|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder.
|
28593511 |
2017 |
|
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 |
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 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 |
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 |
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 |
BEFREE |
Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype.
|
23918834 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial hemiplegic migraine (FHM) type 1 is a rare monogenic dominant autosomal disease due to CACNA1A gene mutations.
|
22527033 |
2012 |
|
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 |
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 |
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 |
We now report on a mutation identified in the first intracellular loop of CACNA1A (alpha(1A(A454T))) that does not cause FHM but is associated with the absence of sensorimotor symptoms in a migraine with aura pedigree.
|
20080591 |
2010 |
|
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 |
Familial hemiplegic migraine (FHM) is a genetically heterogeneous disorder in which three genes, CACNA1A, ATP1A2, and SCN1A, are currently known to be involved.
|
19332696 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CACNA1A mutations are responsible for Familial Hemiplegic Migraine (FHM) type 1, Episodic Ataxia (EA) type 2 and Spinocerebellar Ataxia type 6.
|
18976783 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this issue of the JCI, Eikermann-Haerter et al. show that transgenic mice with FHM-associated mutations in Cacna1a have increased susceptibility to CSD compared with wild-type animals, likely due to augmentation of excitatory neurotransmission (see the related article beginning on page 99).
|
19104145 |
2009 |
|
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 |
Familial hemiplegic migraine (FHM) is genetically heterogeneous with mutations in the CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3) genes.
|
18451712 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, a review of the genetic studies suggests that the FHM genes are not involved in the typical migraines and that FHM should be considered as a syndromic migraine rather than a subtype of MA.
|
18345478 |
2008 |
|
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 |
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 |