ArticleMolecular genetics and genomics : MGG2020
Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
Article in Molecular genetics and genomics : MGG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Factors associated with drug-resistant epilepsy in adults from Southern Kazakhstan.Future science OA · 2026Article
- Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.Molecular genetics & genomic medicine · 2026Article
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants.Practical laboratory medicine · 2025Article
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.Epilepsia open · 2024Review
- Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.Epilepsia open · 2023Review
- A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Scientific reports · 2023Article
- Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.Human genetics · 2023Article
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.Research square · 2023Article
- Article
- Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.Frontiers in genetics · 2021Article
- Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.Epilepsy & behavior reports · 2021Article
- Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia.Biomedicines · 2020Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
It is thought that despite highly variable phenotypic expression, 70-80% of all epileptic cases are caused by one or more genetic mutations. Next generation sequencing technologies, such as whole exome sequencing (WES), can be used in a diagnostic or research setting to identify genetic mutations which may have significant prognostic implications for patients and their families. In this study, 398 genes associated with epilepsy or recurrent seizures were stratified into tiers based on genotype-phenotype concordance, tissue gene expression, frequency of affected individuals with mutations and evidence from functional and family studies. WES was completed on 14 DNA samples (2 with known mutations in SCN1A and 12 with no known mutations) from individuals diagnosed with epilepsy using an Ion AmpliSeq approach. WES confirmed positive SCN1A mutations in two samples. In n = 5/12 samples (S-3 to -14) we identified potentially causative mutations across five different genes. S-5 was identified to have a novel missense mutation in CCM2; S-6 a novel frameshift mutation identified in ADGRV1; S-10 had a previously reported pathogenic mutation in PCDH19, whilst a novel missense mutation in PCDH19 was shown in S-12; and S-13 identified to have separate missense mutations in KCNA2 and NPRL3. The application of WES followed by a targeted variant prioritization approach allowed for the discovery of potentially causative mutations in our cohort of previously undiagnosed epilepsy patients.
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