CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.040 AlteredExpression phenotype BEFREE All of these factors may be genetically determined, but the greater hyperexcitability underlying more severe seizures and myoclonus at onset may also play a role by increasing cell damage due to reduced cystatin B activity. 28931642 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.040 AlteredExpression phenotype BEFREE Thus we aim to evaluate the effect of an increase in Cstb gene dosage on spontaneous epileptic activity and susceptibility to PTZ-induced seizure. 22140471 2011
CUI: C0036572
Disease: Seizures
Seizures 		0.040 AlteredExpression phenotype BEFREE These findings demonstrate that seizure activity leads to rapid and widespread increases of the synthesis of CSTB in forebrain neurons. 10792446 2000
CUI: C0036572
Disease: Seizures
Seizures 		0.040 Biomarker phenotype BEFREE Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder characterized by seizures, myoclonus and progression to cerebellar ataxia. 10441345 1999