Evidence map›Paper›PMID 27271339›Full record

ArticleNeurogenetics2016

A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.

Tiago A Mestre, Andreea Manole, Heather MacDonald, Sheila Riazi, Natalia Kraeva, Michael G Hanna, Anthony E Lang, Roope Männikkö, Grace Yoon

Abstract read
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023
    Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Paroxysmal Movement Disorders.Frontiers in neurology · 2021
    Review
  7. Review
  8. Review
  9. Clinical Spectrum ofInternational journal of molecular sciences · 2020
    Review
  10. Article
  11. Article
  12. The current status of malignant hyperthermia.Journal of biomedical research · 2019
    Article
  13. Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.Annals of clinical and translational neurology · 2018
    Review
  14. Article
  15. Review
  16. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 7 institutions in 2 countries.

Tiago A MestreMorton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.
Andreea ManoleMRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK.
Heather MacDonaldDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
Sheila RiaziMalignant Hyperthermia Investigation Unit, Toronto General Hospital, Department of Anesthesia, University of Toronto, Toronto, ON, Canada.
Natalia KraevaMalignant Hyperthermia Investigation Unit, Toronto General Hospital, Department of Anesthesia, University of Toronto, Toronto, ON, Canada.
Michael G HannaMRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK.
Anthony E LangMorton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Division of Neurology, Department of Medicine, University of Toronto, Toronto, Canada.
Roope MännikköMRC Centre for Neuromuscular Disease, Department of Molecular Neuroscience, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BT, UK. r.mannikko@ucl.ac.uk.
Grace YoonDivision of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada. grace.yoon@utoronto.ca.
National Hospital for Neurology and Neurosurgery · GBSickKids Foundation · CAMRC Prion Unit · GBOttawa Hospital · CAToronto General Hospital · CAToronto Western Hospital · CAUniversity of Toronto · CA

Funding

Medical Research Council G0601943Medical Research Council MR/K000608/1
6 · The paper itself

Abstract

Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in KCNA1, which encodes the voltage-gated potassium channel, Kv1.1. Eleven members of an EA family were evaluated with molecular and functional studies. A novel c.746T>G (p.Phe249Cys) missense mutation of KCNA1 segregated in the family members with episodic ataxia, myokymia, and malignant hyperthermia susceptibility. No mutations were found in the known malignant hyperthermia genes RYR1 or CACNA1S. The Phe249Cys-Kv1.1 channels did not show any currents upon functional expression, confirming a pathogenic role of the mutation. Malignant hyperthermia may be a presentation of KCNA1 mutations, which has significant implications for the clinical care of these patients and illustrates the phenotypic heterogeneity of KCNA1 mutations.

Indexed as

Mutation, MissenseAdolescentAtaxiaFamilyFemaleHumansKv1.1 Potassium ChannelMalignant HyperthermiaPedigreeKCNA1 protein, humanKv1.1 Potassium ChannelEpisodic ataxiaKCNA1Malignant hyperthermia

Identifiers

PMID27271339
OpenAlexW2416272916

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.