Clinical and genetic analysis of Chinese patients with KCNQ2 mutation-induced neonatal/infantile epileptic disorders
10.3760/cma.j.issn.2095-428X.2019.12.006
- VernacularTitle: KCNQ2突变相关婴幼儿癫痫的临床及遗传学分析
- Author:
Han XIE
1
;
Xiaoxuan QU
;
Yuehua ZHANG
;
Yujia ZHANG
;
Weijing KONG
;
Kai GAO
;
Xiaoyan LIU
;
Ye WU
;
Yanling YANG
;
Xiru WU
;
Yuwu JIANG
Author Information
1. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
- Publication Type:Journal Article
- Keywords:
KCNQ2;
Neonatal/infantile epileptic disorders;
Sudden unexpected death in epilepsy patients;
Antiepileptic therapy
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(12):907-910
- CountryChina
- Language:Chinese
-
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 mutation was identified by the targeted next generation sequencing.
Results:Twenty-two de novo KCNQ2 missense mutations 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 epilepsy, 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 epilepsy.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.
