SCN1A mutations list 2/38
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
511c.241G>Ap.Asp81AsnN-terminalMissenseP/﹣→P/O (23)SMEIDe novoUsluer S.2016
521c.243C>Ap.Asp81GluN-terminalMissenseP/﹣→P/﹣(45)SMEBDe novoL?fgren A.2010(unpublished)
531c.243C>Gp.Asp81GluN-terminalMissenseP/﹣→P/﹣(45)Ep and/or NDDNALindy AS.2018
541c.249C>Ap.Tyr83XN-terminalNonsenseHaploinsufficiencySMEBDe novoZuberi SM.2011
551c.249C>Gp.Tyr83XN-terminalNonsenseHaploinsufficiencySMEIDe novoNabbout R.2003
SMEIDe novoMarini C.2007
SMEINAKo A.2018
561c.249dupCp.Tyr84LeufsX4N-terminalFrameshiftHaploinsufficiencySMEINAIshii A.2017
571c.251A>Gp.Tyr84CysN-terminalMissenseP/O→N (194)SMEIDe novoHarkin LA.2007
SMEIDe novoWang JW.2012
SMEINAWang JW.2012
581c.253_254dupATp.Asn86SerfsX7N-terminalFrameshiftHaploinsufficiencySMEINAIshii A.2017
59IVS1c.264+2T>C N-terminal Splice donor siteNDSMEIDe novoWang JW.2012
60IVS1c.264+5G>A N-terminalSplice donor siteNDSMEIDe novoMancardi MM.2006
61IVS1c.264+5G>C N-terminal Splice donor siteNDSMENALee HF.2014
62IVS1c.264+4_264+7delAGTG N-terminalSplice donor siteNDSMEINAZuberi SM.2011
63IVS1c.264+2T>G N-terminalSplice donor siteNDSMEINAIshii A.2017
64IVS1c.265-3C>T N-terminalSplice acceptor siteNDGEFS+Familial(Maternal)Zuberi SM.2011
65IVS1c.265-3C>A N-terminalSplice acceptor siteNDSMEIDe novoMarini C.2007
66IVS1c.265-1G>A N-terminalSplice acceptor siteNDSMEIDe novoHarkin LA.2007
SMEDepienne C.2009
Epilepsy and/or NDDNALindy AS.2018
67IVS1c.265-1G>C N-terminalSplice acceptor siteNDNADe novoDepienne C.2009
682c.269T>Cp.Phe90SerN-terminal MissenseN→P/O (155)IENASun H.2008a
NAWang JW.2012
SMEINAButler KM.2017
SMEIFather, FS at the early age,MOSAICXu X.2015
692c.272T>Cp.Ile91ThrN-terminalMissenseN→P/O (89)SMEIDe novoSun H.2008a
SMEINAXu X.2014
702c.272_273delTAp.Ile91SerfsX4N-terminalFrameshift HaploinsufficiencySMEINADepienne C.2009
SMEBNA Villeneuve N.2014
712 NAp.Ile91fsN-terminalFrameshift HaploinsufficiencySME NALee HF.2014
722c.277_278delTTp.Leu93GlufsX2N-terminalFrameshiftHaploinsufficiencySMEIDe novoMancardi MM.2006
Riva D.2009
732c.278T>C p.Leu93SerN-terminal MissenseN→P/O (145)SMENALee HF.2014
742c.278delTp.Leu93XN-terminalNonsenseHaploinsufficiencySMEINACetica V.2017
752c.282T>Ap.Asn94LysN-terminalMissenseP/O→P/﹢ (94)SMEIDe novoIshii A.2017
762c.283_286dupAAAGp.Gly96GlufsX24N-terminalFrameshiftHaploinsufficiencyIntellectual disability, challenging behaviour & seizuresDe novoFry AE.2016
772 c.289_292delAAGG p.Lys97fsx14N-terminalFrameshift HaploinsufficiencySMENAXu X.2014
782c.292G>Cp.Ala98ProN-terminalMissenseN→N (27)SMEIDe novoZuberi SM.2011
792c.292delGp.Ala98ProfsX14N-terminalFrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
802c.301C>Tp.Arg101TrpN-terminalMissenseP/﹢→N (101)SMEB-SWDe novoHarkin LA.2007
SMEINADepienne C.2009
SMEIDe novoSun H.2010
SMEINAWang JW.2012
PE + FSNAFry AE.2016
SMEINAKothur K.2018
Epilepsy and/or NDDNALindy AS.2018
SMEINAUsluer S.2016
812c.302G>Ap.Arg101GlnN-terminalMissenseP/﹢→P/O (43)SMEBDe novoFukuma G.2004
SMEBDe novoMarini C.2007
SMEIDe novoHarkin LA.2007
SMEI/NADe novo;NADepienne C.2009
SMEIFamilial(Maternal,mosaic, FS+),p=3/3Sun H.2010
GEFS+NAEbrahimi A.2010
SMEI2De novo;1NAZuberi SM.2011
SMEIDe novoPetrelli C.2012
SMEBDe novoWang JW.2012
IENAWang JW.2012
PEFS+Familial(Maternal,mosaic,FS+ ),p=3/3Xu XJ.2012a
SMEDe novoVerbeek NE.2013
GEFS+NA Tonekaboni SH.2013
PEFS+De novo Kim YO.2014
SMENALee HF.2014
SMEDe novoDjemie T.2016
Epilepsy and/or NDDNALindy AS.2018
823c.305dupTp.Ser103GlnfsX16N-terminalFrameshiftHaploinsufficiencyAbnormality of the nervous systemNARetterer K.2016
832c.307A>Gp.Ser103GlyN-terminalMissenseP/O→N (56)SMEI Familial(Paternal)Ebrahimi A.2010
NAFujiwara T.2003
SMENATonekaboni SH.2013
842c.308G>Tp.Ser103IleN-terminalMissenseP/O→N (142)SMEINAXu X.2015
852c.311C>Tp.Ala104ValN-terminalMissenseN→N (64)NANAL?fgren A.2010(unpublished)
SMEIDe novoKwong AK.2012
Epilepsy and/or NDDNALindy AS.2018
TLESon severe infantile EE, Son FS+Myers KA.2017
SMEIDe novoWang Y.2017
862c.314C>Tp.Thr105IleN-terminalMissenseP/O→N (89)SMEINAWang JW.2012
Epilepsy and/or NDDNALindy AS.2018
872c.317C>Tp.Ser106PheN-terminalMissenseP/O→N (155)FE(MCDs)Familial(Paternal,epilepsy),P=2/2Barba C.2014
882c.320C>Ap.Ala107AspN-terminalMissenseN→P/﹣(126)SMEIDe novoIshii A.2017
892c.323T>Gp.Leu108ArgN-terminalMissenseN→P/﹢(102)SMEINAZuberi SM.2011
SMEBNAZuberi SM.2011
Secondary epilepsyNATang S.2011
902c.323T>Cp.Leu108ProN-terminalMissenseN→N (98)SMEINAXu X.2015
912c.332T>Ap.Leu111XN-terminalNonsenseHaploinsufficiencyEP and NDDmosaic pathogenic variantStosser MB.2018
Ep and/or NDDNALindy AS.2018
922c.335C>Tp.Thr112IleN-terminalMissenseP/O→N (89)SMEINAFujiwara T.2003
932 c.337C>A p.Pro113ThrN-terminal MissenseN→P/O (38)SMENAXu X.2014
Epilepsy and/or NDDNALindy AS.2018
942c.338C>Tp.Pro113LeuN-terminalMissenseN→N (98)Ep and/or NDDNALindy AS.2018
952 c.342_344delCAAinsAGGAGTT p.Phe114LeufsX6N-terminalFrameshift HaploinsufficiencySMEDe novoKodera H.2013
962c.350_351delTTp.Leu117GlnfsX6N-terminalFrameshiftHaploinsufficiencySMEIDe novoDepienne C.2009
972c.354G>Cp.Arg118SerN-terminalMissenseP/﹢→P/O (110)SMEIDe novoZucca C.2008
982c.368delAp.Lys123ArgfsX11DIS1FrameshiftHaploinsufficiencyEp and/or NDDNALindy AS.2018
992c.371T>Ap.Ile124AsnDIS1MissenseN→P/O (149)SME-Late onsetFamilial(Maternal,Mosaic,IGE),P=1/1 Depienne C.2009
1002c.379C>Gp.His127AspDIS1MissenseP/﹢→P/﹣(81)SMEBDe novoZuberi SM.2011
SMEINAZuberi SM.2011
DSNACetica V.2017
Epilepsy and/or NDDNALindy AS.2018