Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia (Q24540027)

6 July 2017

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

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familial hemiplegic migraine

6 July 2017

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Ducros A

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6 July 2017

Denier C

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6 July 2017

Joutel A

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6 July 2017

Vahedi K

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6 July 2017

Michel A

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6 July 2017

Darcel F

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6 July 2017

Madigand M

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6 July 2017

Guerouaou D

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6 July 2017

Tison F

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6 July 2017

Julien J

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Hirsch E

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6 July 2017

Chedru F

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Bisgård C

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6 July 2017

Lucotte G

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6 July 2017

Després P

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6 July 2017

Billard C

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6 July 2017

Barthez MA

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6 July 2017

Ponsot G

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6 July 2017

Bousser MG

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6 July 2017

Tournier-Lasserve E

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6 July 2017

language of work or name

English

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publication date

1 January 1999

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American Journal of Human Genetics

6 July 2017

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6 July 2017

64

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6 July 2017

1

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6 July 2017

89-98

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Progressive ataxia due to a missense mutation in a calcium-channel gene

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

De novo mutation in CACNA1A caused acetazolamide-responsive episodic 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=1377706

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=1377706

Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

A new locus for hemiplegic migraine maps to chromosome 1q31

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

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=1377706

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=1377706

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=1377706

A gene for familial hemiplegic migraine maps to chromosome 19

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

The 1993-94 Généthon human genetic linkage map

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

beta subunits influence the biophysical and pharmacological differences between P- and Q-type calcium currents expressed in a mammalian cell line

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Genetic heterogeneity of familial hemiplegic migraine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Roles of N-type and Q-type Ca2+ channels in supporting hippocampal synaptic transmission

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Structure and function of voltage-gated ion channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Neuronal calcium channels encoded by the alpha 1A subunit and their contribution to excitatory synaptic transmission in the CNS.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Localization and functional properties of a rat brain alpha 1A calcium channel reflect similarities to neuronal Q- and P-type channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Migraine coma. Meningitic migraine with cerebral oedema associated with a new form of autosomal dominant cerebellar ataxia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Primary structure and functional expression from complementary DNA of a brain calcium channel

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Distribution and functional significance of the P-type, voltage-dependent Ca2+ channels in the mammalian central nervous system

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Transmembrane auxiliary subunits of voltage-dependent ion channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Biochemical properties and subcellular distribution of the BI and rbA isoforms of alpha 1A subunits of brain calcium channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Familial hemiplegic migraine, retinal degeneration, deafness, and nystagmus

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377706

Familial hemiplegic migraine

29 November 2018

1 reference

12 December 2020

Familial hemiplegic migraine

1 reference

12 December 2020

Familial occurrence of migraine with a hemiplegic syndrome and cerebellar manifestations

1 reference

12 December 2020

An autosomal dominant syndrome of hemiplegic migraine, nystagmus, and tremor

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity of familial hemiplegic migraine

1 reference

12 December 2020

Familial hemiplegic migraine, nystagmus, and cerebellar atrophy

1 reference

12 December 2020

Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations

1 reference

12 December 2020

Chapter 6 Neuronal calcium channels encoded by the α1A subunit and their contribution to excitatory synaptic transmission in the CNS

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302192

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302192

1 reference

release_tgzo5tlzl5asbpmlnrcl7zb34q

6 July 2017

0 references

PMCID

1377706

1 reference

6 July 2017

1 reference