(Q83593594)

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25 January 2020

title

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions (English)

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25 January 2020

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17

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25 January 2020

Hiroaki Tomita

19

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25 January 2020

21

Norio Niikawa

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25 January 2020

3

Akira Kinoshita

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25 January 2020

2

Koh-ichiro Yoshiura

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25 January 2020

5

Yoshibumi Nakane

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25 January 2020

22

Naohiro Kurotaki

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25 January 2020

4

Taeko Kikuchi

1 reference

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25 January 2020

13

Kazuaki Kanai

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25 January 2020

8

Tohru Konishi

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25 January 2020

1

Shinji Ono

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25 January 2020

7

Miyuki Sadamatsu

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25 January 2020

20

Hiroki Ozawa

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25 January 2020

author name string

Nobumasa Kato

6

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25 January 2020

Shinichiro Nagamitsu

9

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25 January 2020

Masato Matsuura

10

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25 January 2020

Ayako Yasuda

11

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25 January 2020

Maki Komine

12

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25 January 2020

Takeshi Inoue

14

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25 January 2020

Toshio Osamura

15

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25 January 2020

Kayoko Saito

16

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25 January 2020

Hiroyoshi Koide

18

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publication date

8 March 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22399141%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

25 January 2020

published in

1 reference

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volume

57

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issue

5

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25 January 2020

page(s)

338-341

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https://scigraph.springernature.com/pub.10.1038/jhg.2012.23

25 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

The paroxysmal dyskinesias

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

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

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.23

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22399141%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference