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

ABSTRACT: 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 heterozygo

SUBMITTER: Al Yazidi G 

PROVIDER: S-EPMC5417349 | biostudies-literature | 2017 Jan-Dec

REPOSITORIES: biostudies-literature