(Q37692702)

22 August 2017

title

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy (English)

1 reference

22 August 2017

1 reference

Stephanie Schorge

11

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Dimitri Kullmann

object named as

Dimitri M Kullmann

9

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Nicholas W. Wood

object named as

Nicholas W Wood

8

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Michael Hanna

10

object named as

Michael G Hanna

1 reference

22 August 2017

author name string

Sanjeev Rajakulendran

1

1 reference

22 August 2017

Tracey D Graves

2

1 reference

22 August 2017

Robyn W Labrum

3

1 reference

22 August 2017

Dimitrios Kotzadimitriou

4

1 reference

22 August 2017

Louise Eunson

5

1 reference

22 August 2017

Mary B Davis

6

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22 August 2017

Rosalyn Davies

7

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22 August 2017

language of work or name

English

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publication date

15 February 2010

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22 August 2017

published in

Journal of Physiology

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22 August 2017

volume

588

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22 August 2017

issue

Pt 11

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22 August 2017

page(s)

1905-1913

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Identification of CACNA1A large deletions in four patients with episodic ataxia

22 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Stepwise developmental regression associated with novel CACNA1A mutation.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Large CACNA1A deletion in a family with episodic ataxia type 2.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Primary episodic ataxias: diagnosis, pathogenesis and treatment

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapses.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Voltage-gated calcium channels and idiopathic generalized epilepsies.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Nonconsensus intronic mutations cause episodic ataxia.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Clinical spectrum of episodic ataxia type 2.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

The epidemiology of epilepsy revisited

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

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

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Ataxic mouse mutants and molecular mechanisms of absence epilepsy

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Interactions of presynaptic Ca2+ channels and snare proteins in neurotransmitter release

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

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

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering

17 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2901979

Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy

17 September 2018

1 reference

12 December 2020

Acetazolamide-responsive episodic ataxia syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p

1 reference

12 December 2020

New calcium channel mutations predict aberrant RNA splicing in episodic ataxia

1 reference

12 December 2020

CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology

1 reference

12 December 2020

10.1113/JPHYSIOL.2009.186437

Identifiers

DOI

1 reference

22 August 2017

0 references

1 reference