Article
A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.
The Turkish journal of pediatrics - 1 Jan 2019
Benetou Christina, Papailiou Stavroula, Maritsi Despoina, Anagnostopoulou Katherine, Kontos Harry, Vartzelis Georgios
Abstract excerpt
Benetou C, Papailiou S, Maritsi D, Anagnostopoulou K, Kontos H, Vartzelis G. A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy. Turk J Pediatr 2019; 61: 279-281. 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...
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