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

Stefan Bittmann *

Department of Pediatrics, Ped Mind Institute (PMI), Hindenburgring 4, D-48599 Gronau, Germany.

Elisabeth Luchter

Department of Pediatrics, Ped Mind Institute (PMI), Hindenburgring 4, D-48599 Gronau, Germany.

Elena Moschüring-Alieva

Department of Pediatrics, Ped Mind Institute (PMI), Hindenburgring 4, D-48599 Gronau, Germany.

Lara Bittmann

Department of Pediatrics, Ped Mind Institute (PMI), Hindenburgring 4, D-48599 Gronau, Germany.

Aysel Shirinova

Department of Pediatrics, Ped Mind Institute (PMI), Hindenburgring 4, D-48599 Gronau, Germany.

*Author to whom correspondence should be addressed.


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.

Keywords: EFMR, PCDH19, children, mutation, epilepsy

How to Cite

Bittmann , S., Luchter , E., Moschüring-Alieva , E., Bittmann , L., & Shirinova , A. (2023). EFMR Syndrome: Epilepsy and Mental Retardation Restricted to Females in Childhood. Asian Journal of Pediatric Research, 13(3), 29–33. https://doi.org/10.9734/ajpr/2023/v13i3275


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