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Female restricted epilepsy with intellectual disability

Synonym(s) EFMR
Familial epilepsy and mental retardation limited to females
Prevalence -
Inheritance Unknown
Age of onset -
ICD-10 -
MeSH -
MedDRA -


Disease definition

Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance.

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