Complex epilepsy phenotype associated with chromosome 2q.24.2-2q24.3 deletion involving sodium channel gene cluster.

Abstract

The 2q chromosome region encodes the cluster of sodium channel genes important in severe childhood epilepsy phenotypes. Our case examines the extent that 2q24.3-24.3 gene deletions contribute to our patient’s complex medically refractory epilepsy and supports the use of fenfluramine and ketogenic diet as an effective treatment for these patients.