CPLX1, complexin 1, 10815

N. diseases: 138; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 GeneticVariation disease BEFREE Recently, a homozygous truncating variant in CPLX1 was suggested to be causative for migrating epilepsy and structural brain abnormalities. 28422131 2017