ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 60 citations in OpenAlex.
- Perinatal insults, genetic susceptibility, and the pathogenesis of neurodevelopmental disorders: from epigenetic remodeling to neural circuit dysfunction-a narrative review.Translational pediatrics · 2026Review
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- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy.Neurology. Genetics · 2026Article
- Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy.Translational pediatrics · 2026Article
- Associations between epilepsy-related polygenic risk and brain morphology in childhood.Brain : a journal of neurology · 2026Article
- SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.Epilepsia · 2025Article
- Gene therapies alleviate absence epilepsy associated withbioRxiv : the preprint server for biology · 2025Article
- National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.Journal of medical genetics · 2024Article
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- Spatial transcriptomics in focal cortical dysplasia type IIb.Acta neuropathologica communications · 2024Article
- Microduplication ofYonago acta medica · 2024Article
- Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.Epilepsia · 2024Article
- Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.Developmental medicine and child neurology · 2023Article
- Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.Epilepsia · 2022Review
- Yo GABA GABA! Convergent Mechanisms Driven by Gain-of-FunctionEpilepsy currents · 2022Article
- Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.Brain : a journal of neurology · 2022Article
- Whole-Exome Sequencing Identifies NovelFrontiers in pediatrics · 2022Article
- Article
- Genetic Testing in Pediatric Epilepsy.Indian journal of pediatrics · 2021Review
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Authors and funding
16 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeWe aimed to gain insight into frequencies of genetic variants in genes implicated in neurodevelopmental disorder with epilepsy (NDD+E) by investigating large cohorts of patients in a diagnostic setting.
methodsWe analyzed variants in NDD+E using epilepsy gene panel sequencing performed between 2013 and 2017 by two large diagnostic companies. We compared variant frequencies in 6994 panels with another 8588 recently published panels as well as exome-wide de novo variants in 1942 individuals with NDD+E and 10,937 controls.
resultsGenes with highest frequencies of ultrarare variants in NDD+E comprised SCN1A, KCNQ2, SCN2A, CDKL5, SCN8A, and STXBP1, concordant with the two other epilepsy cohorts we investigated. In only 46% of the analyzed 262 dominant and X-linked panel genes ultrarare variants in patients were reported. Among genes with contradictory evidence of association with epilepsy, CACNB4, CLCN2, EFHC1, GABRD, MAGI2, and SRPX2 showed equal frequencies in cases and controls.
conclusionWe show that improvement of panel design increased diagnostic yield over time, but panels still display genes with low or no diagnostic yield. With our data, we hope to improve current diagnostic NDD+E panel design and provide a resource of ultrarare variants in individuals with NDD+E to the community.
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