Ontology highlight
ABSTRACT:
SUBMITTER: Al Yazidi G
PROVIDER: S-EPMC5417349 | biostudies-literature | 2017 Jan-Dec
REPOSITORIES: biostudies-literature
Al Yazidi Ghalia G Shevell Michael I MI Srour Myriam M
Child neurology open 20170101
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 <i>KCNQ2</i>, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in <i>KCNQ2</i> are also associated with a severe neonatal encep ...[more]