Developmental and epileptic encephalopathy, 9
Developmental and epileptic encephalopathy, 9
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.
Also known as DEE9, developmental and epileptic encephalopathy 9, developmental and epileptic encephalopathy, 9, early infantile epileptic encephalopathy caused by mutation in PCDH19, early infantile epileptic encephalopathy type 9, EFMR, EIEE9, epileptic encephalopathy, early infantile, 9, epileptic encephalopathy, early infantile, type 9, familial epilepsy and intellectual disability limited to females, familial epilepsy and mental retardation limited to females, female restricted epilepsy with intellectual disability, Juberg-Hellman syndrome, PCDH19 early infantile epileptic encephalopathy — per MONDO