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Clinical and genetic analysis of Chinese patients with KCNQ2 mutation-induced neonatal/infantile epileptic disorders / 中华实用儿科临床杂志
Article em Zh | WPRIM | ID: wpr-752324
Biblioteca responsável: WPRO
ABSTRACT
Objective To reveal the clinical and genetic features of neonatal/infantile epileptic disorders caused by KCNQ2 mutations and to provide a clue for the treatment and prognosis evaluation. Methods Twenty-two patients were collected in the Department of Pediatrics,Peking University First Hospital from April 2007 to July 2016. The phenotype-genotype analysis was conducted of the neonatal/infantile epileptic patients in whom a KCNQ2 muta﹣tion was identified by the targeted next generation sequencing. Results Twenty-two de noνo KCNQ2 missense muta﹣tions from 22 patients with neonatal/infantile epileptic disorders were found. These patients had an onset of epilepsy in early infancy(median age:2 days). The seizure type of the first onset was mainly focal seizure. Atypical absence epi﹣lepsy,a novel phenotype of KCNQ2 mutation-induced epilepsies was found. The mortality of these patients was high,as 5 patients of the 22 patients died in the follow-up period,4 of which might result from sudden unexpected death in epi﹣lepsy. In the 22 patients,8 patients with anti-epileptic monotherapy became seizure-free. Of the 8 patients with a monotherapy,3 patients were treated with valproic acid and no clinical onset was observed. Conclusions This study expands the phenotype of KCNQ2-related epileptic disorders. These patients have high mortality. Valproate acid is the potentially effective monotherapy for these patients.
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Texto completo: 1 Índice: WPRIM Idioma: Zh Revista: Chinese Journal of Applied Clinical Pediatrics Ano de publicação: 2019 Tipo de documento: Article
Texto completo: 1 Índice: WPRIM Idioma: Zh Revista: Chinese Journal of Applied Clinical Pediatrics Ano de publicação: 2019 Tipo de documento: Article