Epilepsy and Mental Retardation in Females: Unusual Inheritance

The disorder of epilepsy and mental retardation in females provides a new twist to understanding the mechanism of inheriting genes on the X chromosome.

Epilepsy and mental retardation limited to females (EFMR) is a disorder characterized by convulsions in infancy, mental retardation, and intellectual disability. This disorder has a poorly understood mode of inheritance, whereby seemingly unaffected males transmit it to their daughters. These authors describe the clinical, electrophysiologic, and genetic characteristics of four unrelated families with histories suggestive of EFMR. From 58 family members who provided data, the authors analyzed findings from seizure histories, neurologic examinations, medical records, neuroimaging studies, intelligence assessments, and genetic linkage studies.

Information from 27 affected females showed that, on average, seizures began at age 14 months and end…

Reviewing Author

Autumn Klein, MD, PhD