Concepedia

Channelopathy Mutations

Channelopathy Mutations is a class of pathogenic genetic alterations in voltage-gated sodium channel genes that disrupt normal ion conductance, leading to inherited excitability disorders of the nervous and cardiovascular systems.

1.3K

Publications

109.8K

Citations

7.8K

Authors

1.8K

Institutions

Publications per year

2017–2026

294

Parents

Publications

1.3K

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Stefan Feske, Yousang Gwack, Murali Prakriya et al. · Nature · 2006 · 2.3K citations

, , +10

An SCN9A channelopathy causes congenital inability to experience pain

James J. Cox, Frank Reimann, Adeline K. Nicholas et al. · Nature · 2006 · 1.6K citations · Full text

, , +11

Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

Richard A. Shimkets, David G. Warnock, Christopher M. Bositis et al. · Cell · 1994 · 1.3K citations

, , +15

Spectrum of Mutations in Long-QT Syndrome Genes

Igor Splawski, Jiaxiang Shen, Katherine W. Timothy et al. · Circulation · 2000 · 1.2K citations · Full text

, , +15

KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation

Yi-Han Chen, Shi-Jie Xu, Saı̈d Bendahhou et al. · Science · 2003 · 1K citations

, , +17

1–5 of 1.3K

Authors

7.8K

  1. MJ
    Michael J. Ackerman

    Mayo Clinic, United States

    49 publications · 6.3K citations

    37

    h-index

  2. SD
    Sulayman D. Dib‐Hajj

    Yale University, United States

    49 publications · 5.3K citations

    35

    h-index

  3. SG
    Stephen G. Waxman

    Yale University, United States

    50 publications · 5.1K citations

    35

    h-index

  4. AL
    Alfred L. George

    Vanderbilt University, United States

    37 publications · 4.7K citations

    30

    h-index

  5. DJ
    David J. Tester

    Mayo Clinic, United States

    35 publications · 4.6K citations

    29

    h-index

1–5 of 7.8K

Institutions

1.8K

  1. Yale University

    New Haven, United States

    44 h-index

    285 publications

    40.9K citations

  2. Mayo Clinic

    Rochester, United States

    43 h-index

    283 publications

    40.8K citations

  3. Inserm

    Paris, France

    41 h-index

    410 publications

    60.2K citations

  4. University College London

    London, United Kingdom

    35 h-index

    263 publications

    28.7K citations

  5. University of Wisconsin–Madison

    Madison, United States

    33 h-index

    157 publications

    20.1K citations

  6. Sorbonne Université

    Paris, France

    31 h-index

    211 publications

    32.4K citations

  7. Centre National de la Recherche Scientifique

    Paris, France

    31 h-index

    141 publications

    21K citations

  8. University of Michigan

    Ann Arbor, United States

    30 h-index

    161 publications

    29.4K citations

1–8 of 1.8K

Venues

  1. Journal of Neuroscience

    45 publications · 5.1K citations

    39

    h-index

  2. Circulation

    41 publications · 11.1K citations

    37

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 41 publications · 6.3K citations

    35

    h-index

  4. Neurology

    36 publications · 3.2K citations

    29

    h-index

  5. Brain

    34 publications · 3.5K citations

    28

    h-index

1–5