ArticleNeurology2009
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Article in Neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 2 of them syntheses that pooled it.
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Who cites it
93 citing papers in PubMed, 2 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Myotonia: Recognition, Evaluation, and Differential Diagnosis.Muscle & nerve · 2026Review
- Review
- 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
- Sudden Tetraplegia from Hypokalaemic Periodic Paralysis Due to Cacna1s Mutation: Should Genetic Testing be Performed More Often?European journal of case reports in internal medicine · 2025Article
- Unraveling an Uncommon Encounter: Hypokalemic Periodic Paralysis with Brugada Phenocopy Amidst Hypokalemia.European journal of case reports in internal medicine · 2025Article
- Familial hypokalemic periodic paralysis: a case induced by concurrent hyperthyroidism.BMC nephrology · 2024Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Article
- Functional effects of drugs and toxins interacting with NaFrontiers in pharmacology · 2024Review
- Periodic paralysis.Handbook of clinical neurology · 2024Review
- A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.BMC pediatrics · 2023Review
- 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
- CaHandbook of experimental pharmacology · 2023Article
- Case report: A novelFrontiers in neurology · 2023Article
- Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.Frontiers in neurology · 2023Article
33 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
backgroundSeveral missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined.
methodsWe undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.
resultsWe identified reported CACNA1S mutations in 64 cases. In the remaining 19 cases, mutations in SCN4A or other CACNA1S S4 segments were found in 10, including three novel changes and the first mutations in channel domains I (SCN4A) and III (CACNA1S).
conclusionsAll mutations affected arginine residues, consistent with the gating pore cation leak hypothesis of hypokalemic periodic paralysis. Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases.
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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.