developmental and epileptic encephalopathy, 9

Disease Overview

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.

Synonyms

• DEE9
• EFMR
• EIEE9
• Juberg Hellman syndrome
• Juberg-Hellman syndrome
• PCDH19 early infantile epileptic encephalopathy
• PCDH19-related FLE
• PCDH19-related female-limited epilepsy
• PCDH19-related infantile epileptic encephalopathy
• developmental and epileptic encephalopathy 9
• developmental and epileptic encephalopathy, 9
• early infantile epileptic encephalopathy 9
• early infantile epileptic encephalopathy caused by mutation in PCDH19
• early infantile epileptic encephalopathy type 9
• early infantile female-limited epilecptic encephalopathy
• epilepsy and intellectual disability limited to females
• epilepsy and mental retardation limited to females
• epilepsy, female restricted, with intellectual disability
• epilepsy, female restricted, with mental retardation
• epilepsy, female-restricted, with intellectual disability
• epilepsy, female-restricted, with mental retardation
• 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 deficit
• female restricted epilepsy with intellectual disability
• female restricted epilepsy with mental retardation