ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 183 papers, 2 of them syntheses that pooled it.
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Who cites it
183 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.International journal of molecular sciences · 2021Trial
- Article
- The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine.The pharmacogenomics journal · 2026Review
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Identification of a Novel homozygous Splice-Site Deletion inPakistan journal of medical sciences · 2026Article
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
- Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility.The Journal of clinical investigation · 2026Article
- Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center.Epileptic disorders : international epilepsy journal with videotape · 2026Article
- Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1.Nature communications · 2026Article
- Article
- Early-Onset and Syndromic Pediatric Epilepsy in Kazakhstan: Clinical, Molecular, and Phenotypic Spectrum.Journal of clinical medicine · 2026Article
- Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.Journal of human genetics · 2026Article
- MeCP2 dysregulation inhibits mitophagy and impairs neural development in cortical organoids.Journal of advanced research · 2026Article
- Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.Pediatric reports · 2026Article
- Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings.Human mutation · 2026Article
- Article
- Barriers to the implementation of epilepsy genetic testing and counseling guidelines.Epilepsia open · 2025Article
- Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.Developmental medicine and child neurology · 2025Article
123 more citing papers are in PubMed but not listed here.
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8 authors.
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Abstract
purposeTo assess the yield of diagnostic exome sequencing (DES) and to characterize the molecular findings in characterized and novel disease genes in patients with epilepsy.
methodsIn an unselected sample of 1,131 patients referred for DES, overall results were compared between patients with and without epilepsy. DES results were examined based on age of onset and epilepsy diagnosis.
resultsPositive/likely positive results were identified in 112/293 (38.2%) epilepsy patients compared with 210/732 (28.7%) patients without epilepsy (P = 0.004). The diagnostic yield in characterized disease genes among patients with epilepsy was 33.4% (105/314). KCNQ2, MECP2, FOXG1, IQSEC2, KMT2A, and STXBP1 were most commonly affected by de novo alterations. Patients with epileptic encephalopathies had the highest rate of positive findings (43.4%). A likely positive novel genetic etiology was proposed in 14/200 (7%) patients with epilepsy; this frequency was highest in patients with epileptic encephalopathies (17%). Three genes (COQ4, DNM1, and PURA) were initially reported as likely positive novel disease genes and were subsequently corroborated in independent peer-reviewed publications.
conclusionDES with analysis and interpretation of both characterized and novel genetic etiologies is a useful diagnostic tool in epilepsy, particularly in severe early-onset epilepsy. The reporting on novel genetic etiologies may further increase the diagnostic yield.Genet Med 18 9, 898-905.
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