A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

Abstract Background Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic background. AS is caus...

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Main Authors: Jessica Duis, Mark Nespeca, Jane Summers, Lynne Bird, Karen G.C.B. Bindels‐de Heus, M. J. Valstar, Marie‐Claire Y. deWit, C. Navis, Maartje ten Hooven‐Radstaake, Bianca M. vanIperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald Thibert, Daniel Glaze, Christopher Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid C. Chambers, Sarah Harris, Henry G. Chambers, Katherine Okoniewski, Elizabeth R. Jalazo, Allyson Berent, Carlos A. Bacino, Charles Williams, Anne Anderson
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Angelman Syndrome
genetics
management
neurogenetics
UBE3A
Online Access:https://doi.org/10.1002/mgg3.1843

Internet

https://doi.org/10.1002/mgg3.1843

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