Evidence map›Paper›PMID 32407401›Full record

ArticlePloS one2020

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 35% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. A novel pathogenicFrontiers in genetics · 2026
    Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 1 country.

Chenyu ZhaoDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
DongFang TangThe National & Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.
Hui HuangDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Haiyan TangDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yuan YangDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Min YangDepartment of Rehabilitation, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yingying LuoDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Huai TaoDepatment of Biochemistry and Molecular Biology, Hunan University of Chinese Medicine, Changsha, Hunan, China.
Jianguang TangDepartment of Neurology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xi ZhouThe National & Local Joint Engineering Laboratory of Animal Peptide Drug Development, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China.
Xiaoliu ShiDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.ORCID 0000-0002-9759-2254
Central South University · CNHunan Normal University · CNHunan University of Traditional Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4. The patients with concomitant mutations in both genes manifested different unique symptoms from mutations in these genes separately. Here, we describe a patient with myotonia and periodic paralysis in a consanguineous marriage pedigree. By using whole-exome sequencing, a novel F306S variant in the CLCN1 gene and a known R222W mutation in the SCN4A gene were identified in the pedigree. Patch clamp analysis revealed that the F306S mutant reduced the opening probability of CLC-1 and chloride conductance. Our study expanded the CLCN1 mutation database. We emphasized the value of whole-exome sequencing for differential diagnosis in atypical myotonic patients.

Indexed as

AdolescentAdultAgedAmino Acid SequenceChinaChloride ChannelsConsanguinityConserved SequenceDiagnosis, DifferentialExome SequencingFemaleHEK293 CellsHumansHypokalemic Periodic ParalysisMaleMiddle AgedChloride ChannelsCLC-1 channelMutant ProteinsNAV1.4 Voltage-Gated Sodium ChannelRecombinant ProteinsSCN4A protein, human

Identifiers

PMID32407401
PMCPMC7224471
OpenAlexW3024540050

What OpenQuestion holds

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Registered trials

None linked

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.