Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions:

Child Neurology Open

Ghalia Al Yazidi¹ 

关键词: benign familial neonatal convulsions;    BFNC;    KCNQ2;   

DOI  :  10.1177/2329048X17691396

学科分类：儿科学

来源: Sage Journals

【 摘 要 】

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. The authors report the clinical presentations, response to medication, and intrafamilial phenotypic variability in 2 families with benign familial neonatal convulsions, carrying previously unreported heterozygous missense mutations, c.1066C>G (p.Leu356Val) and c.1721G

【 授权许可】

CC BY-NC