/developmental and epileptic encephalopathy, 9

developmental and epileptic encephalopathy, 9

Rare Disease

MONDO:0010246

Also Known As

DEE9EFMREIEE9Juberg Hellman syndromeJuberg-Hellman syndromePCDH19 early infantile epileptic encephalopathydevelopmental and epileptic encephalopathy 9developmental and epileptic encephalopathy, 9early infantile epileptic encephalopathy 9early infantile epileptic encephalopathy caused by mutation in PCDH19early infantile epileptic encephalopathy type 9early infantile female-limited epilecptic encephalopathyepileptic encephalopathy, early infantile, 9epileptic encephalopathy, early infantile, type 9familial epilepsy and intellectual disability limited to femalesfamilial epilepsy and mental retardation limited to femalesfemale restricted epilepsy with intellectual disabilityfemale restricted epilepsy with mental retardationPCDH19-related FLEPCDH19-related female-limited epilepsyPCDH19-related infantile epileptic encephalopathyepilepsy and intellectual disability limited to femalesepilepsy and mental retardation limited to femalesepilepsy, female restricted, with intellectual disabilityepilepsy, female restricted, with mental retardationepilepsy, female-restricted, with intellectual disabilityepilepsy, female-restricted, with mental retardationfemale restricted epilepsy with intellectual deficit

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.