×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Results A novel p.Arg348Pro ATP1A2 mutation was found in 14 family members: 12 with clinical FHM , one with psychomotor retardation and possible FHM, and one without FHM features.
27226003 2017
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
Biomarker
BEFREE
Mutations in three genes (CACNA1A, ATP1A2 , and SCN1A) have been found to cause FHM .
27919014 2017
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
CLINVAR
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847 2017
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
The patient was diagnosed with an R908Q mutation in the ATP1A2 gene causing FHM type 2.
25948653 2016
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
To report biphasic changes in cerebral blood flow (CBF) in the acute phase of hemiplegic migraine with prolonged aura (HMPA), in which aura symptoms lasted longer than 24 h, in three patients with familial hemiplegic migraine (FHM ) carrying a p.H916L mutation in ATP1A2 gene.
25411546 2015
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Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
CLINVAR
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.
24921013 2014
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
Biomarker
BEFREE
Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype.
23918834 2014
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
The majority of FHM families have mutations in the CACNA1A and ATP1A2 genes; less than 5% of FHM families are explained by mutations in the SCN1A gene.
24707016 2014
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Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
Biomarker
BEFREE
One of the three known causative genes, ATP1A2 , which encodes the α2 isoform of Na,K-ATPase, causes FHM type 2 (FHM2 ).
23954377 2013
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
We describe a four-generation Italian family with familial hemiplegic migraine (FHM ) and epilepsy due to a novel ATP1A2 missense mutation (R1007W ).
23838748 2013
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.
22013243 2012
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Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
We report a SPECT and PET voxel-based analysis of cerebral blood flow and metabolic rate for glucose in a 23-year-old woman with familial hemiplegic migraine (FHM ) caused by ATP1A2 gene mutation.
20236346 2010
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Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
Biomarker
BEFREE
Mutations in three different genes have been implicated in familial hemiplegic migraine (FHM), two of them code for neuronal voltage-gated cation channels, CACNA1A and SCN1A, while the third encodes ATP1A2 , the alpha(2)-isoform of the Na(+)/K(+)-ATPase's catalytic subunit, thus classifying FHM as an ion channel/ion transporter disorder.
19372756 2009
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Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
CLINVAR
Crystal structure of the sodium-potassium pump at 2.4 A resolution.
19458722 2009
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
Biomarker
BEFREE
CACNA1A (FHM1) gene, the ATP1A2 (FHM2 ) and the SCN1A (FHM3) are reported for their correlation to FHM .
19007941 2009
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
CLINVAR
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
18028407 2008
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM ).
18028407 2008
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Familial hemiplegic migraine (FHM ) is genetically heterogeneous with mutations in the CACNA1A (FHM1), ATP1A2 (FHM2 ) and SCN1A (FHM3) genes.
18451712 2008
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
We propose that D999H is a novel FHM ATP1A2 mutation.
18184292 2008
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2 ) genes.
17397047 2007
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Linkage analysis of these families shows clear linkage to the FHM locus (FHM1) on chromosome 19, supportive linkage to the FHM2 locus whereas no linkage was found to the FHM3 locus.
17142831 2007
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
The type 2 FHM (FHM-2) susceptibility locus maps to chromosome 1q23 and mutations in the ATP1A2 gene at this site have recently been implicated.
17727731 2007
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Besides the two novel mutations, the data here reported confirm the involvement of ATP1A2 gene in the sporadic form of HM, while the negative results on the other families tested for all genes known in HM strengthen the hypothesis of the existence of at least another locus involved in FHM .
17877748 2007
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
Mutations in ATP1A2 cause familial hemiplegic migraine (FHM ) type 2, a rare monogenic form of migraine with aura (MA).
16508935 2006
×
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
Hemiplegic migraine, familial type 1
0.200
GeneticVariation
BEFREE
About 20% of FHM families is linked to chromosome 1q23 (FHM2 ), and has mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na,K-ATPase.
16538223 2006