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CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid
scientific article published on 01 February 2006
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
title
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
main subject
acetazolamide
1 reference
based on heuristic
inferred from title
author name string
Kylie A Scoggan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
Joseph H Friedman
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
Dennis E Bulman
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
publication date
1 February 2006
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
published in
Canadian Journal of Neurological Sciences
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
volume
33
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
page(s)
68-72
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
cites work
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Human autoantibodies specific for the alpha1A calcium channel subunit reduce both P-type and Q-type calcium currents in cerebellar neurons.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical spectrum of episodic ataxia type 2.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
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7 January 2021
based on heuristic
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Phenotype variation and newcomers in ion channel disorders
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
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7 January 2021
based on heuristic
inferred from DOI database lookup
The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and function of voltage-gated ion channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of pore-forming subunit of P-type calcium channels: an antisense study on rat cerebellar Purkinje cells in culture
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure of a calcium channel that is highly expressed in the rat cerebellum
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and function of neuronal Ca2+ channels and their role in neurotransmitter release
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Progressive ataxia due to a missense mutation in a calcium-channel gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Primary structure and functional expression from complementary DNA of a brain calcium channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1017%2FS0317167100004728
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1017/S0317167100004728
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
PubMed publication ID
16583725
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16583725
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16583725%20AND%20SRC:MED&resulttype=core&format=json
retrieved
18 January 2020
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