(Q43821782)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

Laura Silveira Moriyama

1

1 reference

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23 February 2020

Laura Silveira Moriyama

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Andrew Mallick

9

1 reference

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23 February 2020

14

Andrew J Lees

1 reference

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23 February 2020

author name string

Alice R Gardiner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Esther Meyer

4

1 reference

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23 February 2020

Mary D King

5

1 reference

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23 February 2020

Martin Smith

6

1 reference

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23 February 2020

Karl Rakshi

7

1 reference

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23 February 2020

Alasdair Parker

8

1 reference

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23 February 2020

Richard Brown

10

1 reference

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23 February 2020

Grace Vassallo

11

1 reference

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23 February 2020

Philip E Jardine

12

1 reference

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23 February 2020

Marilisa M Guerreiro

13

1 reference

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23 February 2020

Henry Houlden

15

1 reference

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23 February 2020

Manju A Kurian

16

1 reference

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23 February 2020

publication date

30 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

Developmental Medicine and Child Neurology

23 February 2020

published in

1 reference

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23 February 2020

volume

55

1 reference

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23 February 2020

page(s)

327-334

1 reference

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23 February 2020

issue

4

1 reference

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Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

23 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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/10.1111%2FDMCN.12056

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

PRRT2 mutations are the major cause of benign familial infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

Molecular genetics of migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.12056

21 January 2018

Identifiers

DOI

10.1111/DMCN.12056

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23363396%20AND%20SRC:MED&resulttype=core&format=json

release_5y2jmpuqq5gvtpaok3f3fzdwmq

23 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5y2jmpuqq5gvtpaok3f3fzdwmq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference