Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine (Q28302086)

16

Arn M J M van den Maagdenberg

0 references

Virginia Barone

12

Virginia Barone

0 references

Giorgio Casari

Giorgio Casari

14

0 references

Michel Ferrari

13

Michel D Ferrari

0 references

Rune Frants

11

Rune R Frants

0 references

author name string

Kaate R J Vanmolkot

1

0 references

Esther E Kors

2

0 references

Ulku Turk

3

0 references

Dylsad Turkdogan

4

0 references

Antoine Keyser

5

0 references

Ludo A M Broos

6

0 references

Sima Kheradmand Kia

7

0 references

Jeroen J M W van den Heuvel

8

0 references

David F Black

9

0 references

Joost Haan

10

0 references

Jan B Koenderink

European Journal of Human Genetics

15

0 references

language of work or name

English

0 references

publication date

May 2006

0 references

published in

0 references

volume

14

0 references

issue

5

0 references

page(s)

555-60

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

A new locus for hemiplegic migraine maps to chromosome 1q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

ATP1A2 mutations in 11 families with familial hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Functional effects of Na+,K+-ATPase gene mutations linked to familial hemiplegic migraine.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Evolution of substrate specificities in the P-type ATPase superfamily.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607

inferred from DOI database lookup

7 January 2021

based on heuristic

Phylogenetic conservation of isoform-specific regions within alpha-subunit of Na(+)-K(+)-ATPase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201607