Research progress on neurological diseases associated with SCN2A gene mutations / 中华实用儿科临床杂志

ABSTRACT

SCN2A gene encodes voltage-gated sodium channel protein Navl.2.Mutations of SCN2A gene lead to many neurological diseases,including benign epilepsy,epileptic encephalopathy and autism spectrum disorders (ASD).Most mutations of SCN2A are missense mutation,mild epilepsy might be associated with missense mutations inherited from a single parent,many nonsense and missense mutations identified in severe cases are de novo and truncated mutation.There is no absolute relationship between genotype and phenotype.Functional changes and severity of the phenotype might preliminary predict according to SCN2A mutation regions of the protein.Sodium channel blockers are good choice as first-line treatment for those early onset encephalopathy patients,but also should be individualized.