The SCN1A gene encodes the apha-1 subunit (NaV1.1) of the voltage-gated sodium channel, which is critical for the functioning of GABAergic interneurons, and dysfunction causes neuronal hyperexcitability. SCN1A is polymorphic, with over 1500 different variants identified. Most disease-causing variants are heterozygous loss-of-function (LOF) variants that arise de novo [1–3].
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