Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms. 31800012 2020
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy. 26002462 2015
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 GeneticVariation disease BEFREE However, the subjects harboring SCN1A mutations and CACNA1A variants had absence seizures more frequently than the patients with only SCN1A mutations (8/20 vs. 0/20, p=0.002). 23103419 2013
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Cav2.1 (P/Q-type) calcium channels control synaptic transmission at presynaptic nerve terminals, and mutations in the gene encoding the Cav2.1 alpha1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents. 20091047 2010
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease RGD Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease CTD_human Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 GeneticVariation disease BEFREE In patients with the absence epilepsy/ataxia phenotype, genetic marker analysis was consistent with linkage to the CACNA1A gene on chromosome 19, which encodes the main pore-forming alpha1A subunit of CaV2.1 channels (CaV2.1alpha1). 15483044 2004
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease GENOMICS_ENGLAND Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996