Disease: Absence Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype 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: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 Biomarker phenotype 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: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype BEFREE It has been well established that mice with a mutation at Cacna1a such as tottering and leaner show absence seizures. 17196942 2007
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype CLINVAR