The DOI matches its Crossref record.
Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene
Abstract
Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disorder characterized by episodes of muscle weakness due to depolarization of the muscle cell membrane associated with elevated serum potassium. Electrophysiological studies have implicated the adult muscle sodium channel. Here, portions of the adult muscle sodium channel α-subunit gene were cloned and mapped near the human growth hormone locus ( GH1 ) on chromosome 17. In a large pedigree displaying HYPP with myotonia, these two loci showed tight linkage to the genetic defect with no recombinants detected. Thus, it is likely that the sodium channel α-subunit gene contains the HYPP mutation.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
The primary periodic paralyses: diagnosis, pathogenesis and treatment
Venance, S. L., Cannon, S. C., Fialho, D., Fontaine, B., Hanna, M. G., Ptacek, L. J., Tristani-Firouzi, M., Tawil, R., & Griggs, R. C. (2006) · Brain · doi:10.1093/brain/awh639 · Cited by 370
Self-citationInherited disorders of voltage-gated sodium channels
George, A. L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25505 · Cited by 365
The familial periodic paralyses and nondystrophic myotonias
Ptáček, L. (1998) · The American Journal of Medicine · doi:10.1016/s0002-9343(98)00123-5 · Cited by 82
Maggi, L., Bonanno, S., Altamura, C., & Desaphy, J.-F. (2021) · Cells · doi:10.3390/cells10061521 · Cited by 51
Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms
Qing, G., Zakaria, W. N. A., Rom, F. Z. M., Nik, W. N. F. H. W., Zulkeflee, H. A., & Rahim, S. N. A. (2025) · Endocrinology and Metabolism · doi:10.3803/enm.2025.2554 · Cited by 5
“4, which is expressed only in skeletal muscle fibers and is required to maintain excitability [23].”
Metadata
- Authors
- Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., & Brown, R. H.
- Venue
- Science
- Published
- 1990-11-16
- Volume
- 250
- Issue
- 4983
- Pages
- 1000-1002
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2045139512
- Cited by
- 304
- References
- 0
- FWCI
- 8.24
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene. https://app.cochat.ai/papers/10.1126/science.2173143
- The paper
- Fontaine, B., Khurana, T. S., Hoffman, E. P., Bruns, G. A. P., Haines, J. L., Trofatter, J. A., Hanson, M. P., Rich, J., McFarlane, H., Yasek, D. M., Romano, D., Gusella, J. F., & Brown, R. H. (1990). Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene. Science. https://doi.org/10.1126/science.2173143
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
