16p11.2 duplication risk_factor_for epilepsy

Subject: 16p11.2 duplication
Relation: risk_factor_for
Object: epilepsy
p-value: —

Evidence from: primary | all sources

Evidence (2 sources)

Distribution of disease-associated copy number variants across distinct disorders of cognitive development. (2013) PMID:23582872 cited

16p11.2 ... identified in epilepsy

confidence: 0.85

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) PMID:21658581 cited

chromosome 16p11.2 duplications ... have been found in individuals with seizure disorder

confidence: 0.95