(Q36439205)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

Paroxysmal dyskinesia

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Damien Sanlaville

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Robin Cloarec

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Nadine Bruneau

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Annick Massacrier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Manal Salmi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Marc Bataillard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Clotilde Boulay

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Roberto Caraballo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Natalio Fejerman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Pierre Genton

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Edouard Hirsch

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Alasdair Hunter

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Gaetan Lesca

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jacques Motte

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Agathe Roubertie

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Sau-Wei Wong

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ying-Hui Fu

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jacques Rochette

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Louis J Ptácek

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Pierre Szepetowski

21

1 reference

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15 February 2020

language of work or name

English

0 references

publication date

17 October 2012

1 reference

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15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

2097-2103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

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

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

The prevalence and characteristics of migraine in a population-based cohort: the GEM study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511924

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

30 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23077017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182752C46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

23077017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077017%20AND%20SRC:MED&resulttype=core&format=json