Epilepsy: clinical implications of recent advances

Abstract

Recent research has focused on several areas that affect diagnosis, treatment, and management of patients with epilepsy. In 2012, there were advances in our understanding of the genetic underpinnings of the disease; for example, candidate gene testing revealed a previously underappreciated cause of severe neonatal-onset epileptic encephalopathy: mutations in KCNQ2, a gene that encodes the voltage-gated potassium channel Kv7.2. KCNQ2 mutations are typically associated with the mild, self-limited syndrome benign familial neonatal-infantile seizures (BFNIS).