ArticleNeuron2018
Sodium Channel SCN3A (Na
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Article in Neuron, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
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83citing papers in PubMed
6.3field-weighted citation impact, top 3% of its field
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83 citing papers in PubMed, 162 citations in OpenAlex.
- Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids.Epilepsia · 2026Article
- Hippocampal malformation in Dravet syndrome.Epilepsia · 2026Review
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- Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes.bioRxiv : the preprint server for biology · 2026Article
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.Annals of neurology · 2026Article
- RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death.Nature communications · 2026Article
- Modulation of ion channels as emerging therapeutic targets in the treatment of diabetic neuropathy.EXCLI journal · 2026Review
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
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- Pharmacological targeting and characterization of Voltage-Gated Sodium Channels (VGSCs) expressed in the high-grade glioma microenvironment.BMC cancer · 2025Article
- Cortical versus hippocampal network dysfunction in a human brain assembloid model of epilepsy and intellectual disability.Cell reports · 2025Article
- Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.Biomedicines · 2025Review
- Rare dysfunctional SCN2A variants are associated with malformation of cortical development.Epilepsia · 2025Article
- Neuronal hyperactivity in neurons derived from individuals with gray matter heterotopia.Nature communications · 2025Article
- The Control of Cortical Folding: Multiple Mechanisms, Multiple Models.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2024Review
- Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.Journal of neurochemistry · 2024Review
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Shining a Light on Venom-Peptide Receptors: Venom Peptides as Targeted Agents for In Vivo Molecular Imaging.Toxins · 2024Review
- Making Ramón y Cajal proud: Development of cell identity and diversity in the cerebral cortex.Neuron · 2024Review
- Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.Journal of neurology · 2024Review
23 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 10 institutions in 6 countries.
Richard S SmithDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Connor J KennyDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Vijay GaneshDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Ahram JangDepartment of Pathology, Boston Children's Hospital, Boston, MA 02115, USA.
Rebeca Borges-MonroyDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Jennifer N PartlowDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
R Sean HillDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Taehwan ShinDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Allen Y ChenDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Ryan N DoanDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Anna-Kaisa AnttonenThe Folkhälsan Institute of Genetics, 00290 Helsinki, Finland; Medical and Clinical Genetics, Neuroscience Center and Research Programs Unit, Molecular Neurology, 00014, University of Helsinki, Helsinki, Finland.
Jaakko IgnatiusDepartment of Clinical Genetics, Turku University Hospital, Turku, 20521, Finland.
Livija MedneDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Carsten G BönnemannDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Jonathan L HechtDepartment of Pathology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
Oili SalonenMedical Imaging Center, Radiology, University of Helsinki and Helsinki University Hospital, 00029 HUS, Helsinki, Finland.
A James BarkovichBenioff Children's Hospital, Departments of Radiology, Pediatrics, Neurology, and Neurological Surgery, University of California San Francisco, San Francisco, CA 94117, USA.
Annapurna PoduriDepartment of Neurology, Boston Children's Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Martina WilkeDepartment of Clinical Genetics, Erasmus MC Rotterdam 3015CN, Netherlands.
Marie Claire Y de WitNeurogenetics Joint Clinic in Sophia Children's Hospital, Erasmus MC Rotterdam 3015CN, Netherlands.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus MC Rotterdam 3015CN, Netherlands.
Laszlo SztrihaDepartment of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
Kiho ImDivision of Newborn Medicine, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
Dina AmromNeurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital; and the Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.
Eva AndermannNeurogenetics Unit and Epilepsy Research Group, Montreal Neurological Institute and Hospital; and the Departments of Neurology & Neurosurgery and Human Genetics, McGill University, Montreal, QC H3A 2B4, Canada.
Ritva PaetauChildren's Hospital, University of Helsinki and Helsinki University Hospital, 00029 HUS, Helsinki, Finland.
Anna-Elina LehesjokiThe Folkhälsan Institute of Genetics, 00290 Helsinki, Finland; Medical and Clinical Genetics, Neuroscience Center and Research Programs Unit, Molecular Neurology, 00014, University of Helsinki, Helsinki, Finland.
Christopher A WalshDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: christopher.walsh@childrens.harvard.edu.
Maria K LehtinenDepartment of Pathology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: maria.lehtinen@childrens.harvard.edu.
Boston Children's Hospital · USUniversity of Helsinki · FIChildren's Hospital of Philadelphia · USErasmus MC · NLMontreal Neurological Institute and Hospital · CABeth Israel Deaconess Medical Center · USErasmus MC - Sophia Children’s Hospital · NLTurku University Hospital · FIUnited Arab Emirates University · AEUniversity of California, San Francisco · US
Funding
Cell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7MHUMAN EPILEPSY GENETICS--NEURONAL MIGRATION DISORDERSR01NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 1997 to 2023
$9.5MHuman Epilepsy Genetics Neuronal Migration DisordersR37NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Christopher A. Walsh · 2002 to 2026
$6.5MMouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2MRole for ion conducting proteins in cortical malformation diseasesK99NS112604 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SMITH, RICHARD S · 2019 to 2021
$276kCerebral Cortex Malformations - Genetics and Physiological ValidationF32NS100338 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SMITH, RICHARD S · 2017 to 2019
$161kHoward Hughes Medical InstituteNICHD NIH HHS U54 HD090255NINDS NIH HHS F32 NS100338NINDS NIH HHS K99 NS112604NINDS NIH HHS R01 NS032457NINDS NIH HHS R01 NS035129NINDS NIH HHS R37 NS035129
Abstract
Channelopathies are disorders caused by abnormal ion channel function in differentiated excitable tissues. We discovered a unique neurodevelopmental channelopathy resulting from pathogenic variants in SCN3A, a gene encoding the voltage-gated sodium channel Na
Indexed as
Language DevelopmentAdolescentAdultAnimalsCell MovementCells, CulturedCerebral CortexChildChild, PreschoolFemaleFerretsHEK293 CellsHumansInfantMaleMegalencephalyNAV1.3 Voltage-Gated Sodium ChannelSCN3A protein, humanSodium ChannelsCortical DevelopmentNa(V)1.1Na(V)1.3OromotorOuter Radial GliaPolymicrogyriaSCN1ASCN3ASpeechVoltage-Gated Sodium Channel (VGSC)
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