A novel de novo KCNQ2 mutation in a child with treatment-resistant early-onset epileptic encephalopathy

摘要

Mutations in KCNQ2 gene, encoding for voltage-gated K+ channel subunit, may result in a wide spectrum of early-onset epileptic disorders. The phenotype of the disease varies from "benign familial neonatal seizures" to "severe epileptic encephalopathies". In this report, we present a novel mutation [namely: c.683A>G (p.His228Arg)], as a presumable cause of severe infantile-onset neonatal seizures, in a 3-month old boy. The seizures have been poorly responsive to various pharmacological treatments, with phenytoin and carbamazepine presenting with the most favourable results so far. The study of our patient could help to further clarify the clinical manifestations of KCNQ2 mutations, revealing a previously unreported mutation.