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Female restricted epilepsy with intellectual disability

Disease definition

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.


Classification level: Disorder
  • Synonym(s):
    • EFMR
    • Juberg-Hellman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: -
  • ICD-10: G40.8
  • OMIM: 300088
  • UMLS: C1848137
  • MeSH: -
  • GARD: 10806
  • MedDRA: -
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