Evidence map›Paper›PMID 33193641›Full record

ArticleFrontiers in genetics2020

Heterozygous

Xiao-Rong Liu, Wen-Jun Bian, Jie Wang, Ting-Ting Ye, Bing-Mei Li, De-Tian Liu, Bin Tang, Wei-Wen Deng, Yi-Wu Shi, Tao Su and 2 more

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

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Variants inJournal of medical genetics · 2023
    Article
  6. Article
  7. Biallelic ADGRV1 variants are associated with Rolandic epilepsy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
    Article
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

12 authors at 2 institutions in 1 country.

Xiao-Rong LiuKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Wen-Jun BianKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Jie WangKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Ting-Ting YeKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Bing-Mei LiKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
De-Tian LiuKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Bin TangKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Wei-Wen DengKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Yi-Wu ShiKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Tao SuKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Yong-Hong YiKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Wei-Ping LiaoKey Laboratory of Neurogenetics and Channelopathies of Guangdong Institute, Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, of Neuroscience, Province and the Ministry of Education of China, Guangzhou, China.
Second Affiliated Hospital of Guangzhou Medical University · CNGuangzhou Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionIdiopathic focal epilepsy (IFE) is a group of self-limited epilepsies. The etiology for the majority of the patients with IFE remains elusive. We thus screened disease-causing variants in the patients with IFE.

methodsWhole-exome sequencing was performed in a cohort of 323 patients with IFE. Protein modeling was performed to predict the effects of missense variants. The genotype-phenotype correlation of the newly defined causative gene was analyzed.

resultsFour novel heterozygous variants in

conclusionThe genetic and molecular evidence from the present study implies that the

Indexed as

congenital disorder of glycosylationidiopathic focal epilepsyimmunodeficiencyPGM3 genewhole-exome sequencing

Identifiers

PMID33193641
PMCPMC7597759
OpenAlexW3092773244

What OpenQuestion holds

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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.