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...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Christina Benetou, Stavroula Papailiou, Despoina Maritsi, Katherine Anagnostopoulou, Harry Kontos, Georgios Vartzelis
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Hacettepe University Institute of Child Health 2019-04-01
Schriftenreihe:	The Turkish Journal of Pediatrics
Schlagworte:	KCNQ2 mutation drug-resistant epilepsy early-onset epileptic encephalopathy
Online-Zugang:	https://turkjpediatr.org/article/view/687
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