Research progress on neurological diseases associated with SCN2A gene mutations

VernacularTitle:SCN2A基因突变相关神经系统疾病研究进展
Author: Rong LI ¹ ; Yue HU
Author Information

1. 400014 重庆医科大学附属儿童医院神经内科,儿童发育疾病研究教育部重点实验室,儿科学重庆市重点实验室,儿童发育重大疾病国家国际科技合作基地
Keywords: SCN2A; Epilepsy; Neurological diseases; Voltage-gated sodium channel
From: Chinese Journal of Applied Clinical Pediatrics 2018;33(11):877-880
CountryChina
Language:Chinese
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.