Evidence map›Paper›PMID 27173777›Full record

ArticleScientific reports2016

Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29.

Ding Liu, Yumiao Zhang, Yu Wang, Chanjuan Chen, Xin Li, Jinxia Zhou, Zhi Song, Bo Xiao, Kevin Rasco, Feng Zhang and 2 more

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

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 27% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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 8 institutions in 2 countries.

Ding LiuDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yumiao ZhangDepartment of Rehabilitation, the Second Hospital of Hebei Medical University, Hebei, China.
Yu WangComprehensive Epilepsy Center, Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.
Chanjuan ChenDepartment of Neurology, The First Hospital of Changsha, Changsha, Hunan, China.
Xin LiKey Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
Jinxia ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhi SongDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Bo XiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Kevin RascoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Feng ZhangKey Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
Shu WenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Guoliang LiDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Central South University · CNBaylor College of Medicine · USBeijing Institute of Genomics · CNHebei Medical University · CNThe First Hospital of Changsha · CNThird Xiangya Hospital · CNUniversity of Michigan–Ann Arbor · USXiangya Hospital Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) is characterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements. It can be sporadic or familial. Proline-Rich Transmembrane Protein 2 (PRRT2) has been shown to be a common causative gene of PKD. However, less than 50% of patients with primary PKD harbor mutations in PRRT2. The aim of this study is to use eight families with PKD to identify the pathogenic PRRT2 mutations, or possible novel genetic cause of PKD phenotypes. After extensive clinical investigation, direct sequencing and mutation analysis of PRRT2 were performed on patients from eight PKD families. A genome-wide STR and SNP based linkage analysis was performed in one large family that is negative for pathogenic PRRT2 mutations. Using additional polymorphic markers, we identified a novel gene locus on chromosome 3q in this PRRT2-mutation-negative PKD family. The LOD score for the region between markers D3S1314 and D3S1256 is 3.02 and we proposed to designate this locus as Episodic Kinesigenic Dyskinesia (EKD3). Further studies are needed to identify the causative gene within this locus.

Indexed as

Chromosome MappingGenetic LociAdolescentAdultAgedAged, 80 and overAsian PeopleChildChild, PreschoolChromosomes, Human, Pair 3DystoniaFamilyFemaleGenome-Wide Association StudyHaplotypesHumansMembrane ProteinsNerve Tissue ProteinsPRRT2 protein, human

Identifiers

PMID27173777
PMCPMC4865737
OpenAlexW2368330784

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.