(Q33741872)

29 July 2017

title

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

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Infantile convulsions and choreoathetosis

29 July 2017

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Paroxysmal dyskinesia

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15

G Mark Lathrop

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29 July 2017

Patrice Roll

1

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Elisabeth Jouve

Elisabeth Jouve

12

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Gabrielle Rudolf

Gabrielle Rudolf

13

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Damien Sanlaville

Damien Sanlaville

2

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Nadine Bruneau

5

Nadine Bruneau

1 reference

29 July 2017

Jennifer Cillario

3

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29 July 2017

Audrey Labalme

4

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29 July 2017

Annick Massacrier

6

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29 July 2017

Marc Délepine

7

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29 July 2017

Philippe Dessen

8

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29 July 2017

Vladimir Lazar

9

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29 July 2017

Andrée Robaglia-Schlupp

10

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29 July 2017

Gaëtan Lesca

11

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29 July 2017

Jacques Rochette

14

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29 July 2017

Pierre Szepetowski

16

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29 July 2017

language of work or name

English

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publication date

29 October 2010

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29 July 2017

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29 July 2017

volume

5

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29 July 2017

issue

10

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29 July 2017

page(s)

e13750

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Creative Commons Attribution 4.0 International

29 July 2017

copyright license

start time

29 October 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

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

21 June 2018

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

21 June 2018

1 reference

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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

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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

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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

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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

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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

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

21 June 2018

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

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

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

Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis

21 January 2018

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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

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

21 January 2018

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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

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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

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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

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29 July 2017

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29 July 2017

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