A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy
Mutations in KCNQ2 gene, encoding for voltage-gated K+ channel subunit, may result in a wide spectrum of early-onset epileptic disorders. The phenotype of the disease varies from `benign familial neonatal seizures` to `severe epileptic encephalopathies`. In this report, we present a novel mutation...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hacettepe University Institute of Child Health
2019-04-01
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| coleção: | The Turkish Journal of Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://turkjpediatr.org/article/view/687 |
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