|
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 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations.
|
27919014 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Further studies with additional families will be necessary to reveal the importance of both CACNA1A and ATP1A2 genes on the pathogeneses of FHM in Brazil and to test the third gene (SCN1A) in these FHM families.
|
17119788 |
2006 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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 |
BEFREE |
CACNA1A gene mutations on chromosome 19 are involved in approximately 50% of FHM families.
|
10408534 |
1999 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine (FHM) is a rare monogenic subform caused by mutations in the calcium channel gene CACNA1A or the Na(+)/K(+)-ATPase gene ATP1A2.
|
16110494 |
2005 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation.
|
18498393 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6).
|
12707077 |
2003 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a CACNA1A gene mutation, leading to a diagnosis of familial hemiplegic migraine (FHM1).
|
20542393 |
2011 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM.
|
11803518 |
2001 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently mutations in a brain-specific P/Q-type Ca2+ channel alpha1 subunit gene (CACNL1A4) were identified in families with chromosome 19-linked FHM.
|
9579893 |
1997 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, direct DNA sequential analysis of the FHM gene (CACNL1A4) ruled out all known FHM point mutations.
|
10766892 |
2000 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FHM is genetically heterogeneous; in about 50% of families it is caused by mutations within the CACNA1A gene on chromosome 19.
|
12111614 |
2002 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2).
|
9302278 |
1997 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
CACNA1A (FHM1) gene, the ATP1A2 (FHM2) and the SCN1A (FHM3) are reported for their correlation to FHM.
|
19007941 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Because FHM gene mutations were also found in family members with "nonhemiplegic" typical migraine with and without aura, our findings reinforce the hypothesis that FHM, SHM, and "normal" migraine are part of a disease spectrum with shared pathogenetic mechanisms.
|
18056581 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, the CACNA1A gene encoding the brain-specific P/Q type calcium channel alpha(1) subunit, has been cloned and mutations in this gene, located on chromosome 19p13, have been shown to be involved in familial hemiplegic migraine (FHM), a rare autosomal dominantly inherited subtype of migraine with aura.
|
11719257 |
2002 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, different types of mutation in the brain-specific P/Q type calcium channel alpha 1A subunit gene (CACNA1A) on chromosome 19p13 were shown to be involved in three human disorders: familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA2), and chronic spinocerebellar ataxia type 6 (SCA6).
|
9781035 |
1998 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine (FHM), episodic ataxia type 2 (EA-2) and SCA 6 are allelic disorders, and interestingly, the occasional presence of DBN in EA-2 was reported.
|
9849799 |
1998 |