Evidence map›Paper›PMID 26494408›Full record

ArticleNeuromuscular disorders : NMD2015

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.

Ami Mankodi, Christopher Grunseich, Martin Skov, Lisa Cook, Georg Aue, Enkhtsetseg Purev, Dara Bakar, Tanya Lehky, Karin Jurkat-Rott, Thomas H Pedersen and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neuromuscular disorders : NMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 38% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Treatment Updates for Neuromuscular Channelopathies.Current treatment options in neurology · 2020
    Review
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

11 authors at 4 institutions in 3 countries.

Ami MankodiNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA. Electronic address: Ami.Mankodi@nih.gov.
Christopher GrunseichNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Martin SkovDepartment of Biomedicine, University of Aarhus, 8000 Aarhus, Denmark.
Lisa CookSection of Transplantation Immunotherapy, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.
Georg AueSection of Transplantation Immunotherapy, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.
Enkhtsetseg PurevSection of Transplantation Immunotherapy, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.
Dara BakarNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Tanya LehkyClinical Neurophysiology Program, EMG Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Karin Jurkat-RottDivision of Neurophysiology, University of Ulm, 89069 Ulm, Germany.
Thomas H PedersenDepartment of Biomedicine, University of Aarhus, 8000 Aarhus, Denmark.
Richard W ChildsSection of Transplantation Immunotherapy, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.
National Heart Lung and Blood Institute · USNational Institute of Neurological Disorders and Stroke · USAarhus University · DKUniversität Ulm · DE

Funding

Allogeneic Immunotherapy for cancer and nonmalignant hematological disordersZIAHL002345 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI CHILDS, RICHARD · 2009 to 2025
$53.3M
Hereditary Muscle Disease UnitZIANS003131 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI MANKODI, AMI · 2012 to 2023
$11.7M
Intramural NIH HHS Z99 NS999999
6 · The paper itself

Abstract

We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation. A further shift in the Nav1.4 channel activation in the hyperpolarizing direction as expected with low divalent cations resulted in myotonia that progressed to membrane inexcitability. Shifting the channel activation in the depolarizing direction as would be anticipated from magnesium supplementation abolished the myotonia. These observations provide clinical and biophysical evidence that the muscle symptoms in sodium channelopathy are sensitive to divalent cations. Exploration of the role of magnesium administration in therapy or prophylaxis is warranted with a randomized clinical trial.

Indexed as

Models, BiologicalAdultCationsComputer SimulationHumansMaleMusclesMyotonic DisordersNAV1.4 Voltage-Gated Sodium ChannelOligopeptidesParalysisCationsMUT 1 peptideNAV1.4 Voltage-Gated Sodium ChannelOligopeptidesSCN4A protein, humanMagnesiumMuscle weaknessMyotoniaParamyotonia congenitaPeriodic paralysisSodium channel

Identifiers

PMID26494408
PMCPMC4630112
OpenAlexW2131140240

What OpenQuestion holds

Textmetadata
LicenceTDM
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.