Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant.

ABSTRACT:

Objective

This study presents the clinical phenotypes and genetic analysis of seven patients with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing.

Methods

The clinical data of seven children with BFIE diagnosed at the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University between December 2017 and April 2022 were retrospectively analyzed. Whole-exome sequencing was used to identify the genetic causes, and the variants were verified by Sanger sequencing in other family members.

Results

The seven patients with BFIE included two males and five females ranging in age between 3 and 7 months old. The main clinical phenotype of the seven affected children was the presence of focal or generalized tonic-clonic seizures, wh

SUBMITTER: Gu Y 

PROVIDER: S-EPMC10204721 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature