16p11.2 duplication associated_with epilepsy

Subject: 16p11.2 duplication
Relation: associated_with
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

also identified in ID, ASD, schizophrenia, and epilepsy.

confidence: 0.90

CNVs: harbingers of a rare variant revolution in psychiatric genetics. (2012) PMID:22424231 cited

reciprocal rearrangements of 16p11.2 ... influence ... susceptibility to epilepsy

confidence: 0.90