Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients
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2022
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Abstract
Background: 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.
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Cadherins , Child , Cohort Studies , Epilepsy , Genetic Association Studies , High-Throughput Nucleotide Sequencing , Humans , Mutation , Phenotype , Protocadherins , methyl CpG binding protein 2 , n methyl dextro aspartic acid receptor 2B , potassium channel KCNQ2 , sodium channel Nav1.1 , tuberin , voltage gated sodium channel beta 1 subunit , cadherin , PCDH19 protein, human , adolescent , allele , Article , child , chrna2 gene , cohort analysis , epilepsy , epileptic patient , female , gene , gene mutation , genetic variability , high throughput sequencing , human , major clinical study , male , motor retardation , pcdh19 gene , phenotype , preschool child , school child , epilepsy , genetic association study , genetics , high throughput sequencing , mutation