[Spectrum of mutations in benign familial neonatal-infantile epilepsy].

作者：Qi Zeng, Y H Zhang, Xiaolong Yang, Li Pu, J Zhang, A J Liu, Zhijian Yang, X Y Liu, Xiaojia Wu · 发表于：PubMed · 年份：2018 · DOI：10.3760/cma.j.issn.0578-1310.2018.04.006 · 被引用次数：1 · 研究领域：Genomics and Rare Diseases、Metabolism and Genetic Disorders、RNA modifications and cancer

Mutations in KCNQ2, SCN2A, and PRRT2 are genetic causes of BFNIE in Chinese families. The detection rate for gene mutations is high in BFNIE families. KCNQ2 and SCN2A mutations are common in BFNIE families. SCN2A mutations (c.2872A>G/p.M958V and c.2627A>G/p.N876S) and KCNQ2 mutation (c.958G>A/p.V320I) are novel mutations.