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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Autores principales:	Christina Benetou, Stavroula Papailiou, Despoina Maritsi, Katherine Anagnostopoulou, Harry Kontos, Georgios Vartzelis
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Hacettepe University Institute of Child Health 2019-04-01
Colección:	The Turkish Journal of Pediatrics
Materias:	KCNQ2 mutation drug-resistant epilepsy early-onset epileptic encephalopathy
Acceso en línea:	https://turkjpediatr.org/article/view/687
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