Evidence map›Paper›PMID 31068157›Full record

ArticleBMC neurology2019

Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.

Sushan Luo, Minjie Xu, Jian Sun, Kai Qiao, Jie Song, Shuang Cai, Wenhua Zhu, Lei Zhou, Jianying Xi, Jiahong Lu and 3 more

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

Article in BMC neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.5field-weighted citation impact, top 36% 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

12 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Case report: Dihydropyridine receptor (Frontiers in neurology · 2024
    Article
  6. Review
  7. Article
  8. 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

13 authors at 4 institutions in 1 country.

Sushan LuoDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Minjie XuKey Laboratory of Contraceptives and Devices, Shanghai Institute of Planned Parenthood Research, institute of Reproduction and development, Fudan University, Shanghai, 200032, China.
Jian SunDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Kai QiaoDepartment of clinical electrophysiology, Institute of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Jie SongDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Shuang CaiDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Wenhua ZhuDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Lei ZhouDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Jianying XiDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Jiahong LuDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
Xiaohua NiKey Laboratory of Contraceptives and Devices, Shanghai Institute of Planned Parenthood Research, institute of Reproduction and development, Fudan University, Shanghai, 200032, China.
Tonghai DouState Key Laboratory of Genetic Engineering, Department of Microbiology and Microbial Engineering, School of Life Sciences, Fudan University, 200433, Shanghai, China.
Chongbo ZhaoDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, 200040, China. zhao_chongbo@fudan.edu.cn.
Huashan Hospital · CNFudan University · CNShanghai Institute of Planned Parenthood Research · CNState Key Laboratory of Genetic Engineering

Funding

National Natural Science Foundation of China 81701236National Natural Science Foundation of China 81870988
6 · The paper itself

Abstract

backgroundPrimary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of hot spots or exon-by-exon screening of the reported genes.

methodsWe developed a gene panel that includes 10 ion channel-related genes and 245 muscular dystrophy- and myopathy-related genes and used this panel to diagnose 60 patients with primary periodic paralysis and identify the disease-causing or risk-associated gene mutations.

resultsMutations of 5 genes were discovered in 39 patients (65.0%). SCN4A, KCNJ2 and CACNA1S variants accounted for 92.5% of the patients with a genetic diagnosis.

conclusionsTargeted next-generation sequencing offers a cost-effective approach to expand the genotypes of primary periodic paralysis. A clearer genetic profile enables the prevention of paralysis attacks, avoidance of triggers and the monitoring of complications.

Indexed as

AdultFemaleGenotypeHigh-Throughput Nucleotide SequencingHumansHypokalemic Periodic ParalysisMaleMutationCalcium homeostasis.Gene mutation distributionGene panelPrimary periodic paralysisTargeted next-generation sequencing

Identifiers

PMID31068157
PMCPMC6505267
OpenAlexW2947740911

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.