Implication of genetic-dependent stage in the development of SCN8A-associated epilepsy: a case report
Yuhu Zhang
The SCN8A gene encodes the voltage-gated sodium channel NaV1.6, which is essential for neuronal excitability and action potential propagation. SCN8A variants are associated with a broad clinical spectrum, ranging from self-limiting syndromes to developmental and epileptic encephalopathies. Here, we identified a novel de novo heterozygous SCN8A variant (c.791 T > C/p.Val264Ala) in a 19-year-old female patient. This variant was absent in gnomAD and was predicted to be damaging by multiple in silic