Proband code | Gender | Clinical classification | Age at onset, months | Exons | Mutation | Theoretical effect on the protein | Type | Transmission | Polymorphisms |
N 07 0987 | F | Clinical data unavailable | 8 | 1–23 | c.1-?_4473+?del | Absence of protein synthesis | Partial gene deletion (exon 1 to 23) | Unknown (mother negative) | |
N 06 1587 | M | Classic DR | 5 | 1–16 | c.1-?_3429+?del | Absence of protein synthesis | Partial gene deletion (exons 1 to 16) | De novo | |
18334_31416 | F | Classic DR | <6 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown | |
N 07 0770 | M | Clinical data unavailable | 2 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown | c.4476+33G→A (homozygous) |
JON_071_003 | M | Classic DR | <6 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown | |
N 08 0096 | M | Classic DR | 6 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown | |
N 07 1846 | F | Classic DR | 4.5 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown | |
N 08 0687 | M | Classic DR | 6 | 1–26 | c.1-?_6030+?del | Absence of protein synthesis | Whole gene deletion | Unknown (inherited in sibling pairs) | |
N 05 0598 | F | Classic DR | 7 | 2–21 | c.265-?_4284+?dup | p.Ala1429_Lys2009delins46X | Partial gene duplication (exon 2 to 21) | Unknown | |
N 07 0693 | F | Probable DR (age<13 months) | 9 | 7–9 | c.965-?_1377+?del | p.Arg322ThrfsX26 | Partial gene deletion (exons 7 to 9) | De novo | |
N 08 0843 | F | Classic DR | NA | 9 | c.1171-?_1377+?del | p.Thr391_Gln459del | Partial gene deletion (exon 9) | Unknown | |
N 06 1285 | F | Classic DR | 3 | 14–20 | c.2416-?_4002+?del | p.Phe807_Val1335del | Partial gene deletion (exons 14 to 20) | Unknown | |
N 07 0755 | M | Classic DR | 3 | 22–26 | c.4285-?_6030+?del | p.Ala1429_Lys2009del | Partial gene deletion (exons 22 to 26) | De novo | |
N 07 1278 | M | Classic DR | 4 | 24 | c.4477-?_4581+?del | p.Phe1493_Gly1527del | Partial gene deletion (exon 24) | Unknown |
DR, Dravet syndrome; NA, not available.
Nucleotide numbering for all mutations and polymorphisms is designated according to the cDNA reference sequence (accession number AB093548), in which the “A” of the strat codon is nucleotide 1.