ReviewThe Journal of physiology2010
Voltage-sensor mutations in channelopathies of skeletal muscle.
Review in The Journal of physiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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.
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
70 citing papers in PubMed, 116 citations in OpenAlex.
- Molecular genetics of skeletal muscle channelopathies.Journal of human genetics · 2025Review
- Hypokalemic paralysis in an adolescent following dexamethasone and B12 injection: A case report and literature review.Heliyon · 2025Article
- Novel compound heterozygous mutations inHeliyon · 2024Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Periodic paralysis.Handbook of clinical neurology · 2024Review
- Fifty years of gating currents and channel gating.The Journal of general physiology · 2023Review
- Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.Disease models & mechanisms · 2023Article
- Steroid-induced hypokalemic periodic paralysis: a case report and literature review.BMC nephrology · 2023Review
- Case Report: Clinical delineation ofFrontiers in neurology · 2023Article
- The omega of TRPM7 channels in trigeminal neuralgia.Pflugers Archiv : European journal of physiology · 2022Article
- Voltage-dependent CaAmerican journal of physiology. Cell physiology · 2022Article
- Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.Journal of chemical information and modeling · 2021Article
- Voltage-Gated Sodium Channel Modulation by a New Spider Toxin Ssp1a Isolated From an Australian Theraphosid.Frontiers in pharmacology · 2021Article
- De novo CACNA1D CaPflugers Archiv : European journal of physiology · 2020Review
- Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.Brain communications · 2020Article
- Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.Channels (Austin, Tex.) · 2019Review
- Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis.The Journal of general physiology · 2019Article
- Article
- Skeletal Muscle Channelopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.Scientific reports · 2018Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Mutations of voltage-gated ion channels cause several channelopathies of skeletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both. Expression studies have revealed both loss-of-function and gain-of-function defects for the currents passed by mutant channels. In many cases, these functional changes could be mechanistically linked to the defects of fibre excitability underlying myotonia or periodic paralysis. One remaining enigma was the basis for depolarization-induced weakness in hypokalaemic periodic paralysis (HypoPP) arising from mutations in either sodium or calcium channels. Curiously, 14 of 15 HypoPP mutations are at arginines in S4 voltage sensors, and recent observations show that these substitutions support an alternative pathway for ion conduction, the gating pore, that may be the source of the aberrant depolarization during an attack of paralysis.
Indexed as
Identifiers
What 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.