(Q24536238)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

case report

0 references

title

Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

main subject

episodic ataxia type 2

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S Guida

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S Pagnutti

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

A Tottene

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

T Fellin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Spadaro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

K Stauderman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Williams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S Volsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

R Ophoff

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

R Frants

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

C Jodice

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M Frontali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D Pietrobon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

1 reference

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4 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

759-764

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Molecular mechanism of use-dependent calcium channel block by phenylalkylamines: Role of inactivation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Eye movements in a familial vestibulocerebellar disorder

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Dinucleotide repeat polymorphism in the human RFX1 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Exocytotic Ca2+ channels in mammalian central neurons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Voltage-gated ion channels and electrical excitability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274487

The expression of neuronal voltage-dependent calcium channels in human cerebellum

29 November 2018

1 reference

12 December 2020

Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels

1 reference

12 December 2020

Molecular Determinants of High Affinity Phenylalkylamine Block of l-type Calcium Channels in Transmembrane Segment IIIS6 and the Pore Region of the α1Subunit

1 reference

12 December 2020

Ca2+ channel block and inactivation: common molecular determinants

1 reference

12 December 2020

Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p

1 reference

12 December 2020

Identifiers

DOI

10.1086/318804

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

11179022

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11179022%20AND%20SRC:MED&resulttype=core&format=json