Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
0.320 GeneticVariation disease BEFREE We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies. 28631894 2017
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
0.320 Biomarker disease CTD_human A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
0.320 GeneticVariation disease LHGDN In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. 17606885 2007