Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
Balkan Med J
; 40(1): 13-20, 2023 01 23.
Article
in En
| MEDLINE
| ID: mdl-36374051
ABSTRACT
Background:
Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy.Aims:
To determine the variations in the etiopathogenesis, treatment protocol planning, and prognosis of idiopathic generalized epilepsy using the next-generation sequencing method. StudyDesign:
A cross-sectional study.Methods:
This study included 32 patients with idiopathic generalized epilepsy. Genomic DNA was obtained from peripheral venous blood samples taken from the patients. A total of 18 genes encoding ion channel subunits that are involved in monogenic disorders and are associated with idiopathic generalized epilepsy were included. The targeted custom next-generation sequencing panel was designed to cover all coding exons and all exon/intron splice site regions of 18 genes.Results:
We detected 9 (28%) variations, including 1 likely pathogenic (a variant in the SCN1A gene) and 8 of unknown clinical significance (2 in the CLCN2 genes, GABBR2, SCN1B, SLC2A1, SLC4A10 genes, and 2 in the TBC1D24 gene).Conclusion:
Study results should be supported by functional advanced studies, with increased existing knowledge in the relevant variations.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Epilepsy, Generalized
/
Epilepsy
Type of study:
Etiology_studies
/
Guideline
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adolescent
/
Child
/
Humans
Language:
En
Journal:
Balkan Med J
Year:
2023
Document type:
Article
Affiliation country: