CASK and Epileptic encephalopathy: Although haploinsufficiency of CASK gene in females might present with seizures with incomplete penetrance (~40%) (Moog, Uyanik, & Kutsche, 1993), hemizygous CASK mutations in males produces catastrophic neurodevastation and epileptic encephalopathy (Moog et al., 2015; Saitsu et al., 2012).