rs1564367605, KCNT1

N. diseases: 1
Disease: Seizures ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. 28488083 2017
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507 2016
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015