Brain Disorders & Therapy

Expanding the genetic spectrum in children with Drug-resistant epilepsy

Global congress on Neuroscience Psychiatry and Mental disorder

July 03, 2023 | Webinar

Kocaaga Ayca

Eskisehir City Hospital, Turkey

Scientific Tracks Abstracts: Brain Disord Ther

Abstract:

Statement of the Problem: Resistance to antiseizure drugs is an important problem in the treatment of individuals with epilepsy. Drug resistant epilepsy (DRE) occurs in about 10% to 30% of children with epilepsy. Identifying the molecular etiology of drug-resistant epilepsy is crucial for better management of epilepsy. Therefore, in the present study, we investigated the genetic causes of DRE in children, retrospectively. This study also showed the diagnostic power of WES (whole exome sequencing) and identified 19 novel gene variants in a pediatric group with DRE. Methodology & Theoretical Orientation: Forty-five children with DRE who underwent WES tests were included. Genetic examination of all patients included chromosomal analysis and clinical chromosomal microarray followed by WES. The identified variants by WES analysis were classified for pathogenicity based on the American College of Medical Genetics and Genomics guidelines and in silico protein prediction tools. Findings: The overall diagnostic yield was 55.5% (25 of 45). A total of 26 variants spanning 22 genes were identified in 25 patients. Of note, only 19 of these genes were examined as novel. Ten patients (22.2%) had a pathogenic or likely pathogenic variant. There was a trend associated with a diagnostic genetic test result in girls compared with boys in DRE (P= 0.028). Conclusion & Significance: Our findings expand the mutational spectrum of genes related to DRE. To form a specific treatment in children with DRE, the WES analysis should be included in the diagnostic algorithm because of its high diagnostic efficiency

Biography :

Ayca Kocaaga currently works at the Eskisehir City Hosiptal in Turkey. Ayca is interested in dysmorphology, neurogenetics, immunogenetics and discovery of genes in diseases with next generation sequencing technologies. She carries out studies with physicians working in many specialties in order to sign new studies in this field. She has written various reviews and book chapters to raise awareness about rare and common immunological diseases in her country. She has also published many case reports of patients with rare neurogenetic diseases.