Dravet syndrome (Q41208): Difference between revisions
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Encefalopatia epiléptica refratária que ocorre em bebês saudáveis durante o primeiro ano de vida com crises epilépticas clônicas, tônico-clônicas generalizadas e crises epilépticas unilaterais, hemiclônicas ou estado de mal epiléptico generalizado. O EEG interictal pode ser inicialmente normal, porém com o tempo a atividade de base se deteriora e aparecem paroxismos de polipontas bilaterais assimétricos focais ou multifocais, e ondas lentas. Mutações do gene do canal de sódio voltagem-dependente SCNA1 são comumente encontradas. | |||
| description / en | description / en | ||
A refractory epileptic encephalopathy occurring in otherwise healthy infants during the first year of life with clonic/tonic-clonic, generalised and unilateral seizures, hemiclonic or generalised status epilepticus. The interictal EEG may initially be normal but with time background activity deteriorates and bilateral asymmetric, focal or multifocal paroxysms of polyspike and slow-waves appear. Mutations in the voltage-gated sodium channel gene SCN1A are commonly found. | |||
Revision as of 07:16, 13 August 2026
A refractory epileptic encephalopathy occurring in otherwise healthy infants during the first year of life with clonic/tonic-clonic, generalised and unilateral seizures, hemiclonic or generalised status epilepticus. The interictal EEG may initially be normal but with time background activity deteriorates and bilateral asymmetric, focal or multifocal paroxysms of polyspike and slow-waves appear. Mutations in the voltage-gated sodium channel gene SCN1A are commonly found.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A61.11 |
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| English | Dravet syndrome |
A refractory epileptic encephalopathy occurring in otherwise healthy infants during the first year of life with clonic/tonic-clonic, generalised and unilateral seizures, hemiclonic or generalised status epilepticus. The interictal EEG may initially be normal but with time background activity deteriorates and bilateral asymmetric, focal or multifocal paroxysms of polyspike and slow-waves appear. Mutations in the voltage-gated sodium channel gene SCN1A are commonly found. |
