Concepedia

Episodic Ataxia

Episodic Ataxia is a hereditary neurological channelopathy characterized by recurrent episodes of cerebellar dysfunction manifesting as transient gait ataxia, imbalance, and coordination deficits, typically caused by mutations in ion channel genes such as *KCNA1* or *CACNA1A*.

284

Publications

19.7K

Citations

1.6K

Authors

582

Institutions

Publications per year

2017–2026

69

Parents

Publications

284

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

D.L. Browne, Stephen T. Gancher, John G. Nutt et al. · Nature Genetics · 1994 · 776 citations

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Expression of Amino-Terminally Truncated PrP in the Mouse Leading to Ataxia and Specific Cerebellar Lesions

Doron Shmerling, Ivan Hegyi, Marek Fischer et al. · Cell · 1998 · 527 citations · Full text

, , +15

Terahertz Wave Enhances Permeability of the Voltage-Gated Calcium Channel

Yangmei Li, Chao Chang, Zhi Zhu et al. · Journal of the American Chemical Society · 2021 · 457 citations

, , +17

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Andrew Escayg, Michel De Waard, David D. Lee et al. · The American Journal of Human Genetics · 2000 · 417 citations · Full text

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1–5 of 284

Authors

1.6K

  1. RW
    Robert W. Baloh

    University of California, Los Angeles, United States

    20 publications · 2.3K citations

    19

    h-index

  2. JC
    Joanna C. Jen

    University of California, Los Angeles, United States

    20 publications · 1.7K citations

    18

    h-index

  3. MG
    Michael G. Hanna

    University College London, United Kingdom

    19 publications · 1.3K citations

    17

    h-index

  4. DM
    Dimitri M. Kullmann

    University College London, United Kingdom

    15 publications · 1.1K citations

    13

    h-index

  5. MP
    Mauro Pessia

    University of Perugia, Italy

    14 publications · 727 citations

    13

    h-index

1–5 of 1.6K

Institutions

582

  1. University College London

    London, United Kingdom

    23 h-index

    192 publications

    12.4K citations

  2. University of California, Los Angeles

    Los Angeles, United States

    18 h-index

    75 publications

    6.4K citations

  3. National Hospital for Neurology and Neurosurgery

    London, United Kingdom

    16 h-index

    125 publications

    5.8K citations

  4. Inserm

    Paris, France

    12 h-index

    69 publications

    7.5K citations

  5. Oregon Health & Science University

    Portland, United States

    11 h-index

    34 publications

    8.2K citations

  6. University of Perugia

    Perugia, Italy

    10 h-index

    34 publications

    1.2K citations

  7. Hertie Institute for Clinical Brain Research

    Tübingen, Germany

    9 h-index

    39 publications

    3.1K citations

  8. Leiden University Medical Center

    Leiden, The Netherlands

    8 h-index

    29 publications

    2.3K citations

1–8 of 582

Venues

  1. Neurology

    23 publications · 2.8K citations

    19

    h-index

  2. Journal of Neuroscience

    13 publications · 1.1K citations

    12

    h-index

  3. Annals of Neurology

    10 publications · 784 citations

    10

    h-index

  4. Archives of Neurology

    9 publications · 604 citations

    9

    h-index

  5. Brain

    9 publications · 972 citations

    9

    h-index

1–5