Epilepsy in females with intellectual development disorder with PCDH19 mutations (Q83899)
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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 |
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| default for all languages | ID_1606891057 |
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| 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. |
