Epilepsy in females with intellectual development disorder with PCDH19 mutations (Q83899): Difference between revisions
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13 August 2026
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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 |
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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. |
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CID11:ID_1606891057
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dki-india-ID_1606891057
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Concluído
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13 August 2026
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