ArticleCellular and molecular neurobiology2008
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
Article in Cellular and molecular neurobiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 13 citations in OpenAlex.
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Ca2+-dependent modulation of voltage-gated myocyte sodium channels.Biochemical Society transactions · 2021Review
- Identification of aThe Journal of international medical research · 2020Article
- Familial Normokalemic Periodic Paralysis Associated With Mutation in theFrontiers in neurology · 2018Article
- SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.European journal of human genetics : EJHG · 2016Article
- Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.Channels (Austin, Tex.) · 2015Review
- Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.Cellular and molecular neurobiology · 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
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveIn this study, we aim to investigate the clinical features and Mutations of sodium channel alpha-subunit (SCN4A) genes in Chinese patients with normokalemic periodic paralysis (normoKPP).
methodsSix unrelated Chinese families with normoKPP were analyzed in clinical features. Genomic DNA was extracted from peripheral blood leukocytes and amplified with PCR. We screened all 24 exons of SCN4A gene with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed in those who showed heteroduplex as compared with unaffected controls.
resultsThe laboratory tests were within normal ranges. Electromyograms and electrocardiograms were normal. One muscle biopsy was performed with the patient in family 4 after a brief attack of normoKPP. Examination of light microscopy showed no changes, but electronic microscopy showed occasionally degenerating myofibers. The mutations of SCN4A genes were as follows: (1) Met1592Val occurred in family 1. (2) Val-781-Ile occurred with the patient and her father in family 4. (3) Both the patients had a novel mutation g2101a predicting the amino acid exchange Arg675Gln in family 5, which may be a disease-causing mutation.
conclusionsIn addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.
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.