Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias (Q34236213)

31 July 2017

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias (English)

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31 July 2017

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23

Sheng-Di Chen

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31 July 2017

Jun-Ling Wang

1

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31 July 2017

Li Cao

2

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31 July 2017

Xun-Hua Li

3

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31 July 2017

Zheng-Mao Hu

4

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31 July 2017

Jia-Da Li

5

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31 July 2017

Jian-Guo Zhang

6

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31 July 2017

Yu Liang

7

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31 July 2017

San-A

8

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31 July 2017

Nan Li

9

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31 July 2017

Su-Qin Chen

10

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31 July 2017

Ji-Feng Guo

11

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31 July 2017

Hong Jiang

12

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31 July 2017

Lu Shen

13

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31 July 2017

Lan Zheng

14

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31 July 2017

Xiao Mao

15

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31 July 2017

Wei-Qian Yan

16

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31 July 2017

Ying Zhou

17

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31 July 2017

Yu-Ting Shi

18

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31 July 2017

San-Xi Ai

19

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31 July 2017

Mei-Zhi Dai

20

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31 July 2017

Peng Zhang

21

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31 July 2017

Kun Xia

22

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31 July 2017

Bei-Sha Tang

24

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31 July 2017

language of work or name

English

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publication date

26 November 2011

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31 July 2017

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31 July 2017

134

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31 July 2017

3493-3501

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31 July 2017

Pt 12

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Molecular genetics of attention-deficit/hyperactivity disorder: an overview

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Fast and accurate long-read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

De novo assembly of human genomes with massively parallel short read sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Exome sequencing identifies the cause of a mendelian disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Candidate gene studies of ADHD: a meta-analytic review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

SOAP: short oligonucleotide alignment program

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

A human protein-protein interaction network: a resource for annotating the proteome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal kinesigenic dyskinesias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Molecular analysis of SNAP-25 function in exocytosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Increased ictal perfusion of the thalamus in paroxysmal kinesigenic dyskinesia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

A PET study with [11-C]raclopride in Parkinson's disease: preliminary results on the effect of amantadine on the dopaminergic system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal choreoathetosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal dyskinesias: clinical features and classification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Secondary paroxysmal dyskinesias

6 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR289

Ictal (99m)Tc ECD SPECT in paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR289

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR289

Recombinant versus urinary follicle-stimulating hormone in the low-dose regimen in anovulatory patients with polycystic ovary syndrome: a safer and more effective treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR289

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR289

Late-onset of idiopathic paroxysmal kinesigenic choreoathetosis: a case report

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3235563

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

28 October 2018

1 reference

12 December 2020

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree

1 reference

12 December 2020

A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis associated with prenatal brain damage

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12 December 2020

Ictal muscle discharge pattern and SPECT in paroxysmal kinesigenic choreoathetosis

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families

1 reference

12 December 2020

[Paroxysmal dyskinesias]

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWR289

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31 July 2017

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31 July 2017

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