ArticleScience advances2026
A neurocutaneous Na
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In one paragraph
Article in Science advances, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
41 authors.
Suguru YamauchiDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-5418-7112
Jolien Vander CruyssenMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-2625-0046
Michele CervelleraTissue Engineering and Biomaterials Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0009-0005-1841-6965
Elizabeth WohlerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jolien De WaeleMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0003-0674-4521
Maxime LammensMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-2690-9955
Corinne BoehmMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Nara L SobreiraMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Carley BlevinsDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Kaitlyn EcoffDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0009-0009-9946-6698
Yuping MeiDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0001-7391-0134
Margaux TheysMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-0058-104X
Ife ShoyomboDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Maria ShishikuraInstitute of Science, Tokyo, Japan.ORCID 0000-0002-7305-5358
Hongrui YiWhiting School of Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-4297-1043
Kristen RodgersDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-4302-9578
Beverly LeeDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-7661-1014
Hamza KhanDepartment of Vascular Surgery, Deborah Heart and Lung Center, Brown Mills, NJ, USA.
Andrei GurauDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-4610-721X
Wasay NizamDepartment of Surgery, Allegheny Health Network Cancer Institute, Pittsburgh, PA, USA.
Shivani ShirodkarDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0009-0008-4836-9583
Christine KimDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Joshua ChoiDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Daniel ColemanDepartment of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.
Brooke DormanChicago College of Osteopathic Medicine, Downers Grove, IL, USA.
Takumi IwasawaInstitute of Life Innovation Studies, Toyo University, Tokyo, Japan.ORCID 0009-0008-9278-6464
Jin U KangWhiting School of Engineering, Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0001-5817-1935
Yves HeremansVisual and Spatial Tissue Analysis (VSTA) core facility and Beta Cell Neogenesis Research Group (BENE), Genetics Reproduction and Development (GRAD), Faculty of Medicine and Pharmaceutical Sciences, Vrije Universiteit Brussel, Jette, Belgium.
Hajime OritaDepartment of Esophageal and Gastroenterological Surgery, Faculty of Medicine, Juntendo University, Tokyo, Japan.ORCID 0000-0002-8263-7069
Tetsu FukunagaDepartment of Esophageal and Gastroenterological Surgery, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Filip Van PetegemDepartment of Biochemistry and Molecular Biology, Life Sciences Centre, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0003-2728-8537
Stephen B BaylinCancer Genetics and Epigenetics, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, Baltimore, MD, USA.ORCID 0000-0003-3697-3798
Andreas S BarthDepartment of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Tae Hwan ChungDepartment of Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-0270-5181
Peter C RoweDivision of Adolescent and Young Adult Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-3586-2677
Glenn TreismanDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jinny HaDivision of Thoracic Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ruslan I DmitrievTissue Engineering and Biomaterials Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-0347-8718
David ValleMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0002-6560-4281
Frank BosmansMolecular Physiology and Neurophysics Group, Department of Basic and Applied Medical Sciences, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-0451-6050
Malcolm V BrockDepartment of Surgery, The Sidney Kimmel Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID 0000-0003-2961-851X
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MClinical and Laboratory Research Training for Surgical OncologistsT32CA126607 · NCI · JOHNS HOPKINS UNIVERSITY · PI CAMERON, ANDREW M. · 2008 to 2024
$6.0MSodium channel mutations as a possible cause for primary dysautonomiaR01NS126398 · NINDS · JOHNS HOPKINS UNIVERSITY · PI MALCOLM V BROCK · 2023 to 2026
$1.9MNCI NIH HHS T32 CA126607NHGRI NIH HHS UM1 HG006542NINDS NIH HHS R01 NS126398
Abstract
Primary idiopathic hyperhidrosis (PIH) is a poorly understood disorder characterized by excessive sweating. We identify a genetically defined subset of PIH associated with rare coding changes in voltage-gated Na
Indexed as
ChannelopathiesHyperhidrosisNAV1.8 Voltage-Gated Sodium ChannelAnimalsDisease Models, AnimalFemaleGanglia, SympatheticGene Knock-In TechniquesHumansMaleMiceNAV1.8 Voltage-Gated Sodium ChannelSCN10A protein, humanScn10a protein, mouse
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
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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 Socratic graph.