Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.

ABSTRACT:

Objective

To summarize the clinical features and genetic mutation characteristics of Chinese children with KCNQ2-related epilepsy.

Methods

A cohort of children with genetically caused epilepsy was evaluated at Linyi People's Hospital from January 2017 to December 2023. After next-generation sequencing and pathogenicity analysis, we summarized the medical records and genetic testing data of the children who had KCNQ2 gene mutations.

Results

We identified 23 KCNQ2 gene mutations. 73.9% (n = 17) of the mutation sites were located in S5-S6 segments and the C-terminal region. In addition to the common phenotypes, 2 new phenotypes were identified: infantile convulsion with paroxysmal choreoathetosis (ICCA) and febrile seizure plus (FS+). Of all the cases with abnormal video

SUBMITTER: Yu X 

PROVIDER: S-EPMC11450650 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature