rs121908214
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
|
11439943 |
2001 |
rs121908214
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
|
10408532 |
1999 |
rs121908214
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We conclude that the I1811L mutation causes both FHM and cerebellar ataxia independent of the number of CAG repeats.
|
9566402 |
1998 |
rs121908214
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
rs121908214
|
|
|
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 |
rs121908214
|
|
|
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 |
rs121908214
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Twelve familial hemiplegic migraine (FHM) patients (6 with the I1811L mutation in CACNA1A, 3 with M731T mutation in ATP1A2, and 3 without known mutations) and 10 control subjects underwent single-fiber EMG.
|
15557518 |
2004 |
rs121908214
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs121908214
|
|
|
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
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
|
18400034 |
2008 |
rs121908214
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
|
|
|