EFMR Syndrome: Epilepsy and Mental Retardation Restricted to Females in Childhood

Abstract

Epilepsy with intelligence impairment, restricted to the female sex, is a rare X-linked epilepsy syndrome. It is characterized by febrile or afebrile seizures, mainly tonic-clonic, but also absence, myoclonic, and atonic beginning in the first years of life. In most cases, developmental delay and intelligence impairment of varying severity is present. Behavioral disorders, autistic traits, hyperactivity, and aggressiveness are commonly associated. This disease exclusively affects females. Male carriers are not affected despite an X-linked inheritance.