Orphanet: Female restricted epilepsy with intellectual disability

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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.

ORPHA:101039

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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Female restricted epilepsy with intellectual disability

ORPHA:101039

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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