rs121908212
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
0.830
GeneticVariation
UNIPROT
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
18400034
2008
rs121908212
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
0.830
GeneticVariation
BEFREE
The T666M mutation is t he most frequent CACNA1A mutation in FHM ; it was found in 5 of 33 FHM familie s at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study).
12756131
2003
rs121908212
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
0.830
GeneticVariation
UNIPROT
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
10408532
1999
rs121908212
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
A
0.830
CausalMutation
CLINVAR
rs121908213
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908214
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908225
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908214
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908225
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908214
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
rs121908225
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
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
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
0.820
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
20298421
2010
rs121908214
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Hemiplegic migraine, familial type 1
0.820
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
20298421
2010