Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients

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dc.contributor.authorGun-Bilgic D.
dc.contributor.authorPolat M.
dc.date.accessioned2024-07-22T08:04:31Z
dc.date.available2024-07-22T08:04:31Z
dc.date.issued2022
dc.description.abstractBackground: Epilepsy is a neurological disease that is mostly caused by genetic factors. The genetic diagnosis of patients in a pediatric epilepsy cohort was provided. Methods: After phenotypic characterization, a 48-gene Next Generation Sequencing panel was performed in 110 Turkish children with epilepsy. The variants were called and annotated using the QIAGEN Ingenuity® Variant Analysis software. Results: Of those carrying pathogenic mutations, two patients had mutations in the SCN1A gene and two patients in the TSC2 gene; other patients had mutations in the SCN1B, GRIN2B, KCNQ2, PCDH19, CHRNA2, and MECP2 genes. In total, nine out of 10 patients had pathogenic variants that were not previously reported. Conclusions: The genotype-phenotype correlations of these variants were discussed by comparing the clinical find-ings with the literature. © 2022 Verlag Klinisches Labor GmbH. All rights reserved.
dc.identifier.DOI-ID10.7754/Clin.Lab.2021.210939
dc.identifier.issn14336510
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/12737
dc.language.isoEnglish
dc.publisherVerlag Klinisches Labor GmbH
dc.subjectCadherins
dc.subjectChild
dc.subjectCohort Studies
dc.subjectEpilepsy
dc.subjectGenetic Association Studies
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectMutation
dc.subjectPhenotype
dc.subjectProtocadherins
dc.subjectmethyl CpG binding protein 2
dc.subjectn methyl dextro aspartic acid receptor 2B
dc.subjectpotassium channel KCNQ2
dc.subjectsodium channel Nav1.1
dc.subjecttuberin
dc.subjectvoltage gated sodium channel beta 1 subunit
dc.subjectcadherin
dc.subjectPCDH19 protein, human
dc.subjectadolescent
dc.subjectallele
dc.subjectArticle
dc.subjectchild
dc.subjectchrna2 gene
dc.subjectcohort analysis
dc.subjectepilepsy
dc.subjectepileptic patient
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic variability
dc.subjecthigh throughput sequencing
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmotor retardation
dc.subjectpcdh19 gene
dc.subjectphenotype
dc.subjectpreschool child
dc.subjectschool child
dc.subjectepilepsy
dc.subjectgenetic association study
dc.subjectgenetics
dc.subjecthigh throughput sequencing
dc.subjectmutation
dc.titleAnalysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients
dc.typeArticle

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