PCDH19-related female-limited epilepsy
Alternate names[edit | edit source]
EFMR; Female restricted epilepsy with intellectual disability; Epileptic encephalopathy, early infantile, 9; EIEE9; Juberg-Hellman syndrome; PCDH19-related FLE; PCDH19-related infantile epileptic encephalopathy
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
PCDH19-related female-limited epilepsy is a rare disease.
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