Gene: CACNA1H ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease BEFREE CACNA1H mutations can be associated with susceptibility to develop generalized epilepsy and focal or multifocal epilepsy of varying severity. 30686625 2019
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease BEFREE Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. 31651342 2019
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN CaV 3.2 drives sustained burst-firing, which is critical for absence seizure propagation in reticular thalamic neurons. 29468672 2018
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease BEFREE Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes. 29948376 2018
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease BEFREE This isoform is also of particular interest because mutations in its gene (CACNA1H) that enhance channel activity have been associated with idiopathic generalized epilepsies, whereas mutations that disrupt its activity have been associated with autism spectrum disorders. 19903827 2010
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN A Cav3.2 T-type calcium channel point mutation has splice-variant-specific effects on function and segregates with seizure expression in a polygenic rat model of absence epilepsy. 19144837 2009
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN Variants in CACNA1H that alter channel properties are present in patients with various generalized epilepsy syndromes. 17696120 2007
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease LHGDN Variants in CACNA1H that alter channel properties are present in patients with various generalized epilepsy syndromes. 17696120 2007
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease BEFREE Variants in CACNA1H that alter channel properties are present in patients with various generalized epilepsy syndromes. 17696120 2007
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 GeneticVariation disease BEFREE A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies. 16565161 2006
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. 15852375 2005
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN Low-voltage-activated calcium channel subunit expression in a genetic model of absence epilepsy in the rat. 10648900 2000
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H 		0.360 Biomarker disease CLINGEN Structure and functional characterization of a novel human low-voltage activated calcium channel. 9930755 1999