(Q34368721)

1 August 2017

title

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

1 reference

Infantile convulsions and choreoathetosis

1 August 2017

1 reference

1 reference

1 reference

Yi-Chung Lee

1

1 reference

1 August 2017

Ming-Jen Lee

2

1 reference

1 August 2017

Hsiang-Yu Yu

3

1 reference

1 August 2017

Chien Chen

4

1 reference

1 August 2017

Chang-Hung Hsu

5

1 reference

1 August 2017

Kon-Ping Lin

6

1 reference

1 August 2017

Kwong-Kum Liao

7

1 reference

1 August 2017

Ming-Hong Chang

8

1 reference

1 August 2017

Yi-Chu Liao

9

1 reference

1 August 2017

Bing-Wen Soong

10

1 reference

1 August 2017

language of work or name

English

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publication date

1 August 2012

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1 August 2017

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1 August 2017

volume

7

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1 August 2017

issue

8

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1 August 2017

page(s)

e38543

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Creative Commons Attribution 4.0 International

1 August 2017

copyright license

start time

1 August 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic 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=3409860

Identification of PRRT2 as the causative gene of 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=3409860

Exome sequencing identifies truncating mutations in PRRT2 that cause 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=3409860

6 July 2018

Paroxysmal dyskinesias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

Clustal W and Clustal X version 2.0

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

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=3409860

SIFT: Predicting amino acid changes that affect protein function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

Mapping of the wet/dry earwax locus to the pericentromeric region of 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=3409860

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=3409860

Paroxysmal kinesigenic dyskinesia and infantile convulsions. Clinical and linkage studies. 2000.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3409860

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22870186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22870186

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0038543

1 reference

1 August 2017

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1 August 2017

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