A rare case of Yhwag gene mutation causing developmental and epileptic encephalopathy

Abstract

Background: epileptic encephalopathy 56 or DEE is a rare disease characterized by early-onset treatment-refractory epilepsy accompanied by global developmental regression that has been shown to be caused by various mutations of the YWHAG gene. Case presentation: We report a novel of a heterozygous mutation of YHWAG c.170G>A, p.(Arg57His), in a Caucasian male. Conclusions: Our report further confirms that mutation of YWHAG results in developmental and epileptic encephalopathy.

Keywords

• YWHAG
• developmental and epileptic encephalopathy
• neurocognitive disorder
• autistic spectrum disorder
• polymorphic seizures
• Arnold-Chiari malformation type I