Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. (Q33741872)

29 July 2017

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

1 reference

Infantile convulsions and choreoathetosis

29 July 2017

1 reference

Paroxysmal dyskinesia

1 reference

1 reference

1 reference

15

G Mark Lathrop

1 reference

29 July 2017

Patrice Roll

1

0 references

Elisabeth Jouve

Elisabeth Jouve

12

0 references

Gabrielle Rudolf

Gabrielle Rudolf

13

0 references

Damien Sanlaville

Damien Sanlaville

2

0 references

Nadine Bruneau

5

Nadine Bruneau

1 reference

29 July 2017

Jennifer Cillario

3

1 reference

29 July 2017

Audrey Labalme

4

1 reference

29 July 2017

Annick Massacrier

6

1 reference

29 July 2017

Marc Délepine

7

1 reference

29 July 2017

Philippe Dessen

8

1 reference

29 July 2017

Vladimir Lazar

9

1 reference

29 July 2017

Andrée Robaglia-Schlupp

10

1 reference

29 July 2017

Gaëtan Lesca

11

1 reference

29 July 2017

Jacques Rochette

14

1 reference

29 July 2017

Pierre Szepetowski

16

1 reference

29 July 2017

language of work or name

English

0 references

publication date

29 October 2010

1 reference

29 July 2017

1 reference

29 July 2017

5

1 reference

29 July 2017

e13750

1 reference

29 July 2017

10

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

start time

29 October 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Large, rare chromosomal deletions associated with severe early-onset obesity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Microduplications of 16p11.2 are associated with schizophrenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

The creatine transporter gene paralogous at 16p11.2 is expressed in human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Mapping and sequencing of structural variation from eight human genomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Association between microdeletion and microduplication at 16p11.2 and autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Recurrent 16p11.2 microdeletions in autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Genomic rearrangements and sporadic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Copy-number variation and association studies of human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Global variation in copy number in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

The repertoire of solute carriers of family 6: identification of new human and rodent genes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Segmental duplications and copy-number variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

The sequence and analysis of duplication-rich human chromosome 16

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Detection of large-scale variation in the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Isolation and characterization of a novel TP53-inducible gene, TP53TG3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2966418

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0013750

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

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

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

1 reference

12 December 2020

Refinement of the chromosome 16 locus for benign familial infantile convulsions

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0013750

Identifiers

DOI

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference