Epilepsy in females with intellectual development disorder with PCDH19 mutations (Q83899): Difference between revisions

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Latest revision as of 09:15, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1606891057
English	Epilepsy in females with intellectual development disorder with PCDH19 mutations	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.