ReviewCurrent neurology and neuroscience reports2012
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Review in Current neurology and neuroscience reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.Nature communications · 2019Pooled it
- Review
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- Review
- Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.Pflugers Archiv : European journal of physiology · 2020Article
- Guidelines on clinical presentation and management of nondystrophic myotonias.Muscle & nerve · 2020Review
- Central Role of Subthreshold Currents in Myotonia.Annals of neurology · 2020Review
- Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.The Journal of physiology · 2019Article
- IncreasedNeurology. Genetics · 2018Article
- Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Anesthesiology · 2018Review
- Thyrotoxic Neuropathy: A rare cause of acute flaccid paraplegia.Sultan Qaboos University medical journal · 2017Article
- Inhibiting persistent inward sodium currents prevents myotonia.Annals of neurology · 2017Article
- Stability and sensitivity of water TNMR in biomedicine · 2016Article
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.The Journal of physiology · 2015Article
- Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.Molecular genetics & genomic medicine · 2015Article
- Expression of calcium-buffering proteins in rat intrinsic laryngeal muscles.Physiological reports · 2015Article
- ClC-1 chloride channels: state-of-the-art research and future challenges.Frontiers in cellular neuroscience · 2015Review
- Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent.Case reports in neurological medicine · 2015Article
- Case 1: Transient quadriplegia in a teenager.Paediatrics & child health · 2014Article
- Focal and abnormally persistent paralysis associated with congenital paramyotonia.BMJ case reports · 2014Article
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.
Funding
Abstract
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presentation causing respiratory compromise through to mild later-onset disease. It remains unclear why the frequency of attacks of paralysis varies greatly or why many patients develop a severe permanent fixed myopathy. Recent detailed characterizations of human genetic mutations in voltage-gated muscle sodium (gene: SCN4A), chloride (gene: CLCN1), calcium (gene: CACNA1S), and inward rectifier potassium (genes: KCNJ2, KCNJ18) channels have resulted in new insights into disease mechanisms, clinical phenotypic variation, and therapeutic options.
Indexed as
Identifiers
22083238What OpenQuestion holds
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.