|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
|
21734179 |
2011 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
|
17575281 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
|
27250579 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
|
27476654 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family.
|
28900389 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
|
11439943 |
2001 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
|
24836863 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma.
|
11409427 |
2001 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
All familial and seven additional sporadic patients with FHM were analyzed to search for mutations within the CACNA1A gene by applying the double gradient-denaturant gradient electrophoresis technique.
|
10408532 |
1999 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
|
8898206 |
1996 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
|
18400034 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
|
11985388 |
2002 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
CTD_human |
Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.
|
24849341 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CACNA1A and ATP1A2 have been found in FHM.
|
16344534 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA.
|
12111613 |
2002 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three causative genes have been identified in familial hemiplegic migraine (FHM) families: CACNA1A, ATP1A2, and SCNA1A.
|
26747084 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The 2 genes implicated in the genetics of FHM are CACNA1A for FHM1 and ATP1A2 for FHM2.
|
15549578 |
2004 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy rarely occurs in FHM and is seen predominantly with specific CACNA1A gene mutations.
|
20071244 |
2010 |