ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2007
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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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.
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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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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2008Guideline
- [Consensus recommendations on the diagnosis and treatment of hyperkalemia of the Austrian Society of Nephrology 2026].Wiener klinische Wochenschrift · 2026Review
- Article
- Unilateral Upper Extremity Paralysis Secondary to Hypokalemia and Fasting: A Case Report.Clinical practice and cases in emergency medicine · 2025Article
- Pathophysiology and causes of hyperkalemia: unraveling causes beyond kidney dysfunction.Clinical and experimental nephrology · 2025Review
- Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.European journal of neurology · 2025Article
- Periodic paralysis.Handbook of clinical neurology · 2024Review
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Hyperkalemic periodic paralysis with paramyotonia and the anaesthetic implications.BMJ case reports · 2023Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Animals : an open access journal from MDPI · 2022Article
- Review
- Periodic Paralysis Syndromes: A T3 Thyrotoxicosis Case and Review of Literature.HCA healthcare journal of medicine · 2020Review
- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.Frontiers in neurology · 2019Review
- IncreasedNeurology. Genetics · 2018Article
- Sodium channels and pain: from toxins to therapies.British journal of pharmacology · 2018Review
- Review of the Diagnosis and Treatment of Periodic Paralysis.Muscle & nerve · 2018Review
- Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.Journal of veterinary internal medicine · 2017Review
- Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis.Physiological reports · 2015Article
- Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.Neuromuscular disorders : NMD · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hyperkalemic periodic paralysis (PP) is a dominantly inherited muscle disease characterized by attacks of flaccid weakness and intermittent myotonia. Some patients experience muscle stiffness that is aggravated by cold and exercise, bordering on the diagnosis of paramyotonia congenita. Hyperkalemic PP and paramyotonia congenita are allelic diseases caused by gain-of-function mutations of the skeletal muscle sodium channel, Nav1.4, which is essential for the generation of skeletal muscle action potentials. In this review, the functional and clinical consequences of the mutations and therapeutic strategies are reported and the differential diagnoses discussed. Also, the question is addressed of whether hyperkalemic PP is truly a different entity than normokalemic PP. Additionally, the differential diagnosis of Andersen-Tawil syndrome in which hyperkalemic PP attacks may occur will be briefly introduced. Last, because hyperkalemic PP has been described to be associated with an R83H mutation of a MiRP2 potassium channel subunit, evidence refuting disease-causality in this case will be discussed.
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Registered trials
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.