Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Monallelic pathogenic variants in ATP1A2 are associated with familial hemiplegic migraine type 2 (FHM2) and on rare occasions with alternating hemiplegia of childhood 1 (AHC1). 30690204 2020
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Mutations in ATP1A2, the gene encoding the α2 isoform of the Na<sup>+</sup>/K<sup>+</sup>-ATPase, were identified in patients with familial hemiplegic migraine type 2 (FHM2), a Mendelian model disease for SD. 30819023 2020
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review. 31766058 2019
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease BEFREE Conclusion Heterozygotes of Atp1a2-defective mice simulating FHM2 demonstrated high susceptibility to CSD rather than cortical vasoreactivity, and these effects may differ depending upon the knockout strategy for the gene disruption. 29041816 2018
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease GENOMICS_ENGLAND Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation. 29610157 2018
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Familial hemiplegic migraine type 2 (FHM2) is a rare subtype of migraine caused by mutations in the ATP1A2 gene, encoding the α<sub>2</sub> isoform of the Na<sup>+</sup>/K<sup>+</sup>-ATPase, predominantly expressed in astrocytes. 30446731 2018
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation. 27226003 2017
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene. 24096472 2014
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease UNIPROT A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834 2014
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease CTD_human Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions. 23954377 2013
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease UNIPROT Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy. 23838748 2013
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease BEFREE Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion transportation, including ATP1A2, which codes for the α-2 isoform of the sodium-potassium adenosine triphosphatase, a P-type cation transport adenosine triphosphatase, and responsible for the so-called familial hemiplegic migraine type 2. 22759692 2012
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. 21731499 2011
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease UNIPROT Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. 21352219 2011
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease GENOMICS_ENGLAND Migrainous infarction as a complication of sporadic hemiplegic migraine in childhood. 19838529 2009
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Interestingly, the chromosome 1 peak was located close to the ATP1A2 gene, associated with familial hemiplegic migraine type 2 (FHM2). 18361423 2008
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Therefore, we tested the hypothesis that ATP1A2 mutations in patients with FHM-2 are associated with hypersensitivity to NO-cGMP pathway. 18294248 2008
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease BEFREE Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with familial hemiplegic migraine type 2. 18028456 2008
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 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
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease GENOMICS_ENGLAND Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. 18056581 2007
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease BEFREE Mutations in the Na+K+-ATPase alpha2 subunit gene, ATP1A2, on 1q23 have recently been shown to cause familial hemiplegic migraine type 2 (FHM2). 15133718 2004
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease UNIPROT Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). 12539047 2003
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease GENOMICS_ENGLAND Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 12953268 2003
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 Biomarker disease GENOMICS_ENGLAND Here we show that mutations in the gene ATP1A2 that encodes the alpha2 subunit of the Na+/K+ pump are associated with familial hemiplegic migraine type 2 (FHM2) linked to chromosome 1q23 (OMIM 602481). 12539047 2003
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 		0.800 GeneticVariation disease UNIPROT Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 12953268 2003