Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. 29486580 2018
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Familial hemiplegic migraine type 1 (FHM1) is a rare monogenic subtype of migraine with aura caused by mutations in CACNA1A that encodes the α<sub>1A</sub> subunit of voltage-gated Ca<sub>V</sub>2.1 calcium channels. 27032388 2017
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Sixty patients with migraine without aura (MO) or with different types of migraine with aura (MA), including sporadic hemiplegic, familial hemiplegic, and probable familial hemiplegic, were screened for mutations in the four genes previously linked with different types of migraine (ATP1A2, CACNA1A, SCN1A, and KCNK18). 26747084 2016
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Glutamate has been implicated in cortical spreading depression (CSD), the phenomenon responsible for migraine with aura and in animal models carrying FHM mutations. 27423601 2016
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Specific missense mutations in the CACNA1A gene, which encodes a subunit of voltage-gated CaV2.1 channels, are associated with familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of common migraine with aura. 24849341 2014
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Familial hemiplegic migraine type 1 (FHM-1) is an autosomal dominant form of migraine with aura characterized by recurrent migraine, hemiparesis and ataxia. 23430985 2013
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Familial hemiplegic migraine type 1 (FHM-1) is a monogenic form of migraine with aura that is characterized by recurrent attacks of a typical migraine headache with transient hemiparesis during the aura phase. 22549042 2012
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE We now report on a mutation identified in the first intracellular loop of CACNA1A (alpha(1A(A454T))) that does not cause FHM but is associated with the absence of sensorimotor symptoms in a migraine with aura pedigree. 20080591 2010
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease LHGDN Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. 18976783 2009
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease LHGDN Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation. 18279427 2008
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura. 16508934 2006
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease LHGDN Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. 15452324 2004
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE The shared hemiplegic migraine phenotype of mutations in ATP1A2 and CACNA1A raises the possibility that they coordinately regulate ion homeostasis that determines susceptibility to the initiation of both migraine aura and the pain phase of migraine. 14624354 2004
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 Biomarker disease BEFREE Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine with aura that is caused by missense mutations in the CACNA1A gene that encodes the alpha(1) subunit of neuronal Ca(v)2.1 Ca(2+) channels. 15003170 2004
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). 12111613 2002
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE A susceptibility locus for migraine with aura has been located on chromosome 19 (but is distinct from CACNA1A) and a genome-wide linkage analysis has mapped a susceptibility locus on chromosome 4. 12849426 2002
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 GeneticVariation disease BEFREE Recently, the CACNA1A gene encoding the brain-specific P/Q type calcium channel alpha(1) subunit, has been cloned and mutations in this gene, located on chromosome 19p13, have been shown to be involved in familial hemiplegic migraine (FHM), a rare autosomal dominantly inherited subtype of migraine with aura. 11719257 2002
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 Biomarker disease BEFREE Transmission disequilibrium testing provided no evidence for linkage of MA to CACNA1A. 12370474 2002
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.200 Biomarker disease HPO