TESC, tescalcin, 54997

N. diseases: 97; N. variants: 1
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies. 30911571 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE The profiles for the epileptic and TSC groups were found to be similar. 28529525 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE We identified 551 unique patients with TSC, of which 386 (70.1%) had epilepsy.The mean study period was 8.82 years. 29078087 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 Biomarker disease BEFREE Neonatal onset of epilepsy in TSC is frequently associated with large malformations of cerebral cortex. 25030328 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.050 GeneticVariation disease BEFREE In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation. 20358377 2010