Epilepsy and Mental Retardation Restricted to Females (EFMR Syndrome) in a Child: PCDH19 Mutation with Pathogenic Heterogenous Variant C. 1720G>T

Abstract

An epilepsy with intelligence impairment, restricted to the female sex, is a rare X-linked epilepsy syndrome called EFMR syndrome. It is characterized by febrile or afebrile seizures, mainly tonic-clonic, but also absence, myoclonic, and atonic. Seizures begin in the first years of life and developmental delay and intelligence impairment of varying severity is found. Behavioral disorders with autistic traits, hyperactivity and aggressiveness are also commonly associated. This disease exclusively affects females. Male carriers are not affected despite an X-linked inheritance. The authors present the first pediatric case of a PCDH19 mutation with pathogenic heterogenous variant c. 1720G>T to date.