Disease: Familial Hemiplegic Migraine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Familial hemiplegic migraine type 2 (FHM2) has been characterized by biphasic changes in cerebral blood flow during a migraine attack, with initial hypoperfusion followed by abnormal hyperperfusion of the affected hemisphere. 30768809 2019
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE We speculate whether alternating hemiplegia of childhood shares some common pathophysiological mechanisms with familial hemiplegic migraine that may be associated with a pathogenic variant of ATP1A2. 28637637 2017
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Four gene panels, specific for Parkinson disease, for Intracerebral Hemorrhage Diseases (COL4A1 and COL4A2 genes) and for Familial Hemiplegic Migraine (CACNA1A and ATP1A2 genes) were designed. 28185542 2016
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		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
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. 23918834 2014
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013 2014
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE We describe three unrelated families with familial hemiplegic migraine type II (FHM2). 24096472 2014
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 CausalMutation disease CLINVAR Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 24921013 2014
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE A 32-year-old woman with known familial hemiplegic migraine (point mutation in Exon 22 of the ATP1A2 gene) presented with an acute confusional state, after an initially typical migraine. 23761507 2013
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		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
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE In humans, mutations in ATP1A2 are associated with a rare form of hereditary migraines with aura known as familial hemiplegic migraine type II. 23561701 2013
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation. 22759692 2012
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Genetic studies have identified mutations in the CACNA1, ATP1A2 and SCN1A genes in the rare familial hemiplegic migraine. 21855646 2011
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease CLINVAR Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. 21352219 2011
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease CLINVAR De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 20837964 2010
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		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
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine. 19372756 2009
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 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
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 CausalMutation disease CLINVAR Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 19874388 2009
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. 19007941 2009
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease CLINVAR Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation. 19874388 2009
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		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
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred. 18184292 2008
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. 18028456 2008
CUI: C0338484
Disease: Familial Hemiplegic Migraine
Familial Hemiplegic Migraine 		0.200 GeneticVariation disease BEFREE Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). 18028407 2008