Epilepsy in females with intellectual development disorder with PCDH19 mutations (Q83899)

Epilepsy syndrome with onset during infancy and characterised by febrile or afebrile focal and/or generalised seizures, occasionally recurring in clusters or as status epilepticus. Developmental delay of various degree is a predominant feature. Autistic features may be present. Family history of epilepsy is a common occurrence. Protocadherin 19 mutations of various types (missense, truncating, frameshift, splicing) are the diagnostic hallmark.