Article
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clinical genetics - 1 Jan 2022
Jain Lavanya, Oberman Lindsay M, Beamer Laura, Cascio Lauren, May Melanie, Srikanth Sujata, Skinner Cindy, Jones Kelly, Allen Bridgette, Rogers Curtis, Phelan Katy, Kaufmann Walter E, DuPont Barbara, Sarasua Sara M, Boccuto Luigi
Abstract excerpt
Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association with genetic and metabolic features since there has been little research related to seizures in PMS. For 57 individuals, seizure data was collected...
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