SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: Drug Resistant Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.020 GeneticVariation disease BEFREE While variants leading to early onset parkinsonism selectively abolish Sac1 function, our results provide evidence that a critical reduction of the dual phosphatase activity of SYNJ1 underlies a severe disorder with neonatal refractory epilepsy and a neurodegenerative disease course. 27435091 2016
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.020 GeneticVariation disease BEFREE Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology. 25316601 2015