Genetic Diagnosis in Children with Epilepsy and Developmental Disorders by Targeted Gene Panel Analysis in a Developing Country.

ABSTRACT:

Background and purpose

In childhood epilepsy, genetic etiology is increasingly recognized in recent years with the advent of next generation sequencing. This has broadened the scope of precision medicine in intractable epilepsy, particularly epileptic encephalopathy (EE). Developmental disorder (DD) is an integral part of childhood uncontrolled epilepsy. This study was performed to investigate the genetic etiology of childhood epilepsy and DD.

Methods

In this study, 40 children with epilepsy and DD with positive genetic mutation were included retrospectively. It was done in a tertiary care referral hospital of Bangladesh from January 2019 to December 2020. Genetic study was done by next generation sequencing. In all cases electroencephalography, neuroimaging was done and rev

SUBMITTER: Rahman MM 

PROVIDER: S-EPMC8357555 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature