Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 Biomarker disease BEFREE CLN8 was first identified as the causative gene for a late-onset form with progressive epilepsy and mental retardation in Finnish patients. 19807737 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Homozygous mutations in CLN8 are associated with two distinct phenotypes: progressive epilepsy and mental retardation (EPMR), first identified in Finland; and a variant of late-infantile NCL (v-LINCL) described in a subset of Turkish and Italian patients. 19431184 2009
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.030 GeneticVariation disease BEFREE Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. 17129765 2007