Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.

ABSTRACT:

Background

Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis is important to treat and manage this disease.

Methods

In this study, we have recruited 43 epileptic encephalopathy patients and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES).

Results

Fourteen patients (32.6%, 14/43) had positive genetic diagnoses, including fifteen mutations in fourteen genes. The overall diagnostic yield was 32.6%. A total of 9 patients were diagnosed as pathogenic mutations, including 4

SUBMITTER: Zhang L 

PROVIDER: S-EPMC7720389 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature