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Updated: Aug 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation
Engin Atlı1, Hakan Gürkan1, Babürhan Güldiken1
1Department of Medical Genetics, Faculty of Medicine Trakya University, Edirne, Turkey
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.
Study Design:
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.
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