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

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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The sequence and analysis of duplication-rich human chromosome 16

21 June 2018

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Detection of large-scale variation in the human genome

21 June 2018

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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

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21 June 2018

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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

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21 June 2018

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21 June 2018

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21 June 2018

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

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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21 January 2018

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21 January 2018

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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

21 January 2018

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21 January 2018

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21 January 2018

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Refinement of the chromosome 16 locus for benign familial infantile convulsions

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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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