Table 1 Genes associated with DS and DS-like phenotypes.
From: Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome
Gene | Location | Encoded proteins | Reference |
---|---|---|---|
SCN1A | 2q24.3 | The α-subunit of the voltage-gated sodium channel Nav1.1 | [5] |
SCN2A | 2q24.3 | The α-subunit of the voltage-gated sodium channel Nav1.2 | |
SCN8A | 12q13.13 | The α-subunit of the voltage-gated sodium channel Nav1.6 | |
SCN1B | 19q13.11 | The β1-subunit of the voltage-gated sodium channel | |
GABRA1 | 5q34 | The α1-subunit of the GABAA receptor | |
GABRB3 | 15q11.2-q12 | The β3-subunit of the GABAA receptor | |
GABRG2 | 5q34 | The γ2-subunit of the GABAA receptor | |
PCDH19 | Xq22.1 | Protocadherin-19(a calcium-dependent cell-adhesion molecule) | |
STXBP1 | 9q34.11 | Syntaxin-binding protein 1 | |
CHD2 | 15q26 | Chromodomain helicase DNA-binding protein 2 | [46] |
KCNA2 | 1p13.3 | Potassium voltage-gated channel subfamily A member 2 (Kv1.2). | [36] |
HCN1 | 5p12 | Hyperpolarization-activated cyclic nucleotide-gated channel 1 | [38] |
CPLX1 | 4p16.3 | Complexin 1(a presynaptic small molecule protein) | [47] |