Inherited mutation list

NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
1c.80G>Cp.Arg27Thr(N-terminal)MissenseGEFS+No symptom(Paternal) 21/2Nicita F.2010
2c.133G>Ap.Asp45Asn(N-terminal)MissenseEA with FS+FS+(Paternal) 2 Carvill GL.2013
3c.187T>Cp.Phe63Leu(N-terminal)MissenseSMEINo symptom(PaternaL) 21/2Nicita F.2010
4c.203T>Cp.Ile68Thr(N-terminal)MissenseSMEBNA (Maternal) Zuberi SM.2011
5c.265-3C>TND(DIS3)Splice acceptor siteGEFS+NA (Maternal) Zuberi SM.2011
6c.302G>Ap.Arg101Gln(N-terminal)MissenseSMEIFS+(Maternal)Mosaic 23/3Sun H.2010
PEFS+FS+(Maternal)Mosaic 23/3Xu XJ.2012a
7c.307A>Gp.Ser103Gly(N-terminal)MissenseSMEINA(Paternal) Ebrahimi A.2010
8c.317C>Tp.Ser106Phe(N-terminal)MissenseFE(MCDs)Unclassified EP 22/2Barba C.2014
9c.371T>Ap.Ile124Asn(DIS1)MissenseSMEIIGE(Maternal)Mosaic(~25%)21/1Depienne C.2009
10c.412_413delATp.Ile138PhefsX11(DIS1)FrameshiftSMEINA (Paternal) Zuberi SM.2011
11c.434T>Cp.Met145Thr(DIS1)MissensePEFS+FS(Maternal) ≥35/5Colosimo E.2007
12c.541G>Tp.Glu181X(DIS2-S3)NonsenseGEFS+NA Orrico A.2009
13c.563A>Tp.Asp188Val(DIS2-S3)MissenseGEFS+FS+(Paternal) ≥38/9Wallace RH.2001
14c.568T>Cp.Trp190Arg W190R W190R(DIS3)MissenseSMEINo symptom(Maternal) 21/2Xu XJ.2012b
15c.571A>Tp.Asn191Tyr(DIS3)MissenseSMEIIGE(Paternal)Mosaic(~23%)21/1Depienne C.2010
16c.577C>Tp.Leu193Phe(DIS3)MissenseGEFS+GEFS+(Paternal) 49/9Cui XK.2011
17c.580G>Ap.Asp194Asn(DIS3)MissenseSMEIGEFS+(Paternal)Mosaic(30~35%)21/1Azmanov DN.2010
18c.602+1G>AND(DIS3)Splice donor siteSMEIGEFS+(Paternal)Mosaic(~28%)22/2Marini C.2007
SMEINo symptom(Maternal)Mosaic(~25%)22/3Depienne C.2010
19c.652T>Cp.Phe218Leu(DIS4)MissensePEFS+GEFS+(Paternal&Maternal) 25/5Livingston JH.2009
GEFS+GEFS+(Maternal) Catarino CB.2011
20c.715G>Ap.Ala239Thr(DIS4-S5)MissenseSMEBFS+(Paternal) ≥32/2Harkin LA.2007
21c.[730G>T(;) 735G>T(;) 736A>T]p.[Val244Leu(;)Lys245Asn(;)Lys246X](DIS4-S5)Compound mutationSMEINo symptom(Maternal)Mosaic(~15%)22/2Morimoto M.2006
22c.787C>Gp.Leu263Val(DIS5)MissenseFHM+EPNA 25/5Barros J.2014
FHM+EPFHM+EP(Paternal) 25/5Castro MJ.2008
23c.865G>Tp.Glu289X(DIS5-S6)NonsenseSMEIPartial epilepsy(Maternal) 22/2Nabbout R.2003
24c.890C>Tp.Thr297Ile(DIS5-S6)MissenseSMEINo symptom(Maternal) 22/2Nabbout R.2003
25c.940T>Cp.Trp314Arg(DIS5-S6)MissenseMAENA (Maternal) Zuberi SM.2011
26c.965-2A>CND(DIS5-S6)Splice acceptor siteSMEINo symptom(Paternal)Mosaic(5~10%)22/2Depienne C.2006
27c.1046A>Gp.Tyr349Cys(DIS5-S6)MissenseSMEIFS+(Paternal) 22/2Xu XJ.2012b
28c.1066A>Gp.Arg356Gly(DIS5-S6)MissenseSMEBNA Marini C.2007
29c.1118delTp.Leu373Cysfsx6(DIS5-S6)FrameshiftSMEIFS+(Paternal)Mosaic22/2Xu XJ.2012a
30c.1130G>Ap.Arg377Gln(DIS5-S6)MissenseGEFS+NA (Maternal) Zucca C.2008
31c.1162T>Cp.Tyr388His(DIS5-S6)MissenseSMEIGEFS+(Paternal) ≥310/10Mahoney K.2009
32c.1198A>Gp.Met400Val(DIS6)MissenseSMEINA (Biparental) Zuberi SM.2011
33c.1226T>Gp.Leu409Trp(DIS6)MissenseSMEINA(Maternal) Wang JW.2012
34c.1234T>Ap.Phe412Ile(DIS6)MissenseSMEBNo symptom(Paternal) Ebrahimi A.2010
35c.1377+1G>AND(DI-DII)Splice donor siteSMEIIGE(Paternal)Mosaic (~43%)21/1Depienne C.2010
36c.1378-1G>AND(DI-DII)Splice acceptor siteSMEINo symptom(Maternal) 21/2Harkin LA.2007
37c.1537delGp.Glu513LysfsX31(DI-DII)FrameshiftSMEISMEB(Paternal)Mosaic21/1Verbeek NE.2011
38c.1624C>Tp.Arg542X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~25%)22/2Depienne C.2006
39c.1625G>Ap.Arg542Gln(DI-DII)MissenseGEFS+IGE(Paternal) 22/2Combi R.2009
GEFS+NA Orrico A.2009
40c.1738C>Tp.Arg580X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~0.02%)22/2Depienne C.2010
41c.2134C>Tp.Arg712X(DI-DII)NonsenseSMEINo symptom(Maternal)Mosaic(~23%)21/1Depienne C.2010
42c.2177-11dupTND(DI-DII)Splice acceptor siteGEFS+No symptom (Paternal&Maternal) 2 Mrabet H.2007
43c.2284A>Gp.Asn762Asp(DIIS1)MissenseSMEINA (Paternal) Zuberi SM.2011
44c.2369A>Gp.Tyr790Cys(DIIS1-S2)MissenseGEFS+FS(Paternal) 23/3Annesi G.2003
PSNA Orrico A.2009
45c.2378C>Tp.Thr793Met(DIIS1-S2)MissenseSMEINo symptom(Maternal) 21/2Kwong AK.2012
46c.2523_2524delGCp.Thr841fsx1(DIIS3)FrameshiftSMEIEP(Paternal) 2 2/2Xu XJ.2012b
47c.2575C>Tp.Arg859Cys(DIIS4)MissenseGEFS+FS(Paternal) ≥37/7Barela AJ.2006
48c.2576G>Ap.Arg859His(DIIS4)MissensePEFS+GEFS+(Paternal) 22/2Volkers L.2011
49c.2584C>Tp.Arg862X R862X(DIIS4)NonsenseGEFS+NA Orrico A.2009
50c.2624C>Tp.Thr875Met T875M(DIIS4)MissensePEFS+FS(Paternal) ≥310/10Depienne C.2009
51c.2624C>Ap.Thr875Lys(DIIS4)MissenseSMENA(Paternal) Depienne C.2009
52c.2626T>Ap.Leu876Ile(DIIS4)MissenseSMEINA(Maternal) Wang JW.2012
53c.2696T>Cp.Ile899Thr(DIIS5)MissenseGEFS+NA Orrico A.2009
54c.2803A>Cp.Asn935His((DIIS5-S6)MissensePEFS+GEFS+(Paternal) 22/2Sun H.2008b
55c.2901G>Tp.Met967Ile (DIIS6)MissenseGEFS+FS(Maternal) ≥31/2Selmer KK.2008
56c.2917A>Gp.Met973Val(DIIS6)MissenseCGENo symptom(Paternal) 21/2Harkin LA.2007
57c.2928G>Ap.Met976Ile(DIIS6)MissenseSMEIFS+(Paternal) 23/3Petrelli C.2012
GEFS+NA Orrico A.2009
58c.3018T>Gp.Asp1006Glu(DIIS6)MissenseunclassifiedNA (Maternal) Zuberi SM.2011
59c.3101T>Cp.Ile1034Thr(DII-DIII)MissenseASDNo symptom(Paternal) 21/2Weiss LA.2003
60c.3112T>Cp.Phe1038Leu(DII-DIII)MissenseASDNo symptom(Paternal) 22/3Weiss LA.2003
61c.3250A>Tp.Ser1084Cys(DII-DIII)MissenseJMEJME(Paternal) 22/2Jingami N.2014
62c.3521C>Gp.Thr1174Ser(DII-DIII)MissenseMAENo symptom(Maternal) 21/2Yordanova I.2011
BOE+FHMNA(Maternal) 35/5Cestèle S.2013
IME and ASDHM(Maternal) 22/2Frosk P.2013
63c.3550+1G>AND(DII-DIII)Splice donor siteSMEINo symptom(Maternal)Mosaic22/2Gennaro E.2006
64c.3610T>Cp.Trp1204Arg(DII-DIII)MissenseGEFS+GEFS+(Paternal) ≥35/5Escayg A.2001
GEFS+FS(Paternal) Marini C.2007
65c.3623G>Ap.Arg1208Lys(DIIIS1)MissenseSMEBNA (Maternal) Zuberi SM.2011
66c.3688C>Tp.Leu1230Phe(DIIIS1)MissenseGEFS+NA (Maternal) Zuberi SM.2011
67c.3748G>Cp.Lys1249Asn(DIIIS1-S2)MissenseGEFS+NA Orrico A.2009
68c.3749C>Tp.Thr1250Met(DIIIS1-S2)MissenseGEFS+NA Orrico A.2009
69c.3809A>Cp.Lys1270Thr(DIIIS2)MissensePEFS+GEFS+(Maternal) ≥313/14Abou-Khalil B.2001
70c.3820T>Ap.Tyr1274Asn(DIIIS4)MissenseGEFS+NA(Paternal) Ebrahimi A.2010
71c.3878delAp.Asp1293ValfsX7(DIIIS3)FrameshiftSMEISingle seizure(Paternal)Mosaic(~32.0%)21/1Depienne C.2010
72c.3880-1G>AND(IVS19)Splice acceptor siteSMENo symptom(Paternal)Mosaic Verbeek NE.2013
73c.3924A>Tp.Glu1308Asp(DIIIS3-S4)MissenseFSNA Orrico A.2009
SMEINo symptom(Paternal) 21/2Nicita F.2010
SMEINA(Maternal) Zuberi SM.2011
74c.3985C>Tp.Arg1329X(DIIIS4)NonsenseSMEIMigraine(Maternal)Mosaic(~5%) 22/2Selmer KK.2009a
75c.4057G>Cp.Val1353Leu(DIIIS5)MissensePEFS+Unclassified EP(Maternal) ≥38/9Wallace RH.2001
76c.4096G>Ap.Val1366Ile(DIIIS5-S6)MissenseFS+(&myoclonic)GEFS+(Paternal) 21/2Osaka H.2007
GEFS+(&tonic)GEFS+(Maternal) ≥3 Osaka H.2007
77c.4101T>Ap.Asn1367Lys(DIIIS5-S6)MissenseSMEIIGE(Paternal) 21/1Depienne C.2009
78c.4114A>Gp.Lys1372Glu (DIIIS5-S6)MissenseGEFS+FS+ (Paternal) ≥314/17Goldberg-Stern H.2014
79c.4135G>Tp.Val1379Leu(DIIIS5-S6)MissensePEFS+GEFS+(Maternal) 24/4Mhanni AA.2011
80c.4144G>Cp.Gly1382Arg(DIIIS5-S6)MissensePEFS+FS(Maternal) 34/5Xu XJ.2012a
81c.4216G>Ap.Ala1406Thr(DIIIS5-S6)MissenseSMEIIGE(Paternal) 22/2Lim BC.2011
82c.4240A>Gp.Asn1414Asp(DIIIS5-S6)MissenseGEFS+NA (Paternal) Marini C.2007
83c.4267C>Tp.Leu1423Phe(DIIIS5-S6)MissenseSMEINA (Maternal) Zuberi SM.2011
84c.4285G>Tp.Ala1429Ser(DIIIS5-S6)MissenseADNFLEADNFLE(Paternal) Sone D.2012
85c.4298G>Tp.Gly1433Val(DIIIS5-S6)MissenseSMEINA (Paternal) Zuberi SM.2011
86c.4351C>Ap.Pro1451Thr(DIIIS5-S6)MissenseSMENo symptom(Paternal)Mosaic(~22%)21/1Huang AY.2014
87c.4371G>Cp.Leu1457Leu(DIIIS6)MissenseADNFLEADNFLE(Paternal) Sone D.2012
88c.4465C>Ap.Gln1489Lys(DIII-DIV)MissenseFHMFHM(Maternal) ≥313/13Dichgans M.2005
89c.4467G>Cp.Gln1489His(DIII-DIV)MissenseFHM + ERDBFHM(Maternal) 5/5Vahedi K, 2009
90c.4494C>Gp.Ile1498Met(DIII-DIV)Missense FHM FHM(Paternal) 4 Weller CM.2014
91c.4495T>Cp.Phe1499Leu(DIII-DIV)MissenseFHM + ERDBFHM(Maternal) 34/4Vahedi K, 2009
92c.4541T>Cp.Leu1514Ser(DIII-DIV)MissenseSMEIIGE(Maternal) ≥31/1Depienne C.2010
93c.4547C>Ap.Ser1516X(DIII-DIV)NonsenseSMEINA (Paternal) Zuberi SM.2011
SMEINA (Paternal) Zuberi SM.2011
94c.4581+3A>TND(DIVS1)Splice donor siteSMEINA (Paternal) Zuberi SM.2011
95c.4628T>Cp.Phe1543Ser(DIVS1)MissenseSIMFENo symptom 21/2Harkin LA.2007
PEFS+NA(Maternal) Kim YO.2014
96c.4723C>Tp.Arg1575Cys(DIVS2)MissenseSMEINo symptom(Maternal) 21/2Depienne C.2009
RasmussenNo symptom(Paternal) 2 Ohmori I.2008
AERRPSNo symptom(Paternal) Kobayashi K.2010
SMEBNo symptom(Maternal) Lim BC.2011
SMEINA(Maternal) Wang JW.2012
97c.4787G>Ap.Arg1596His(DIVS2-S3)MissenseGEFS+NA (Paternal) Zuberi SM.2011
98c.4831G>Tp.Val1611Phe(DIVS3)MissenseGEFS+GEFS+(Maternal) 22/2Fujiwara T.2003
99c.4834G>Ap.Val1612Ile(DIVS3)MissenseNANA (Paternal) Depienne C.2009
SMEINo symptom(Maternal) Kwong AK.2012
100c.4847T>Cp.Ile1616Thr(DIVS3)MissensePEFS+PEFS+(Paternal)Mosaic(~13.3%)21/1Shi YW.2012
101c.4855A>Gp.Met1619Val(DIVS3)MissenseIENA(Maternal) Wang JW.2012
102c.4888G>Ap.Val1630Met(DIVS3-S4)MissenseSMEINA Marini C.2007
103c.4888G>Cp.Val1630Leu(DIVS3-S4)MissenseSMEBNA(Maternal) Wang JW.2012
104c.4943G>Ap.Arg1648His(DIVS4)MissenseGEFS+NA ≥35/5Escayg A.2000
SMEINA(Paternal) Depienne C.2009
105c.4946T>Ap.Leu1649Gln(DIVS4)MissenseFHMFHM(Paternal) 46/6Vanmolkot KR.2007
106c.4968C>Gp.Ile1656Met(DIVS4)MissenseGEFS+FS+(Maternal) 24/4Wallace RH.2001
107c.4969C>Tp.Arg1657Cys(DIVS4)MissenseSMEFS(Maternal) ≥34/4Lossin C.2003
108c.4973C>Gp.Thr1658Arg(DIVS4-S5)MissenseSMEINA(Maternal) Depienne C.2009
109c.4973C>Tp.Thr1658Met(DIVS4-S5)MissenseSMEINA(Maternal) Depienne C.2009
SMEIFS(Maternal) 22/2Xu XJ.2012b
110c.4981C>Tp.Phe1661Leu(DIVS4-S5)MissenseFHMFHM(Maternal) 35/5Weller CM.2014
111c.4991T>Ap.Met1664Lys(DIVS4-S5)MissenseSMEIFS(Maternal) ≥34/4Depienne C.2009
112c.5002C>Gp.Pro1668Ala(DIVS5)MissenseSMEINo symptom(Maternal) 22/3Nabbout R.2003
113c.5003C>Gp.Pro1668Arg(DIVS4-S5)MissenseSMEFS(Maternal)Mosaic(~27%)21/1Huang AY.2014
114c.5045T>Cp.Phe1682Ser (DIVS5)MissenseSMEIFS(Paternal) 22/2Fukuma G.2004
115c.5047A>Tp.Ile1683Phe(DIVS5)MissenseunclassifiedNA (Maternal) Zuberi SM.2011
116c.5054C>Tp.Ala1685Val(DIVS5)MissensePEFS+PEFS+(Paternal) ≥35/5Sugawara T.2001
117c.5060T>Cp.Phe1687Ser(DIVS5)MissenseSMEBNA Marini C.2007
118c.5126C>Tp.Thr1709Ile(DIVS5-S6)MissenseSMEB GEFS(Maternal) 22/2Fujiwara T.2003
119c.5138G>Ap.Ser1713Asn(DIVS5-S6)MissenseSMEIFS(Paternal) 23/3Kimura K.2005
120c.5216C>Tp.Pro1739Leu(DIVS5-S6)MissenseGEFS+NA (Paternal) Zuberi SM.2011
121c.5225C>Gp.Asp1742Gly(DIVS5-S6)MissensePEFS+FS+(Paternal) 34/4Pineda-Trujillo N.2005
122c.5239_5240dupAAp.Asn1747LysfsX33(DIVS5-S6)FrameshiftSMEIFS(Maternal)Mosaic(~34.5%)22/2Gennaro E.2006
123c.5286A>Cp.Gly1762Gly(DIVS6)Silent mutationPEFS+FS(Paternal) 22/2Herini ES.2010
124c.5346C>Gp.Ile1782Met(DIVS6)MissenseSMEISEHT(Paternal)Mosaic(~17%)21/1Depienne C.2010
125c.5347G>Ap.Ala1783Thr(DIVS6)MissenseSMEIGEFS+(Maternal)Mosaic21/1Petrelli C.2012
126c.5383G>Ap.Glu1795Lys(DIVS6)MissenseGEFS+GEFS+(Paternal) 25/5Li N.2010
127c.5493delTp.Phe1831LeufX27(C-terminal)FrameshiftSMEIIGE(Maternal)Mosaic(~22%)22/2Depienne C.2010
128c.5555T>Cp.Met1852Thr(C-terminal)MissenseSMEIFS+(Paternal) 25/5Annesi G.2003
129c.5569G>Tp.Val1857Leu(C-terminal)MissenseGEFS+FS(Paternal) 22/2Nagao Y.2005
130c.5596G>Tp.Asp1866Tyr(C-terminal)MissenseGEFS+GEFS+(Maternal) ≥34/4Spampanato J.2004
131c.5600T>Cp.Ile1867Thr (C-terminal)MissensePEFS+NA ≥35/6Hindocha N.2008
132c.5734C>Tp.Arg1912X(C-terminal)NonsenseSMEINo symptom(Paternal)Mosaic(~9%)21/1Depienne C.2010
133c.5768A>Gp.Gln1923Arg(C-terminal)MissensePEFS+FS(Paternal)Mosaic(~22.8%)23/3Shi YW.2012
134c.5779A>Gp.Arg1927Gly(C-terminal)MissenseGEFS+GEFS+(Paternal) 22/2Combi R.2009
135c.5864T>Cp.Ile1955ThrC-terminal)MissenseGEFS+No symptom (Paternal) 21/2Polizzi A.2012
136c.5962C>Tp.Arg1988Trp(C-terminal)MissenseEA with FS+EA with FS(Paternal) 33/3Carvill GL.2013
137c.*1794C>T3'UTRMissenseSMEINo symptom(Maternal) 1/2Zeng T. 2014
138del SCN1A exon 1-22Del SCN1APartial gene deletion SMEINo symptom(Maternal)Mosaic2 Altarescu G.2012
139del SCN1A exon 2-4Del SCN1APartial gene deletion SMEIFS+(Maternal) 35/5Guerrini R.2010
140del SCN1A exon 1-26Del SCN1AWhole gene deletionSMEINo symptom(Paternal)Mosaic(~20%)43/3Suls A.2010
141dup SCN1A exon 8-16Dup SCN1APartial gene duplicationSMEIFS(Maternal)Mosaic(~32.5%)22/2Marini C.2009
142dup 2q24.3Dup SCN1A,2A,3AWhole gene duplication NIENo symptom(Paternal)Mosaic(~15%)21/1Raymond G. 2011