KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series

ConclusionKCNQ2 ‐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.

Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Inn ‐Chi Lee, Tung‐Ming Chang, Jao‐Shwann Liang, Shuan‐Yow Li Tags: ORIGINAL ARTICLE Source Type: research