rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic.
|
28856914 |
2018 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.
|
28900389 |
2017 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
|
26716990 |
2015 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
|
24836863 |
2014 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
|
18400034 |
2008 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
|
15032980 |
2004 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM families at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study).
|
12756131 |
2003 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
BEFREE |
Bearing in mind that, in particular, the T666M mutation contributes to a large proportion of FHM linked to chromosome 19, we conclude that common migraine is distinct from FHM in its molecular basis and, therefore, most likely also in its pathophysiology.
|
12705332 |
2003 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
|
11409427 |
2001 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
|
11439943 |
2001 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
|
10408532 |
1999 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
|
0.830 |
GeneticVariation
|
UNIPROT |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
rs121908212
|
|
Hemiplegic migraine, familial type 1
|
A |
0.830 |
CausalMutation
|
CLINVAR |
|
|
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rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.
|
28900389 |
2017 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
|
26716990 |
2015 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
|
24836863 |
2014 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
|
18400034 |
2008 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
|
15032980 |
2004 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
To obtain data from direct gene analysis to test this hypothesis, we investigated 143 patients with common migraine, irrespective of their family history, for the presence of mutations known to result in the FHM phenotype; the mutations V714A, R192Q, R583Q, T666M, V1457L, and 11811L were absent in our patient sample.
|
12705332 |
2003 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
|
11409427 |
2001 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
|
11439943 |
2001 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
|
10408532 |
1999 |
rs121908213
|
|
Hemiplegic migraine, familial type 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
We analyzed the phenotype-genotype relation in three unrelated FHM families with the calcium channel alpha1A-subunit gene mutations I1811L (two families) and V714A (one family).
|
9566402 |
1998 |