 |
English
|
正體中文
|
简体中文
|
Items with full text/Total items : 17938/22957 (78%)
Visitors : 7393049
Online Users : 228
|
|
|
Loading...
|
Please use this identifier to cite or link to this item:
https://ir.csmu.edu.tw:8080/ir/handle/310902500/25254
|
| Title: | KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series |
| Authors: | Inn-Chi Lee;Tung-Ming Chang;Jao-Shwann Liang;Shuan-Yow Li |
| Date: | 2019-06 |
| Issue Date: | 2022-12-26T08:23:44Z (UTC)
|
| Abstract: | Background: Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy.
Methods: The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age range: 2 days to 18 years) with nonlesional epilepsy.
Results: Seven (5%) index patients had verified KCNQ2 mutations: c.387+1 G>T (splicing), c.1741 C>T (p.Arg581*), c.740 C>T p.(Ser247Leu), c.853 C>A p.(Pro285Thr), c.860 C>T p.(Thr287Ile), c.1294 C>T p.(Arg432Cys), and c.1627 G>A p.(Val543Met). We found, after their paternity had been confirmed, that three patients had de novo p.(Ser247Leu), p.(Pro285Thr), and p.(Thr287Ile) mutations and neonatal-onset epileptic encephalopathy; however, their frequent seizures remitted after they turned 6 months old. Those with the c.387+1G>T (splicing), (p.Arg581*), and p.(Val543Met) mutations presented with benign familial neonatal convulsions. In addition to their relatives, 14 patients had documented KCNQ2 mutations, and 12 (86%) had neonatal seizures. The seizures of all five patients treated with oxcarbazepine remitted.
Conclusion: KCNQ2-related epilepsy led to varied outcomes (from benign to severe) in our patients. KCNQ2 mutations accounted for 13% of patients with seizure onset before 2 months old in our study. KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal-onset epileptic encephalopathy.
Keywords: KCNQ2; childhood epilepsy; epileptic encephalopathy; phenotypes. |
| URI: | https://ir.csmu.edu.tw:8080/handle/310902500/25254 |
| Appears in Collections: | [中山醫學大學教師升等著作] 文獻
|
Files in This Item:
There are no files associated with this item.
|
All items in CSMUIR are protected by copyright, with all rights reserved.
|
