(Q35906678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Patrice Roll

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Elisha Roberson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

Kailash Phatechand Bhatia

9 February 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Steven Frucht

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Gabrielle Rudolf

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Nicholas W. Wood

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

13

Susan Bressman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

34

Kathryn J Swoboda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

37

Michael Hanna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

17

Bernard Echenne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Hsien-Yang Lee

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Yong Huang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Nadine Bruneau

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Mark Hermann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Emily Quinn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

James Maas

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Robert Edwards

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Tetsuo Ashizawa

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Betul Baykan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Michiko K Bruno

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ewout R Brunt

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Roberto Caraballo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Natalio Fejerman

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Christina A Gurnett

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Edouard Hirsch

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Henry Houlden

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Wei-Ling Lee

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

David R Lynch

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Shehla Mohammed

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ulrich Müller

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Mark P Nespeca

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

David Renner

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Jacques Rochette

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Shinji Saiki

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Bing-Wen Soong

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Sam Tucker

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Pierre Szepetowski

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ying-Hui Fu

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Louis J Ptáček

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Joseph Jankovic

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

1 reference

15 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

2-12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

9 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=3334308

11 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=3334308

Integrative genomics viewer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Frequent mutation of BAP1 in metastasizing uveal melanomas

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Episodic neurological channelopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

The monogenic primary dystonias

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Infantile convulsions with mild gastroenteritis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Cloning and sequence analysis of the human SNAP25 cDNA

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal dyskinesias: clinical features and classification

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal kinesigenic choreoathetosis in hyperthyroidism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Symptomatic paroxysmal kinesigenic choreoathetosis as primary manifestation of multiple sclerosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Sorting of vesicular monoamine transporter 2 to the regulated secretory pathway confers the somatodendritic exocytosis of monoamines

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Topiramate therapy for paroxysmal kinesigenic choreoathetosis

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Secondary paroxysmal dyskinesias

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Paroxysmal dyskinesias in patients with HIV infection.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3334308

Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion

24 September 2018

1 reference

12 December 2020

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families

1 reference

12 December 2020

Refinement of the chromosome 16 locus for benign familial infantile convulsions

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

Localization and mutation detection for paroxysmal kinesigenic choreoathetosis

1 reference

12 December 2020

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

1 reference

12 December 2020

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

12 December 2020

10.1016/J.CELREP.2011.11.001

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

22832103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22832103%20AND%20SRC:MED&resulttype=core&format=json