Supplementary Table S1: Comprehensive list of SCN1A mutations associated to Dravet Syndrome and its related phenotypes
Note: Mutation nomenclature is based on the HGVS guidelines (den Dunnen and Antonarakis, 2000) and the numbering of nucleotides reflects cDNA position, where position +1 denotes to the “A” of the initiation codon “ATG” of the SCN1A RefSeq ID NG_011906.1. Mutation given within parantheses indicate the mutation as reported in the original publication, based on a shorter SCN1A transcript.
Sl. No. / Nucleotide Change / Exon/Intron / Mutation type / Position in the peptide / Predicted change in the protein / De novo/ Inherited / Phenotype / Ethnicity / ReferencesExonic mutations
NR / h1u(5’UTR) / NR / NR / NR / NR / NR / NR / 1,2
NR / h1a(5’UTR) / NR / NR / NR / NR / NR / NR / 1,2
NR / h1b(5’UTR) / NR / NR / NR / NR / NR / NR / 1,2
NR / h1c(5’UTR) / NR / NR / NR / NR / NR / NR / 1,2
1 / c.1A>T / Exon 1 / Nonsense / N-terminal / p.Met1* / Unknown (Mother negative) / SMEI / Caucasian (French or European) / 3
2 / c.2T>C / Exon 1 / Missense / N-terminal / p.Met1Thr / Unknown / SMEI / Not Specified / 4
3 / c.7C>T / Exon 1 / Nonsense / N-terminal / p.Gln3* / De novo / SMEI / Caucasian / 5
4 / c.21-22ins A / Exon 1 / Frameshift / N-terminal / p.Pro8fs*12 / De novo / SMEI / Asian (Japanese) / 6
5 / c.41delT / Exon 1 / Frameshift / N-terminal / p.Phe14fs*91 / De novo / SMEI / Caucasian (European) / 7
6 / c.49_51del3 / Exon 1 / Deletion / N-terminal / p.Phe17del / Unknown / SMEI / Not Specified / 4
7 / c.58G>T / Exon 1 / Nonsense / N-terminal / p.Glu20* / De novo / SMEI / Caucasian (Belgian) / 8
c.58G>T / Exon 1 / Nonsense / N-terminal / p.Glu20* / Unknown / ICEGTC / Asian (Japanese) / 6
8 / c.67_68dupG / Exon 1 / Frameshift / N-terminal / p.Ala24fs*27 / Unknown / SMEI / Not Specified / 4
9 / c.76G>T / Exon 1 / Nonsense / N-terminal / p.Glu26* / Unknown / SMEI / Not Specified / 4
10 / c.111delC / Exon 1 / Frameshift / N-terminal / p.Pro37fs*91 / De novo / SMEI / Caucasian (European) / 9
c.111delC / Exon 1 / Frameshift / N-terminal / p.Pro37fs*91 / De novo / SMEI / Caucasian (French or European) / 3
11 / c.126delA / Exon 1 / Frameshift / N-terminal / P.Lys42fs*91 / Unknown (Mother negative) / SMEI / Asian (Japanese) / 6
12 / c.127delG / Exon 1 / Frameshift / N-terminal / p.Asp43fs*49 / De novo / SMEI / Caucasian (French or European) / 3
13 / c.172G>T / Exon 1 / Nonsense / N-terminal / p.Gly58* / De novo / SMEI / Not Specified / 4
14 / c.173G>T / Exon 1 / Missense / N-terminal / p.Gly58Val / Unknown / SMEI / Caucasian (French or European) / 3
15 / c.181C>T / Exon 1 / Missense / N-terminal / p.Leu61Phe / Unknown / SMEI / Caucasian (French or European) / 3
16 / c.195T>A / Exon 1 / Nonsense / N-terminal / p.Tyr65* / De novo / SMEI / Caucasian (Italian) / 10
c.195T>A / Exon 1 / Nonsense / N-terminal / p.Tyr65* / Unknown / SMEI / Caucasian (French or European) / 3
17 / c.203T>C / Exon 1 / Missense / N-terminal / p.Ile68Thr / Inherited (Maternal) / SMEB / Not Specified / 4
18 / c.220T>C / Exon 1 / Missense / N-terminal / p.Ser74Pro / De novo / GEFS+ / Not Specified / 11
19 / c.234G>T / Exon 1 / Missense / N-terminal / p.Glu78Asp / De novo / SMEI / Caucasian (French or Italian) / 12
c.234G>T / Exon 1 / Missense / N-terminal / p.Glu78Asp / De novo / SMEI / Caucasian (Italian) / 13
20 / c.235G>A / Exon 1 / Missense / N-terminal / p.Asp79Asn / De novo / SMEI / Not Specified / 4
21 / c.235G>C / Exon 1 / Missense / N-terminal / p.Asp79His / De novo / SMEB / Caucasian (European) / 7
c.235G>C / Exon 1 / Missense / N-terminal / p.Asp79His / De novo / SMEI / Caucasian (French or European) / 3
22 / c.249C>A / Exon 1 / Nonsense / N-terminal / p.Tyr83* / De novo / SMEB / Not Specified / 4
23 / c.249C>G / Exon 1 / Nonsense / N-terminal / p.Tyr83* / De novo / SMEI / Caucasian (French or Italian) / 12
c.249C>G / Exon 1 / Nonsense / N-terminal / p.Tyr83* / De novo / SMEI / Caucasian (Italian) / 13
c.249C>G / Exon 1 / Nonsense / N-terminal / p.Tyr83* / De novo / SMEI / Not Specified / 11
24 / c.251A>G / Exon 1 / Missense / N-terminal / p.Tyr84Cys / De novo / SMEI / Caucasian (European) / 7
c.251A>G / Exon 1 / Missense / N-terminal / p.Tyr84Cys / De novo / SMEI / Asian (Japanese) / 6
c.251A>G / Exon 1 / Missense / N-terminal / p.Tyr84Cys / Unknown / SMEI / Asian (Japanese) / 6
25 / del SCN1A / Exon 1-13 / Partial gene deletion / / / / / Unknown / SMEI / Not Specified / 14
26 / c.1-?_3429 +?del / Exon 1–16 / Partial gene deletion / / / / / De novo / SMEI / Caucasian (French or European) / 3
27 / del SCN1A / Exon 1-22 / Partial gene deletion / / / / / De novo / SMEI / Not Specified / 14
28 / c.1-?_4473 +?del / Exon 1–23 / Partial gene deletion / / / / / Unknown (Mother negative) / SMEI / Caucasian (French or European) / 3
29 / del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Not Specified / 11
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Asian (Japanese) / 15
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Asian (Japanese) / 15
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Asian (Japanese) / 15
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Asian (Japanese) / 15
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian (French or European) / 3
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / De novo / SMEI / Caucasian(Australia, France or Italy) / 14
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / De novo / SMEI / Caucasian(Australia, France or Italy) / 14
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / De novo / SMEI / Caucasian(Australia, France or Italy) / 14
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / De novo / SMEI / Caucasian(Australia, France or Italy) / 14
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / Unknown / SMEI / Caucasian(Australia, France or Italy) / 14
del SCN1A / Exon 1–26 / Whole gene deletion / / / / / De novo / SMEI / Caucasian (UK, British Population) / 16
30 / c.265-?_377+?del / Exon 2 / Partial gene deletion / N-terminal / p.Thr89_Ser128del / De novo / SMEI / Caucasian (Italian) / 17
31 / c.265-?_c.602+?del / Exon 2–6 / Partial gene deletion / / / / / Inherited (Maternal) / SMEI / Caucasian (Italian) / 18
32 / c.265-?_4284 + ?dup / Exon 2–21 / Partial gene duplication / N-terminal / p.Ala1429_Lys2009delins46 / Unknown / SMEI / Caucasian (French or European) / 3
33 / c.269T>C / Exon 2 / Missense / N-terminal / p.Phe90Ser / De novo / SMEI / Asian (Chinese) / 19
c.269T>C / Exon 2 / Missense / N-terminal / p.Phe90Ser / Unknown / SMEI / Asian (Chinese) / 20
c.269T>C / Exon 2 / Missense / N-terminal / p.Phe90Ser / Unknown / ICEGTC / Asian (Japanese) / 6
34 / c.272T>C / Exon 2 / Missense / N-terminal / p.Ile91Thr / De novo / SMEI / Asian (Chinese) / 19
c.272T>C / Exon 2 / Missense / N-terminal / p.Ile91Thr / De novo / SMEI / Asian (Chinese) / 20
35 / c.272_273del TA / Exon 2 / Frameshift / N-terminal / p.Ile91fs*93 / Unknown / SMEI / Caucasian (French or European) / 3
36 / c.277-278delTT / Exon 2 / Frameshift / N-terminal / p.Asn94* / De novo / SMEI / Caucasian (Italian) / 21
c.277-278delTT / Exon 2 / Frameshift / N-terminal / p.Asn94* / De novo / SMEI / Caucasian (Italian) / 13
37 / c.292G>C / Exon 2 / Missense / N-terminal / p.Ala98Pro / De novo / SMEI / Not Specified / 4
38 / c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / De novo / SMEI / Caucasian (European) / 7
c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / De novo / SMEB / Caucasian (European) / 7
c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / Unknown / SMEI / Caucasian (French or European) / 3
c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / De novo / SMEI / Asian (Chinese) / 20
c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / De novo / SMEI / Asian (Chinese) / 20
c.301C>T / Exon 2 / Missense / N-terminal / p.Arg101Try / Unknown / SMEI / Asian (Japanese) / 6
39 / c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEI / Asian (Japanese) / 22
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEI / Caucasian (European) / 7
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / Unknown / SMEB / Not Specified / 11
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / Unknown / SMEI / Caucasian (French or European) / 3
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / Unknown / SMEI / Caucasian (French or European) / 3
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEI / Caucasian (French or European) / 3
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / Inherited (Maternal) / SMEB / Asian (Chinese) / 20
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEI / Arabic (Iranian) / 23
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEI / Caucasian (Italian) / 18
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / De novo / SMEB / Asian (Japanese) / 6
c.302G>A / Exon 2 / Missense / N-terminal / p.Arg101Gln / Unknown / ICEGTC / Asian (Japanese) / 6
40 / c.307A>G / Exon 2 / Missense / N-terminal / p.Ser103Gly / Unknown / SMEI / Asian (Japanese) / 24
c.307A>G / Exon 2 / Missense / N-terminal / p.Ser103Gly / De novo / SMEI / Arabic (Iranian) / 23
41 / c.311C>T / Exon 2 / Missense / N-terminal / p.Ala104Val / De novo / SMEI / Asian (Chinese) / 25
42 / c.314C>T / Exon 2 / Missense / N-terminal / p.Thr105Ile / Unknown / SMEI / Asian (Japanese) / 6
43 / c.323T>G / Exon 2 / Missense / N-terminal / p.Leu108Arg / Unknown / SMEI / Not Specified / 4
c.323T>G / Exon 2 / Missense / N-terminal / p.Leu108Arg / De novo / SMEB / Not Specified / 4
44 / c.335C>T / Exon 2 / Missense / N-terminal / p Thr112Ile / Unknown / SMEI / Asian (Japanese) / 24
45 / c.350_351delTT / Exon 2 / Frameshift / N-terminal / p.Leu117fs*122 / De novo / SMEI / Caucasian (French or European) / 3
46 / c.354G>C / Exon 2 / Missense / N-terminal / p.Arg118Ser / De novo / SMEI / Caucasian (Italian) / 10
47 / c.371T>A / Exon 2 / Missense / DIS1 / p.Ile124Asn / Inherited (Maternal) / SMEI / Caucasian (French or European) / 3
48 / c.379C>G / Exon 2 / Missense / DIS1 / p.His127Asp / De novo / SMEB / Not Specified / 4
49 / c.383C>A / Exon 2 / Nonsense / N-terminal / p.Ser128* / De novo / SMEI / Caucasian (Frensch or Italian) / 12
c.383C>A / Exon 2 / Nonsense / N-terminal / p.Ser128* / De novo / SMEI / Caucasian (Italian) / 13
50 / del SCN1A / Exon 2-6 / Partial gene deletion / / / / / Unknown / SMEI / Caucasian(Australia, France or Italy) / 14
51 / c.387_389delATT / Exon 3 / Frameshift / DIS1 / p.Leu129del / De novo / SMEI / Caucasian (Italian) / 13
52 / c.412_413delAT / Exon 3 / Frameshift / DIS1 / p.Ile138fs*148 / Inherited (Paternal) / SMEI / Not Specified / 4
53 / c.426_427insT / Exon 3 / Frameshift / DIS1 / p.Val143fs*149 / De novo / SMEI / Asian (Japanese) / 6
54 / c.429_430delGT / Exon 3 / Frameshift / DIS1 / p.Val143fs*148 / De novo / SMEI / Asian (Japanese) / 22
c.429_430delGT / Exon 3 / Frameshift / DIS1 / p.Val143fs*148 / Unknown / SMEI / Caucasian (French or European) / 3
c.429_430delGT / Exon 3 / Frameshift / DIS1 / p.Val143fs*148 / De novo / ICEGTC / Asian (Japanese) / 6
55 / c.458G>A / Exon 3 / Nonsense / DIS1 / p.Trp153* / Unknown / SMEB / Not Specified / 4
c.458G>A / Exon 3 / Nonsense / DIS1 / p.Trp153* / Unknown / SMEB / Arabic (Turkish) / 26
56 / del SCN1A exon 3 / Exon 3 / Partial gene deletion / / / / / Unknown / SMEI / Caucasian(Australia, France or Italy) / 14
57 / dup SCN1A / Exon 3-10 / Partial gene duplication / / / / / De novo / SMEI / Asian (Chinese) / 20
58 / c.484A>C / Exon 4 / Missense / DIS2 / p.Thr162Pro / De novo / SMEI / Caucasian (Italian) / 13
59 / c.488G>A / Exon 4 / Missense / DIS2 / p.Gly163Glu / Unknown / SMEI / Asian (Japanese) / 27
60 / c.495T>A / Exon 4 / Nonsense / DIS2 / p.Tyr165* / De novo / SMEI / Caucasian (Frensch or Italian) / 12
61 / c.495_496insGTGAATC / Exon 4 / Frameshift / DIS2 / p.Thr166fs*170 / De novo / SMEI / Caucasian (European) / 7
62 / c.512T>A / Exon 4 / Missense / DIS2 / p.Ile171Lys / De novo / SMEB / Caucasian (European) / 7
63 / c.512T>G / Exon 4 / Missense / DIS2 / p.Ile171Arg / De novo / SMEI / Caucasian (French or European) / 3
64 / c.523G>A / Exon 4 / Missense / DIS2 / p.Ala175Thr / De novo / SMEB / Caucasian (European) / 7
65 / c.524C>T / Exon 4 / Missense / DIS2 / p.Ala175Val / De novo / SMEI / Caucasian (French or European) / 3
66 / c.529G>A / Exon 4 / Missense / DIS2-S3 / p.Gly177Arg / Unknown / SMEI / Asian (Japanese) / 27
67 / c.530G>A / Exon 4 / Missense / DIS2-S3 / p.Gly177Glu / De novo / SMEI / Caucasian (Frensch or Italian) / 12
68 / c.530delG / Exon 4 / Frameshift / DIS2-S3 / p.Gly177fs*180 / Unknown / SMEI / Asian (Japanese) / 24
69 / c.533T>C / Exon 4 / Missense / DIS2-S3 / p.Phe178Ser / Unknown / ICEGTC / Asian (Japanese) / 6
70 / c.535T>C / Exon 4 / Missense / DIS2-S3 / p.Cys179Arg / Unknown / SMEI / Asian (Japanese) / 6
71 / c.541G>T / Exon 4 / Nonsense / DIS2-S3 / p.Glu181* / Inherited / GEFS+ / Caucasian (Italian) / 17
72 / c.563A>T / Exon 4 / Missense / DIS2-S3 / p.Asp188Val / Inherited / GEFS+ / Caucasian (Australian) / 28
73 / c.568T>C / Exon 4 / Missense / DIS3 / p.Try190Arg / De novo / SMEI / Asian (Japanese) / 22
c.568T>C / Exon 4 / Missense / DIS3 / p.Try190Arg / Unknown / SMEI / Asian (Japanese) / 6
74 / c.569G>A / Exon 4 / Nonsense / DIS3 / p.Trp190* / De novo / SMEI / Asian (Chinese) / 25
75 / c.570G>A / Exon 4 / Nonsense / DIS3 / p.Trp190* / De novo / SMEI / Not Specified / 11
76 / c.571A>T / Exon 4 / Missense / DIS3 / p.Asn191Tyr / Inherited (Paternal) / SMEI / Caucasian (French or European) / 3
77 / c.573C>G / Exon 4 / Missense / DIS3 / p.Asn191Lys / Unknown / SMEI / Caucasian (French or European) / 3
78 / c.575G>A / Exon 4 / Nonsense / DIS3 / p.Try192* / De novo / SMEI / Caucasian (French or European) / 3
79 / c.580G>A / Exon 4 / Missense / DIS3 / p.Asp194Asn / Unknown / SMEI / Caucasian (Italian) / 13
c.580G>A / Exon 4 / Missense / DIS3 / p.Asp194Asn / De novo / SMEB / Caucasian (European) / 7
80 / c.580G>C / Exon 4 / Missense / DIS3 / p.Asp194Asn / Unknown / SMEI / Not Specified / 4
81 / c.581A>G / Exon 4 / Missense / DIS3 / p.Asp194Gly / Unknown / SMEI / Caucasian (French or European) / 3
82 / c.596C>G / Exon 4 / Missense / DIS3 / p.Thr199Arg / De novo / SMEB / Caucasian (European) / 7
83 / c.606C>A / Exon 5 / Nonsense / DIS3-S4 / p.Tyr202* / De novo / SMEI / Asian (Japanese) / 6
84 / c.635T>C / Exon 5 / Missense / DIS3-S4 / p.Val212Ala / Unknown / SMEI / Asian (Japanese) / 27
85 / c.650C>A / Exon 5 / Missense / DIS4 / p.Thr217Lys / De novo / SMEI / Caucasian (Italian) / 13
86 / c.652T>C / Exon 5 / Missense / DIS4 / p.Phe218Leu / Inherited / SMEI / Caucasian (UK, British Population) / 16
c.652T>C / Exon 5 / Missense / DIS4 / p.Phe218Leu / Inherited / GEFS+ / Caucasian (UK, British Population) / 29
87 / c.657_658delAG / Exon 5 / Frameshift / DIS4 / p.Ser219fs*275 / De novo / SMEI / Caucasian (Belgian) / 30
88 / c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Belgian) / 30
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEB / Caucasian (European) / 7
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (French or Italian) / 12
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / Unknown / SMEI / Caucasian (French or Italian) / 12
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Australian) / 31
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Australian) / 31
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / GEFS+ / Caucasian (Italian) / 17
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Italian) / 13
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Italian) / 13
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (Italian) / 13
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Asian (Japanese) / 22
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Caucasian (French or European) / 3
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Asian (Japanese) / 6
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / Unknown / ICEGTC / Asian (Japanese) / 6
c.664C>T / Exon 5 / Nonsense / DIS4 / p.Arg222* / De novo / SMEI / Asian (Japanese) / 6
89 / c.668C>A / Exon 5 / Missense / DIS4 / p.Ala223Glu / De novo / SMEI / Caucasian (French or European) / 3
90 / c.677C>A / Exon 5 / Missense / DIS4 / p.Thr226Lys / Unknown / SMEI / Caucasian (UK, British Population) / 16
91 / c.677C>T / Exon 5 / Missense / DIS4 / p.Thr226Met / De novo / SMEB / Caucasian (European) / 7
c.677C>T / Exon 5 / Missense / DIS4 / p.Thr226Met / De novo / SMEB / Caucasian (European) / 7
c.677C>T / Exon 5 / Missense / DIS4 / p.Thr226Met / De novo / CGE / Caucasian (European) / 7
92 / c.677C>G / Exon 5 / Missense / DIS4 / p.Thr226Arg / De novo / SMEI / Asian (Japanese) / 6
93 / c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (French or Italian) / 12
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (French or Italian) / 12
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (French or Italian) / 12
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (Italian) / 13
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (Italian) / 13
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / Unknown / SMEB / Caucasian (European) / 7
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (French or European) / 3
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / De novo / SMEI / Caucasian (French or European) / 3
c.680T>G / Exon 5 / Missense / DIS4 / p.Ile227Ser / Unknown / SMEB / Asian (Japanese) / 6
94 / c.680T>C / Exon 5 / Missense / DIS4 / p.Ile227Thr / De novo / SMEI / Not Specified / 4
c.680T>C / Exon 5 / Missense / DIS4 / p.Ile227Thr / De novo / SMEI / Not Specified / 4
95 / c.694G>A / Exon 5 / Missense / DIS4 / p.Gly232Ser / Unknown / SMEI / Caucasian (French or European) / 3
96 / c.697_698del / Exon 6 / Frameshift / DIS4 / p.Leu233fs*275 / De novo / SMEI / Caucasian (Italian) / 18
97 / c.698T>G / Exon 6 / Missense / DIS4 / p.Leu233Arg / De novo / SMEI / Not Specified / 4
98 / c.715G>A / Exon 6 / Missense / DIS4-S5 / p.Ala239Thr / Inherited (Paternal) / SMEB / Caucasian (European) / 7
c.715G>A / Exon 6 / Missense / DIS4-S5 / p.Ala239Thr / De novo / SMEI / Asian (Chinese) / 19
c.715G>A / Exon 6 / Missense / DIS4-S5 / p.Ala239Thr / De novo / SMEI / Asian (Chinese) / 20
99 / c.716C>T / Exon 6 / Missense / DIS4-S5 / p.Ala239Val / De novo / SMEI / Caucasian (Roman) / 32
100 / c.728C>A / Exon 6 / Missense / DIS4-S5 / p.Ser243Tyr / De novo / SMEI / Caucasian (French or European) / 3
101 / c.730G>T / Exon 6 / Missense / DIS4-S5 / p.Val244Leu / Inherited (Maternal) / SMEI / Asian (Japanese) / 33
c.730G>T / Exon 6 / Missense / DIS4-S5 / p.Val244Leu / Inherited (Maternal) / SMEI / Asian (Japanese) / 33
102 / c.731_732delTG / Exon 6 / Frameshift / DIS4-S5 / p.V244fs*275 / De novo / SMEI / Not Specified / 11
103 / c.735_736delGAinsTT / Exon 6 / Nonsense / DIS4-S5 / p.Lys246* / Inherited (Maternal) / SMEI / Asian (Japanese) / 33
c.735_736delGAinsTT / Exon 6 / Nonsense / DIS4-S5 / p.Lys246* / Inherited (Maternal) / SMEI / Asian (Japanese) / 33
104 / c.755T>A / Exon 6 / Missense / DIS5 / p.Ile252Asn / De novo / SMEI / Caucasian (Belgian) / 8
105 / c.756C>G / Exon 6 / Missense / DIS5 / p.Ile252Met / Unknown / ICEGTC / Asian (Japanese) / 6
106 / c.761C>T / Exon 6 / Missense / DIS5 / p.Thr254Ile / Unknown / FS+ / Not Specified / 4
107 / c.777C>A / Exon 6 / Missense / DIS5 / p.Ser259Arg / De novo / SMEI / Asian (Chinese) / 20
c.777C>A / Exon 6 / Missense / DIS5 / p.Ser259Arg / Unknown / SMEI / Asian (Japanese) / 6
108 / c.777_780delCGTA / Exon 6 / Frameshift / DIS5 / p.Val260fs*262 / Unknown / SMEI / Caucasian (French or European) / 3
109 / c.787delC / Exon 6 / Nonsense / DIS5 / p.Lys263* / De novo / SMEI / Not Specified / 4
110 / c.793G>T / Exon 6 / Missense / DIS5 / p.Gly265Trp / De novo / SMEI / Asian (Japanese) / 24
111 / c.799C>T / Exon 6 / Nonsense / DIS5 / p.Gln267* / De novo / SMEI / Asian (Japanese) / 6
112 / c.829T>C / Exon 6 / Missense / DIS5-S6 / p.Cys277Arg / De novo / SMEI / Caucasian (French or European) / 3
113 / c.835C>T / Exon 6 / Nonsense / DIS5-S6 / p.Gln279* / De novo / SMEB / Not Specified / 4
c.835C>T / Exon 6 / Nonsense / DIS5-S6 / p.Gln279* / De novo / SMEB / Not Specified / 4
114 / c.838T>C / Exon 6 / Missense / DIS5-S6 / p.Trp280Arg / De novo / SMEI / Caucasian (French or Italian) / 12
c.838T>C / Exon 6 / Missense / DIS5-S6 / p.Trp280Arg / De novo / SMEI / Caucasian (Italian) / 13
c.838T>C / Exon 6 / Missense / DIS5-S6 / p.Trp280Arg / Unknown / SMEI / Asian (Japanese) / 6
115 / c.840G>T / Exon 6 / Missense / DIS5-S6 / p.Trp280Cys / De novo / SMEI / Asian (Japanese) / 34
c.840G>T / Exon 6 / Missense / DIS5-S6 / p.Trp280Cys / De novo / SMEI / Asian (Japanese) / 34
116 / c.841C>T / Exon 6 / Missense / DIS5-S6 / p.Pro281Ser / Unknown / SMEI / Caucasian (French or European) / 3
117 / c.841C>G / Exon 6 / Missense / DIS5-S6 / p.Pro281Ala / Unknown / SMEI / Asian (Japanese) / 6
118 / c.842C>T / Exon 6 / Missense / DIS5-S6 / p.Pro281Leu / De novo / SMEI / Caucasian (French or European) / 3
119 / c.853T_856delCTTC / Exon 6 / Frameshift / DIS5-S6 / p.Ala285fs*290 / De novo / SMEI / Caucasian (French or Italian) / 12
c.853T_856delCTTC / Exon 6 / Frameshift / DIS5-S6 / p.Ala285fs*290 / De novo / SMEI / Caucasian (Italian) / 13
120 / c.865G>C / Exon 6 / Nonsense / DIS5-S6 / p.Glu289* / Inherited (Maternal) / SMEI / Caucasian (French or Italian) / 12
c.865G>C / Exon 6 / Nonsense / DIS5-S6 / p.Glu289* / Inherited (Maternal) / SMEI / Caucasian (Italian) / 13
121 / c.865G>A / Exon 6 / Nonsense / DIS5-S6 / p.Glu289* / De novo / SMEI / Caucasian (Italian) / 17
122 / c.869A>G / Exon 6 / Missense / DIS5-S6 / p.His290Arg / Unknown / ICEGTC / Asian (Japanese) / 6
123 / c.871A>G / Exon 6 / Missense / DIS5-S6 / p.Ser291Gly / Unknown / GEFS+ / Not Specified / 4
124 / c.890C>T / Exon 6 / Missense / DIS5-S6 / p.Thr297Ile / Inherited (Maternal) / SMEI / Caucasian (French or Italian) / 12
c.890C>T / Exon 6 / Missense / DIS5-S6 / p.Thr297Ile / Inherited (Maternal) / SMEI / Caucasian (Italian) / 13
125 / c.893_894delTG / Exon 6 / Frameshift / DIS5-S6 / p.Val298fs*300 / Unknown / SMEI / Not Specified / 4
c.893_894delTG / Exon 6 / Frameshift / DIS5-S6 / p.Val298fs*300 / Unknown / SMEI / Caucasian (Italian) / 18
126 / c.917delA / Exon 6 / Frameshift / DIS5-S6 / p.Asn306fs*331 / Unknown / ICEGTC / Asian (Japanese) / 6
127 / c.931G>T / Exon 6 / Nonsense / DIS5-S6 / p.Glu311* / De novo / ICEGTC / Caucasian (Italian) / 17
128 / c.940T>C / Exon 6 / Missense / DIS5-S6 / p.Trp314Arg / Inherited (Maternal) / MAE / Not Specified / 4
129 / c.962C>G / Exon 6 / Nonsense / DIS5-S6 / p.Ser321* / De novo / SMEI / Caucasian (French or European) / 3
130 / c.965G>T / Exon 7 / Missense / DIS5-S6 / p.Arg322Ile / Unknown / SMEI / Not Specified / 11
c.965G>T / Exon 7 / Missense / DIS5-S6 / p.Arg322Ile / Unknown (Mother negative) / SMEI / Caucasian (French or European) / 3
131 / c.965-?_1377 + ?del / Exon 7–9 / Partial gene deletion / / / p.Arg322fs*347 / De novo / SMEB / Caucasian (French or European) / 3
132 / c.969 T>A / Exon 7 / Nonsense / DIS5-S6 / p.Tyr323* / De novo / SMEI / Caucasian (Italian) / 13
133 / del SCN1A exon 7-26 / Exon 7-26 / Partial gene deletion / / / / / Unknown / SMEI / Caucasian(Australia, France or Italy) / 14
134 / c.992delT / Exon 7 / Frameshift / DIS5-S6 / p.Leu331fs* 332 / De novo / SMEB / Not Specified / 4
c.992delT / Exon 7 / Frameshift / DIS5-S6 / p.Leu331fs*332 / Unknown / SMEI / Caucasian (UK, British Polpulation) / 16
135 / c.992insT / Exon 7 / Frameshift / DIS5-S6 / p.Leu331fs*339 / De novo / SMEI / Caucasian (Italian) / 13
136 / c.1019C>T / Exon 7 / Missense / DIS5-S6 / p.Ser340Phe / Unknown / SMEI / Caucasian (French or European) / 3
137 / c.1025C>T / Exon 7 / Missense / DIS5-S6 / p.Ala342Val / De novo / SMEI / Not Specified / 4
138 / c.1028G>A / Exon 7 / Missense / DIS5-S6 / p.Gly343Glu / Unknown / SMEI / Asian (Japanese) / 24
c.1028G>A / Exon 7 / Missense / DIS5-S6 / p.Gly343Glu / De novo / SMEI / Caucasian (French or European) / 3
139 / c.1033T>C / Exon 8 / Missense / DIS5-S6 / p.Cys345Arg / De novo / SMEI / Caucasian (French or European) / 3
140 / c.1035T>A / Exon 8 / Nonsense / DIS5-S6 / p.Cys345* / De novo / SMEI / Not Specified / 4
141 / c.1042G>T / Exon 8 / Nonsense / DIS5-S6 / p.Gly348* / De novo / SMEI / Caucasian (Italian) / 13
142 / c.1048_1049delAT / Exon 8 / Frameshift / DIS5-S6 / p.Met350fs*355 / De novo / SMEI / Caucasian (European) / 7
143 / c.1053T>G / Exon 8 / Missense / DIS5-S6 / p.Cys351Trp / De novo / SMEI / Not Specified / 4
144 / c.1053T>A / Exon 8 / Nonsense / DIS5-S6 / p.Cys351* / Unknown / SMEI / Asian (Chinese) / 25
145 / c.1055_1056delTG / Exon 8 / Frameshift / DIS5-S6 / p.Val352fs*355 / De novo / SMEI / Caucasian (European) / 7
146 / c.1055_1056dupTG / Exon 8 / Frameshift / DIS5-S6 / p.Lys353fs*354 / De novo / SMEI / Not Specified / 4
147 / c.1064G>A / Exon 8 / Missense / DIS5-S6 / p.Gly355Asp / Unknown / SMEI / Caucasian (French or European) / 3
148 / c.1066A>G / Exon 8 / Missense / DIS5-S6 / p.Arg356Gly / Inherited / SMEB / Not Specified / 11
149 / c.1070A>T / Exon 8 / Missense / DIS5-S6 / p.Asn357Ile / De novo / SMEI / Caucasian (French or European) / 3
150 / c.1072C>A / Exon 8 / Missense / DIS5-S6 / p.Pro358Thr / Unknown / SMEB / Not Specified / 11
151 / c.1076A>G / Exon 8 / Missense / DIS5-S6 / p.Asn359Ser / De novo / SMEI / Not Specified / 4
152 / c.1076delA / Exon 8 / Frameshift / DIS5-S6 / p.Asn359fs*378 / Unknown / SMEI / Asian (Japanese) / 6
153 / c.1087A>C / Exon 8 / Missense / DIS5-S6 / p.Thr363Pro / Unknown / SMEI / Asian (Japanese) / 6
154 / c.1088C>G / Exon 8 / Missense / DIS5-S6 / p.Thr363Arg / Unknown / SMEI / Not Specified / 4
155 / c.1090delA / Exon 8 / Frameshift / DIS5-S6 / p.Ser364fs*378 / De novo / SMEI / Not Specified / 4
156 / c.1095dupT / Exon 8 / Nonsense / DIS5-S6 / p.Asp366* / De novo / SMEI / Caucasian (French or European) / 3
157 / c.1098T>A / Exon 8 / Missense / DIS5-S6 / p.Asp366Glu / De novo / GEFS+ / Caucasian (Italian) / 10
158 / c.1121delC / Exon 8 / Frameshift / DIS5-S6 / p.Ser374fs*378 / De novo / SMEI / Caucasian (French or Italian) / 12
c.1121delC / Exon 8 / Frameshift / DIS5-S6 / p.Ser374fs*378 / De novo / SMEI / Caucasian (Italian) / 13
159 / c.1129C>T / Exon 8 / Nonsense / DIS5-S6 / p.Arg377* / De novo / SMEI / Caucasian (Italian) / 13
c.1129C>T / Exon 8 / Nonsense / DIS5-S6 / p.Arg377* / De novo / SMEI / Caucasian (French or European) / 3
c.1129C>T / Exon 8 / Nonsense / DIS5-S6 / p.Arg377* / De novo / SMEI / Caucasian (French or European) / 3
c.1129C>T / Exon 8 / Nonsense / DIS5-S6 / p.Arg377* / De novo / SMEI / Caucasian (French or European) / 3
c.1129C>T / Exon 8 / Nonsense / DIS5-S6 / p.Arg377* / De novo / SMEI / Asian (Japanese) / 6
160 / c.1130G>T / Exon 8 / Missense / DIS5-S6 / p.Arg377Leu / Unknown / SMEI / Asian (Japanese) / 27
161 / c.1130G>A / Exon 8 / Missense / DIS5-S6 / p.Arg377Gln / Inherited (Maternal) / GEFS+ / Caucasian (Italian) / 10
162 / c.1133T>A / Exon 8 / Missense / DIS5-S6 / p.Leu378Gln / Unknown / SMEI / Caucasian (French or European) / 3
163 / c.1149C>G / Exon 8 / Missense / DIS5-S6 / p.Phe383Asp / De novo / SMEI / Caucasian (Italian) / 13
164 / c.1150T>C / Exon 8 / Missense / DIS5-S6 / p.Trp384Arg / De novo / SMEI / Not Specified / 4
c.1150T>C / Exon 8 / Missense / DIS5-S6 / p.Trp384Arg / De novo / SMEB / Asian (Japanese) / 6
c.1150T>C / Exon 8 / Missense / DIS5-S6 / p.Trp384Arg / Unknown / SMEI / Asian (Japanese) / 6
165 / c.1152G>A / Exon 8 / Nonsense / DIS5-S6 / p.Try384* / Unknown / SMEB / Caucasian(Australian or Kiwi) / 35
c.1152G>A / Exon 8 / Nonsense / DIS5-S6 / p.Try384* / Unknown / SMEB / Caucasian (European) / 7
166 / c.1154A>G / Exon 8 / Missense / DIS5-S6 / p.Glu385Gly / De novo / SMEI / Caucasian (Italian) / 18
167 / c.1162 T>C / Exon 8 / Missense / DIS5-S6 / p.Tyr388His / Inherited / GEFS+ / Caucasian (Irish) / 36
168 / c.1165C>T / Exon 8 / Nonsense / DIS5-S6 / p.Gln389* / Unknown / SMEI / Caucasian (French or Italian) / 12
c.1165C>T / Exon 8 / Nonsense / DIS5-S6 / p.Gln389* / De novo / SMEI / Caucasian (Italian) / 13
169 / dup SCN1A / Exon 8-16 / Partial gene duplication / / / / / Inherited (Maternal) / SMEI / Caucasian(Australia, France or Italy) / 14
dup SCN1A / Exon 8-16 / Partial gene duplication / / / / / Inherited (Maternal) / SMEI / Caucasian(Australia, France or Italy) / 14
170 / del SCN1A / Exon 8-26 / Partial gene deletion / / / / / Unknown / SMEI / Asian (Japanese) / 15
del SCN1A / Exon 8-26 / Partial gene deletion / / / / / De novo / SMEI / Asian (Japanese) / 6
171 / c.1119_1201 del / Exon 9 / Deletion / DIS5-S6 / p.Met400del / De novo / SMEI / Caucasian (Belgian) / 8
172 / c.1157_1158insA / Exon 9 / Frameshift / DIS5-S6 / p.Lys386fs*449 / De novo / SMEI / Asian (Japanese) / 6
173 / c.1171_1377del / Exon 9 / Partial gene deletion / / / p.Thr391_Gln459del / Unknown / SMEI / Caucasian (French or European) / 3
174 / c.1176dupA / Exon 9 / Frameshift / DIS5-S6 / p.Arg393fs*449 / Unknown / SMEI / Not Specified / 4
175 / c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / MAE / Caucasian (European) / 7
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Caucasian (Italian) / 13
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Not Specified / 11
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Caucasian (French or European) / 3
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Caucasian (French or European) / 3
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Caucasian (French or European) / 3
c.1177C>T / Exon 9 / Missense / DIS5-S6 / p.Arg393Cys / De novo / SMEI / Asian (Chinese) / 25
176 / c.1177C>A / Exon 9 / Missense / DIS5-S6 / p.Arg393Ser / De novo / SMEI / Caucasian (Italian) / 13
177 / c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / De novo / SMEI / Caucasian / 5
c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / De novo / SMEI / Caucasian / 5
c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / De novo / SMEI / Not Specified / 11
c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / De novo / SMEI / Asian (Chinese) / 20
c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / Unknown / SMEB / Asian (Japanese) / 6
c.1178G>A / Exon 9 / Missense / DIS5-S6 / p.Arg393His / Unknown / ICEGTC / Asian (Japanese) / 6
178 / c.1183G>C / Exon 9 / Missense / DIS5-S6 / p.Ala395Pro / De novo / CGE / Caucasian (European) / 7
179 / c.1183delGC ins A / Exon 9 / Frameshift / DIS5-S6 / p.Ala395fs*400 / De novo / SMEI / Asian (Chinese) / 20
180 / c.1197C>A / Exon 9 / Nonsense / DIS5-S6 / p.Tyr399* / De novo / SMEI / Caucasian (European) / 7
181 / c.1198A>G / Exon 9 / Missense / DIS6 / p.Met400Val / Biparental / SMEI / Not Specified / 4
182 / c.1200_1202del GAT / Exon 9 / Deletion / DIS6 / p.Met400del / De novo / SMEI / Caucasian (French or European) / 3
c.1200_1202del GAT / Exon 9 / Deletion / DIS6 / p.Met400del / De novo / SMEB / Asian (Japanese) / 6
183 / c.1207T>G / Exon 9 / Missense / DIS6 / p.Phe403Val / Unknown / SMEI / Not Specified / 4
184 / c.1207T>C / Exon 9 / Missense / DIS6 / p.Phe403Leu / De novo / SMEI / Caucasian(Australian or Kiwi) / 35
c.1207T>C / Exon 9 / Missense / DIS6 / p.Phe403Leu / De novo / SMEI / Caucasian (European) / 7
185 / c.1216G>T / Exon 9 / Missense / DIS6 / p.Val406Phe / Unknown / SMEI / Not Specified / 4
186 / c.1226T>G / Exon 9 / Missense / DIS6 / p.Leu409Trp / Inherited (Maternal) / SMEI / Asian (Japanese) / 6
187 / c.1234T>A / Exon 9 / Missense / DIS6 / p.Phe412Ile / De novo / GEFS+ / Arabic (Iranian) / 23