Epilepsy in females with intellectual development disorder with PCDH19 mutations (Q83899): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Síndrome epiléptica com início na primeira infância e caracterizada por convulsões febris ou afebris focais e/ou generalizadas, ocasionalmente recorrendo em salvas ou como status epilepticus. Vários estágios de atraso no desenvolvimento é uma característica predominante. Manifestações de autismo podem estar presentes. História familiar de epilepsia é comum. Mutações da protocaderina 19 de vários tipos (missense, truncamento, frameshift, splicing) são a características do diagnóstico. | |||
| description / en | description / en | ||
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. | |||
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. |
