[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].

ABSTRACT:

Objectives

To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.

Methods

The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.

Results

The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed f

SUBMITTER: Lai CY 

PROVIDER: S-EPMC9154364 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature