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 (Q80045090)

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scientific article published on 14 February 2007

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English	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	scientific article published on 14 February 2007

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scholarly article

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28 December 2019

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 (English)

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28 December 2019

Choreoathetosis

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3

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28 December 2019

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Norio Niikawa

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28 December 2019

Koh-ichiro Yoshiura

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Koh-Ichiro Yoshiura

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28 December 2019

2

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Masayo Nomura

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28 December 2019

1

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Taeko Kikuchi

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28 December 2019

5

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Kazuaki Kanai

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28 December 2019

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Tohru Konishi

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author name string

Naoki Harada

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28 December 2019

Ayako Yasuda

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28 December 2019

Masato Matsuura

8

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28 December 2019

Nobumasa Kato

9

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publication date

14 February 2007

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28 December 2019

Journal of Human Genetics

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28 December 2019

52

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28 December 2019

4

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334-341

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28 December 2019

https://scigraph.springernature.com/pub.10.1007/s10038-007-0116-7

0 references

Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The paroxysmal dyskinesias

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Episodic movement disorders as channelopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17387577

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0116-7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387577%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17387577%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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