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Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
Open accessAbstract
BACKGROUND: Several 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. METHODS: We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis. RESULTS: We 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). CONCLUSIONS: All 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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“Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia, leading to paradoxical depolarization with consequent inactivation of Na+ channel and muscle inexcitability [20].”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [20]
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“Loss of function of Kir2.6 together with increased activity of Na+/K+ ATPase may trigger a positive feed-forward cycle of hypokalemia.”
From Thyrotoxic Periodic Paralysis: Clinical Challenges (2014) · cites this paper as [20]
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Metadata
- Authors
- Matthews, E., Labrum, R., Sweeney, M. G., Sud, R., Haworth, A., Chinnery, P. F., Meola, G., Schorge, S., Kullmann, D. M., Davis, M. B., & Hanna, M. G.
- Affiliations
- University of Milan (IT)
- Venue
- Neurology
- Published
- 2009-05-05
- Volume
- 72
- Issue
- 18
- Pages
- 1544-1547
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC2848101
- OpenAlex
- W2116159595
- Cited by
- 201
- References
- 27
- Citations by year
- 2026: 8 · 2025: 10 · 2024: 12 · 2023: 15 · 2022: 7 · 2021: 16 · 2020: 11 · 2019: 19 · 2018: 13 · 2017: 13 · 2016: 11 · 2015: 12 · 2014: 10 · 2013: 12 · 2012: 9
- FWCI
- 3.15
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust (084980, G0601943)
- National Institute for Health and Care Research (G0601943)
- Brain Research Trust
- University College London (G0601943)
- National Institutes of Health
- Medical Research Council (G0601943)
- National Center for Research Resources (U54RR019498, RR019498)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- hypokalemic periodic paralysis, CACNA1S, SCN4A, arginine mutations, missense mutations, voltage-gated potassium channels, novel mutations, genetic diagnosis
- MeSH terms
- Adolescent, Amino Acid Sequence, Arginine, DNA Mutational Analysis, Gene Frequency, Genetic Testing, Genotype, Humans, Membrane Potentials, Muscle Contraction, Mutation, Calcium Channels, Sodium Channels, Ion Channel Gating, Protein Structure, Tertiary, Muscle, Skeletal, Amino Acid Substitution, Genetic Predisposition to Disease, Paralysis, Hyperkalemic Periodic, Calcium Channels, L-Type, Inheritance Patterns, Young Adult, NAV1.4 Voltage-Gated Sodium Channel
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