySMEIDe novoMancardi MM.2006
SMEIDe novoDepienne C.2009
SMEIDe novoMarini C.2007
SMEIFamilial(Maternal,mosaic,asympt),P=2/2 Depienne C.2006
SMEDe novoSun H.2010
SMEINAZuberi SM.2011
Epilepsy and/or NDDNALindy AS.2018
50510 c.1625G>Ap.Arg542GlnDI-DIIMissenseP/﹢→P/O (43)JME,ASD,GEFS+NAEscayg A.2001
ASDFamilial(Paternal,asympt),P=2/3Weiss LA.2003
GEFS+FamilialOrrico A.2009
GEFS+Familial(Paternal, IGE),P=2/2Combi R.2009
IENAWang JW.2012
SMENALee HF.2014
Rolandic epilepsyFamilial(Maternal,asympt),P=1/2,Affected generations:2Lal D.2016
50610c.1628delTp.Leu543XDI-DIINonsenseHaploinsufficiencySMEINACetica V.2017
50710c.1630delAp.Thr544HisfsX14DI-DIIFrameshiftHaploinsufficiencySMEBDe novoLim BC.2011
50810c.1633dupTp.Tyr525LeufsX2DI-DIIFrameshiftHaploinsufficiencySMEINACetica V.2017
50910c.1634_1638delATGAAinsTp.Tyr545LeufsX12DI-DIIFrameshiftHaploinsufficiencySMEINAIshii A.2017
51010c.1636G>Tp.Glu546XDI-DIINonsenseHaploinsufficiencyPediatric refractory epilepsyNALiu J.2018
SMEINALiu J.2018
51110c.1639_1640dupAAp.Tyr549GlyfsX10DI-DIIFrameshiftHaploinsufficiencySMEINAZuberi SM.2011
51210c.1639_1640delAAp.Lys547GlufsX23DI-DIIFrameshiftHaploinsufficiencySMEINAHarkin LA.2007
SMEDepienne C.2009
51310c.1640dupAp.Arg548GlufsX23DI-DIIFrameshiftHaploinsufficiencySMEBDe novoOhmori I.2002
51410c.1662G>A DI-DIISplice donor siteNDSMEIDe novoSun H.2010
Epilepsy and/or NDDNALindy AS.2018
51510c.1658dupCp.Gln554fsX17DI-DIIFrameshiftHaploinsufficiencySMENAXu X.2014
51610c.1661A>Gp.Glu554ArgDI-DII linkerMissenseP/﹣→P/﹢(54)DSDe novoSkjei KL.2015
51710c.1662G>Tp.Gln554HisDI-DIIMissenseP/O→P/﹢(24) SMEDe novoGaily E.2013
518IVS10c.1662+1G>T DI-DIISplice acceptor siteNDSMEIDe novoMancardi MM.2006
519IVS10c.1662+2T>C DI-DIISplice donor siteNDSMEIDe novoHarkin LA.2007
Epilepsy and/or NDDNALindy AS.2018
520IVS10c.1662+3A>G DI-DIIsplice donor siteNDSMEIDe novoSun H.2010; Xu X.2014
521IVS10c.1663-3A>G DI-DIISplice donor siteNDSMEIDe novoSun H.2010
522IVS10c.1663-2A>T DI-DIISplice acceptor siteNDSMEIDe novoL?fgren A.2010(unpublished)
SMEIDe novoMahdieh N.2018
523IVS10c.1663-1G>C DI-DIISplice acceptor siteNDSMEIDe novoHarkin LA.2007
Epilepsy and/or NDDNALindy AS.2018
52411c.1664_1667del4ins12p.Ser555PhefsX6DI-DIIFrameshiftHaploinsufficiencySMEIDe novoZuberi SM.2011
52511c.1667delTp.Leu556CysfsX2DI-DIIFrameshiftHaploinsufficiencySMEIDe novoSun H.2008a
52611c.1678delCp.Arg560ValfsX63DI-DIIFrameshiftHaploinsufficiencyEpNAHesse AN.2018
52711c.1679_1686delGTGGCTCCp.Arg560ProfsX8DI-DIIFrameshiftHaploinsufficiencySMEIDe novoZuberi SM.2011
52811c.1687delCp.Leu563TyrfsX60DI-DIIFrameshiftHaploinsufficiencySMEIDe novoHarkin LA.2007
52911c.1688T>Ap.Leu563GlnDI-DIIMissenseN→P/O (113)Episodic ataxiaNAChoi KD.2017
53011c.1696C>Tp.Pro566SerDI-DIIMissenseN→P/O (74)SMEI SUDEPUsluer S.2016
53111c.1702C>T p.Arg568XDI-DIINonsenseHaploinsufficiencySMEBDe novoOhmori I.2002
SMEINAMarini C.2007
SMEI2NAZuberi SM.2011
ICEGTCNAVilleneuve N.2014
SME+AENAOkumura A.2012
SMEINAKothur K.2018
53211c.1703G>Ap.Arg568GlnDI-DIIMissenseP/﹢→P/﹣ (43)EE (early infantile)NAButler KM.2017
EE (early infantile)NAArafat A.2017
53311c.1709G>Ap.Ser570AsnDI-DIIMissenseP/O→P/O(46)EE (early onset)NAPosey JE.2017
53411c.1709G>Tp.Ser570IleDI-DIIMissenseP/O→N (142)GEFS+Familial，P=6/11Cetica V.2017
53511c.1714_1718delACAAGp.Thr572ProfsX5DI-DIIFrameshiftHaploinsufficiencyUnclassifiedNAZuberi SM.2011
53611c.1724delTp.Phe575SerfsX48DI-DIIFrameshiftHaploinsufficiencyCFE(SIMFE/FS)De novoHarkin LA.2007
PEFS+ De novoKim YO.2014
Epilepsy and/or NDDNALindy AS.2018
53711c.1738C>Tp.Arg580XDI-DIINonsenseHaploinsufficiencySMEIFamilial(Maternal,mosaic,asympt),P=2/2Depienne C.2009,2010
SMEINAZuberi SM.2011
SMEINAArlier Z.2010
53811c.1739_1742dupGAGCp.Lys582SerfsX7DI-DIIFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
53911c.[1804G>T(;)4723C>T]p.[Glu602X(;) Arg1575Cys]DI-DIINonsense[Haploinsufficiency(;)P/﹢→N (180); GOF]SMEIDe novoDepienne C.2009
Compound
54011c.1811G>A p.Arg604HisDI-DIIMissenseP/﹢→P/﹢(29)SMEINAHarkin LA.2007
MissenseIENAWang JW.2012
JME/Early onset absence epilepsy/Rolandic epilepsy3 Familial(2 Paternal,1 maternal ;asympt),P=3/6,Affected generations:2Lal D.2016
SMEIFamilial(Paternal,FS),P=3/3,Affected generations:2Fendri-Kriaa N.2009
JMEFamilial JME (two families)Escayg A.2001
54111c.1819dupTp.Ser607PhefsX21DI-DIIFrameshiftHaploinsufficiencySMEIDe novoL?fgren A.2010(unpublished)
54211c.1819delTp.Ser607ProfsX16DI-DIIFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
54311c.1821delCp.Leu608CysfsX15DI-DIIFrameshiftHaploinsufficiencySMEBNAOhmori I.2002
SMEDepienne C.2009
54411c.1834C>Tp.Arg612XDI-DIINonsenseHaploinsufficiencySMEIDe novoSun H.2008a
SMEINAXu X.2014
54511c.1837C>Tp.Arg613XDI-DIINonsenseHaploinsufficiencySMEIDe novoMancardi MM.2006
SMEIDe novoDepienne C.2009
NA1De novo;1NADepienne C.2009
SMEIDe novoKearney JA.2006
SMEIDe novoZuberi SM.2011
SMEINAWang JW.2012
SMENARodda JM.2012
SMENAMoehring J.2013
SMENALee HF.2014
SMENAXu X.2014
Epilepsy and/or NDDNALindy AS.2018
54611c.1846delGp.Glu616ArgfsX7DI-DIIFrameshiftHaploinsufficiencySMEINACetica V.2017
54711c.1848G>Cp.Glu616AspDI-DIIMissenseP/﹣→P/﹣(45)Epilepsy, drug-resistantNAParrini E.2017
54811c.1850_1851delGAp.Arg617ThrfsX10DI-DIIFrameshiftHaploinsufficiencySMEIpaternalYang X.2017
54911c.[1852C > T]; [1852C > T]p.[(Arg618Cys)]; [(Arg618Cys)]DI-DIIMissenseP/﹢→P/O (180)PEFS+(proband PEFS+ )Familial(Biparental)Brunklaus A.2015
55011c.1852C>Tp.Arg618CysDI-DIIMissenseP/﹢→P/O (180)PEFS+ (proband PEFS+ )Familial (Biparental)Brunklaus A.2015
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