Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy.

ABSTRACT:

Introduction

Genetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects. In this study, we have recruited seven families from China with neurodevelopmental abnormalities in which epilepsy was a predominant manifestation, aiming to elucidate the underlying causes and make a precise diagnosis for the cases.

Methods

Whole-exome sequencing (WES) combined with Sanger sequencing was used to identify the causative variants associated with the diseases in addition to essential imaging and biomedical examination.

Results

A gross intragenic deletion detected in MFSD8 was investigated via gap-polymerase chain reaction (PCR), real-time quantita

SUBMITTER: Mao B 

PROVIDER: S-EPMC10213446 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature