ArticleAmerican journal of human genetics2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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74citing papers in PubMed
7.2field-weighted citation impact, top 2% of its field
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Who cites it
74 citing papers in PubMed, 121 citations in OpenAlex.
- An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusion.Nature communications · 2022Trial
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- predNMD: prediction of nonsense-mediated mRNA decay for improved clinical variant pathogenicity classification.bioRxiv : the preprint server for biology · 2026Article
- Enhanced splicing modulation by NMA-modified antisense oligonucleotides.Nucleic acids research · 2026Article
- Alternative splicing-triggered mRNA decay informs splice-switching targets for neurodevelopmental disorders.The Journal of clinical investigation · 2026Article
- Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies.CNS drugs · 2026Review
- Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.Neurology · 2026Article
- Epileptogenesis and Epilepsy Treatment: Advances in Mechanistic Understanding, Therapeutic Approaches, and Future Perspectives.International journal of molecular sciences · 2026Review
- Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026Review
- TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.Human mutation · 2026Review
- Recent advances in the pharmacology of voltage-gated ion channels.Pharmacological reviews · 2025Review
- Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.Current neurology and neuroscience reports · 2025Review
- Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brain.Genome biology · 2025Article
- No more nonsense: evaluating poison exons as therapeutic targets in neurodevelopmental disorders.Current opinion in genetics & development · 2025Review
- Voltage-gated sodium channels in excitable cells as drug targets.Nature reviews. Drug discovery · 2025Review
- Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.JCI insight · 2025Article
- Cell-Type-Specific Splicing of Transcription Regulators andThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Dravet syndrome: novel insights intoFrontiers in neuroscience · 2025Review
- The RNA Revolution in the Central Molecular Biology Dogma Evolution.International journal of molecular sciences · 2024Review
14 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 11 institutions in 3 countries.
Gemma L CarvillDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
Krysta L EngelHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Biochemistry and Molecular Genetics, Anschutz School of Medicine, University of Colorado Denver, Denver, CO 80204, USA.
Aishwarya RamamurthyDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
J Nicholas CochranHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Jolien RooversLaboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
Hannah StambergerLaboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
Nicholas LimDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Amy L SchneiderEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Georgie HollingsworthEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Dylan H HolderHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Brigid M ReganEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
James LawlorHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Lieven LagaeDepartment of Development and Regeneration - Section Pediatric Neurology, University Hospitals KU Leuven, Leuven 3000, Belgium.
Berten CeulemansDepartment of Pediatric Neurology, University and University Hospital Antwerp, Antwerp 2610, Belgium.
E Martina BebinUniversity of Alabama at Birmingham, Birmingham, AL 35294, USA.
John NguyenDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group
Gregory S BarshHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Sarah WeckhuysenLaboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
Miriam MeislerDepartment of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
Peter De JongheLaboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
Ingrid E SchefferDepartment of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium; University of Melbourne, Royal Children's Hospital, Murdoch Children's Research Institute, Florey Institute, Melbourne, VIC 3084, Australia.
Richard M MyersHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
Heather C MeffordDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
HudsonAlpha Institute for Biotechnology · USThe University of Melbourne · AUUniversity of Antwerp · BEUniversity of Washington · USNorthwestern University · USVIB-UAntwerp Center for Molecular Neurology · BEAntwerp University Hospital · BEKU Leuven · BERoyal Children's Hospital · AUUniversity of Alabama at Birmingham · USUniversity of Michigan · US
Funding
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MGenomic Diagnosis in Children with Developmental DelayUM1HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI COOPER, GREGORY MICHAEL, MYERS, RICHARD M · 2013 to 2016
$7.5MA Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9MIntegrative interpretation of the organismal consequences of non-coding variationR01CA197139 · NCI · UNIVERSITY OF WASHINGTON · PI COOPER, GREGORY MICHAEL, SHENDURE, JAY ASHOK · 2015 to 2017
$1.9MAn epigenomic approach to identifying noncoding mutations in epilepsyR00NS089858 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CARVILL, GEMMA LOUISE · 2016 to 2018
$744kAn epigenomic approach to identifying noncoding mutations in epilepsyK99NS089858 · NINDS · UNIVERSITY OF WASHINGTON · PI CARVILL, GEMMA LOUISE · 2014 to 2015
$182kNCI NIH HHS R01 CA197139NHGRI NIH HHS U01 HG007301NHGRI NIH HHS UM1 HG007301NINDS NIH HHS K99 NS089858NINDS NIH HHS R00 NS089858NINDS NIH HHS R01 NS069605
Abstract
Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment. Sequencing approaches have identified causal genetic variants in only about 50% of individuals with DEEs.
Indexed as
AdultChildEpilepsies, MyoclonicEpilepsyExonsFemaleGenetic VariationHumansMaleMiddle AgedNAV1.1 Voltage-Gated Sodium ChannelNeurodevelopmental DisordersSodium ChannelsTranscriptomeNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, humanSodium Channelsalternative splicingDravet syndromeepilepsygenome sequencingnoncodingpoison exonSCN1Avariant interpretation
Identifiers
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.