Duplication of 2q23.3-2q31.2: A Sodium Channel Epilepsy Syndrome Responsive to Phenytoin - Abstract
Duplication of the 2q24.3 region containing the SCN sodium channel genes has recently been described as a cause of neonatal epilepsy. Here we describe a patient with duplication of 2q23.3-2q31.2 who presented with neonatal epilepsy, developmental delay and associated congenital anomalies (dysmorphic features, horseshoe kidney, small VSD and right ventricle hypertrophy, and mild brain anomalies). After multiple daily seizures despite treatment with phenobarbital, levetiracetam, and topiramate, initiation of phenytoin led to cessation of seizures. This case highlights the efficacy of anti-epileptic medications that act on sodium channels in patients with neonatal epilepsy due to 2q24.3 duplication, as well as the importance of screening for associated congenital anomalies in such patients.