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

[32, 173]

SCN8A

12q13.13

The α-subunit of the voltage-gated sodium channel Nav1.6

[31, 174]

SCN1B

19q13.11

The β1-subunit of the voltage-gated sodium channel

[33, 175]

GABRA1

5q34

The α1-subunit of the GABAA receptor

[39, 40]

GABRB3

15q11.2-q12

The β3-subunit of the GABAA receptor

[41, 42, 176]

GABRG2

5q34

The γ2-subunit of the GABAA receptor

[177,178,179]

PCDH19

Xq22.1

Protocadherin-19(a calcium-dependent cell-adhesion molecule)

[28, 30, 31]

STXBP1

9q34.11

Syntaxin-binding protein 1

[31, 39]

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]

  1. GABAA, gamma-aminobutyric acid type A.