PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. (Q48282368)

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18 February 2020

title

PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia (English)

1 reference

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18 February 2020

1 reference

Hong-Fu Li

1

1 reference

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18 February 2020

Wang Ni

2

1 reference

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18 February 2020

Zhi-Qi Xiong

3

1 reference

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18 February 2020

Jianfeng Xu

4

1 reference

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18 February 2020

Zhi-Ying Wu

5

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18 February 2020

publication date

24 November 2012

1 reference

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CNS Neuroscience & Therapeutics

18 February 2020

published in

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18 February 2020

volume

19

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18 February 2020

issue

1

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18 February 2020

page(s)

61-65

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

18 February 2020

cites work

1 reference

Paroxysmal kinesigenic choreoathetosis: a report of 26 patients

21 January 2018

1 reference

Paroxysmal dyskinesias: clinical features and classification

21 January 2018

1 reference

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

21 January 2018

1 reference

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

21 January 2018

1 reference

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort

21 January 2018

1 reference

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

The SNARE protein SNAP-25 is linked to fast calcium triggering of exocytosis

21 January 2018

1 reference

Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia

21 January 2018

1 reference

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176561

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Probability and paternity testing

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176561

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23176561

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/CNS.12034

1 reference

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18 February 2020

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18 February 2020

PubMed publication ID

23176561

1 reference