(Q57557338)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

1 reference

6

1 reference

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6 December 2019

author name string

Takahito Wada

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Norio Kobayashi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Yoshio Takahashi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Tomoko Aoki

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

Takako Watanabe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 January 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

47-50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

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

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

Genetic heterogeneity in Italian families with familial hemiplegic migraine

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

Missense CACNA1A mutation causing episodic ataxia type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2801%2900371-X

7 January 2021

10.1016/S0887-8994(01)00371-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11814735%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference