Mutation | Exon | Type | Onset of seizures, months | Intelligence | Source |
---|---|---|---|---|---|
c.445C > T p.Pro149Ser | 1 | Missense | 17 | normal | [19] |
c.695A > G (p.Asn232Ser) | 1 | Missense | 4 | intellectual disability | [20] |
c.918C > G, p.Tyr306* | 1 | Nonsense | 20 | normal | [21] |
c.937G > A p.Glu307Lys | 1 | Missense | 70 | normal | [19] |
c.919G > A p.Glu313Lys | 1 | Missense | 32 | normal | [19] |
c.1183C > T (p.Arg395*) | 1 | Nonsense | 8 | intellectual disability | [22] |
c.1236C > A (p.Asp412Glu) | 1 | Missense | 38 | normal | This study (Patient 2) |
c.1681C > T, p.Pro561Ser | 1 | Missense | 14 | normal | [21] |
c.1765_1766delTG p.Val589CysfsX8 | 1 | Frameshift | 9 | intellectual disability | [19] |
c.2386_2387insGTCT (p.Thr796fs) | 3 | Frameshift | 36 | normal | This study (Patient 1) |
c2468delT, p.L823fs | 3 | Frameshift | 18 | intellectual disability | [23] |