Article

The role of <i>UBE3A</i> in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons

2022-03-12

Abstract excerpt

Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurodevelopmental disorder caused by maternal duplications of this region. Autism and epilepsy are key features of Dup15q, but affected individuals also exhibit intellectual disability and developmental delay. UBE3A , the gene encoding the ubiquitin protein ligase E3A, is likely a major driver of Dup15q because individuals with maternal, but not paternal 15...

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Literature Corpus work: 08916494-b5c5-5a4d-8f4e-f46d27f223f1
DOI: 10.1101/2022.03.11.483963

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