|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM.
|
27919014 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The patient was diagnosed with an R908Q mutation in the ATP1A2 gene causing FHM type 2.
|
25948653 |
2016 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.
|
24921013 |
2014 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
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
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Neurovascular changes in prolonged migraine aura in FHM with a novel ATP1A2 gene mutation.
|
22013243 |
2012 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
Biomarker
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Crystal structure of the sodium-potassium pump at 2.4 A resolution.
|
19458722 |
2009 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
|
18028407 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM).
|
18028407 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose that D999H is a novel FHM ATP1A2 mutation.
|
18184292 |
2008 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes.
|
17397047 |
2007 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP1A2 cause familial hemiplegic migraine (FHM) type 2, a rare monogenic form of migraine with aura (MA).
|
16508935 |
2006 |
|
Hemiplegic migraine, familial type 1
|
0.200 |
GeneticVariation
|
disease |
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 |