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 |
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 |
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 |
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 |
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 |
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 |
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 |