Cargando…
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
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 protoc...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874255/ https://www.ncbi.nlm.nih.gov/pubmed/36374051 http://dx.doi.org/10.4274/balkanmedj.galenos.2022.2022-7-55 |
_version_ | 1784877768183382016 |
---|---|
author | Atlı, Engin Gürkan, Hakan Güldiken, Babürhan Eker, Damla Yalçıntepe, Sinem Demir, Selma Atlı, Emine İkbal |
author_facet | Atlı, Engin Gürkan, Hakan Güldiken, Babürhan Eker, Damla Yalçıntepe, Sinem Demir, Selma Atlı, Emine İkbal |
author_sort | Atlı, Engin |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9874255 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-98742552023-02-02 Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique Atlı, Engin Gürkan, Hakan Güldiken, Babürhan Eker, Damla Yalçıntepe, Sinem Demir, Selma Atlı, Emine İkbal Balkan Med J Original Article 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. Galenos Publishing 2023-01-23 /pmc/articles/PMC9874255/ /pubmed/36374051 http://dx.doi.org/10.4274/balkanmedj.galenos.2022.2022-7-55 Text en ©Copyright 2023 by Trakya University Faculty of Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Balkan Medical Journal published by Galenos Publishing House. |
spellingShingle | Original Article Atlı, Engin Gürkan, Hakan Güldiken, Babürhan Eker, Damla Yalçıntepe, Sinem Demir, Selma Atlı, Emine İkbal Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title | Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title_full | Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title_fullStr | Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title_full_unstemmed | Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title_short | Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique |
title_sort | investigation of the genetic etiology in idiopathic generalized epileptic disorders by targeted next-generation sequencing technique |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9874255/ https://www.ncbi.nlm.nih.gov/pubmed/36374051 http://dx.doi.org/10.4274/balkanmedj.galenos.2022.2022-7-55 |
work_keys_str_mv | AT atlıengin investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT gurkanhakan investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT guldikenbaburhan investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT ekerdamla investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT yalcıntepesinem investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT demirselma investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique AT atlıemineikbal investigationofthegeneticetiologyinidiopathicgeneralizedepilepticdisordersbytargetednextgenerationsequencingtechnique |