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Indotecan Shows Early Promise in Treatment of Angelman Syndrome

Indotecan (LMP400), a compound already in Phase 1 clinical trials, showed promising results as an Angelman syndrome treatment, a mouse study reported. The study, “Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome,” was published in Molecular Autism. Angelman…

Humor is Crucial for Social and Emotional Well-being in People With Intellectual Disabilities, Review Shows

Humor is essential for the social, developmental and emotional well-being of people affected by different types of intellectual disabilities, including Angelman syndrome, and their caregivers, according to a recent literature review. The review, “Investigating humor in social interaction in people with intellectual disabilities: A systematic review of the literature,”…

Dihydropyrimidine Dehydrogenase Deficiency Found in Boy Later Diagnosed with Angelman, Case Study Reports

Angelman syndrome can occur alongside a condition called dihydropyrimidine dehydrogenase (DPD) deficiency, which has varying degrees of severity and elusive disease mechanisms, a case report suggests. A connection between the two disorders, however, was not established and may be coincidence. The study, “Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical…