PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. (Q30528873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

1 reference

Paroxysmal dyskinesia

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Valerio Conti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

9

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

4

Domenica Battaglia

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

8

Gaetano Tortorella

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Carla Marini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Donatella Lettori

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Emma Losito

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Grazia Bruccini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

0 references

publication date

17 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%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:23077026%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:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

2109-2114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

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

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=3511926

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

Molecular genetics of migraine

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511926

Refinement of the chromosome 16 locus for benign familial infantile convulsions

20 June 2018

1 reference

12 December 2020

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

1 reference

12 December 2020

Benign infantile familial convulsions

1 reference

12 December 2020

easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.

1 reference

12 December 2020

Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1212/WNL.0B013E3182752CA2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

23077026

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23077026%20AND%20SRC:MED&resulttype=core&format=json