Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins (Q30495941)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20660867%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20660867%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

main subject

episodic ataxia type 1

1 reference

5

1 reference

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8 February 2020

Huw R Morris

4

1 reference

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8 February 2020

Dimitri Kullmann

7

1 reference

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8 February 2020

6

M G Hanna

1 reference

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8 February 2020

author name string

T D Graves

1

1 reference

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8 February 2020

S Rajakulendran

2

1 reference

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8 February 2020

S M Zuberi

3

1 reference

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8 February 2020

language of work or name

English

0 references

publication date

1 July 2010

1 reference

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8 February 2020

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

Neurology

1 reference

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8 February 2020

volume

75

1 reference

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8 February 2020

issue

4

1 reference

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8 February 2020

page(s)

367-372

1 reference

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Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

Episodic ataxia type 1: a neuronal potassium channelopathy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

Spinocerebellar ataxia in monozygotic twins

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918890

10.1212/WNL.0B013E3181EA9EE3

26 November 2018

Identifiers

DOI

1 reference

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8 February 2020

1 reference

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8 February 2020

PubMed publication ID

20660867

1 reference