Female restricted epilepsy with intellectual disability

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Female restricted epilepsy with intellectual disability

Synonyms: EFMR | Juberg-Hellman syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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