The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

Abstract

The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical feature in sporadic cases. IQSEC2 should be evaluated in both male and female patients with an epileptic encephalopathy.