CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Myoclonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.030 Biomarker phenotype BEFREE CSTB-deficient mice, produced by targeted disruption of the mouse Cstb gene, display a phenotype similar to the human disease, with progressive ataxia and myoclonic seizures. 12853462 2003
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.030 Biomarker phenotype BEFREE CSTB homozygous knockout mice show some parallels to the phenotype of human EPM1 including myoclonic seizures, development of ataxia and neuropathological changes associated with cell loss via apoptosis. 14526183 2003
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.030 Biomarker phenotype BEFREE We found that mice lacking cystatin B develop myoclonic seizures and ataxia, similar to symptoms seen in the human disease. 9806543 1998