EFMR Syndrome: Epilepsy and Mental Retardation Restricted to Females in Childhood
Stefan Bittmann, Elisabeth Luchter, Elena Moschüring-Alieva, Lara Bittmann, Aysel Shirinova
Asian Journal of Pediatric Research · pp. 29–33 · Published 26 Aug 2023
10.9734/ajpr/2023/v13i3275Abstract
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.
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