Hyperexcitable phenotypes in induced pluripotent stem cell–derived neurons from patients with 15q11-q13 duplication syndrome, a genetic form of autism
JJ Fink, JD Schreiner, JE Bloom, J James, DS Baker… - Biological …, 2021 - Elsevier
Abstract Background Chromosome 15q11-q13 duplication syndrome (Dup15q) is a
neurogenetic disorder caused by duplications of the maternal copy of this region. In addition
to hypotonia, motor deficits, and language impairments, patients with Dup15q commonly
meet the criteria for autism spectrum disorder and have a high prevalence of seizures. It is
known from mouse models that synaptic impairments are a strong component of Dup15q
pathophysiology; however, cellular phenotypes that relate to seizures are less clear. The …
neurogenetic disorder caused by duplications of the maternal copy of this region. In addition
to hypotonia, motor deficits, and language impairments, patients with Dup15q commonly
meet the criteria for autism spectrum disorder and have a high prevalence of seizures. It is
known from mouse models that synaptic impairments are a strong component of Dup15q
pathophysiology; however, cellular phenotypes that relate to seizures are less clear. The …