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Article

Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism.

Biological psychiatry - 1 Dec 2021

Fink James J, Schreiner Jeremy D, Bloom Judy E, James Jadin, Baker Dylan S, Robinson Tiwanna M, Lieberman Richard, Loew Leslie M, Chamberlain Stormy J, Levine Eric S

Abstract excerpt

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...

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PMID: 34538422
DOI: 10.1016/j.biopsych.2021.07.018
PMCID: PMC8571044

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