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Adult Phenotype of CHD2-Associated Disorders.

Marlene Rong1, Quratulain Zulfiqar Ali1, Angel Aledo-Serrano1

  • 1From the Institute of Medical Science (M.R.), University of Toronto; Adult Genetic Epilepsy (AGE) Program (M.R., Q.Z.A., F.Q., I.C., A.A., D.M.A.), Krembil Neurosciences Institute, Toronto Western Hospital, University Health Network, Canada; Epilepsy Unit (A.A.-S.), Vithas Clinical Neuroscience Institute, Vithas Madrid University Hospitals; Faculty of Experimental Sciences (A.A.-S.), Francisco de Vitoria University, Madrid, Spain; Department of Drug Design and Pharmacology (A.B.), University of Copenhagen; Department for Genetics and Personalized Medicine (A.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (A.B.), University of Southern Denmark, Odense; NYU Langone Epilepsy Center (O.D., F.Q., A.A.); Edmond J. Safra Program in Parkinson's Disease (A.F.), Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN; Division of Neurology (A.F., D.M.A.), Department of Medicine, University of Toronto; Krembil Brain Institute (A.F., D.M.A.); Clinical Genetics Research Program (A.S.B.), Centre for Addiction and Mental Health; The Dalglish Family 22q Clinic (A.S.B.), Toronto General Hospital, University Health Network; Department of Psychiatry (A.S.B.), University of Toronto, Ontario; Toronto Congenital Cardiac Centre for Adults (A.S.B.), Division of Cardiology, Department of Medicine, and Department of Psychiatry, University Health Network and Toronto General Hospital Research Institute and Campbell Family Mental Health Research Institute (A.S.B.), Toronto, Ontario, Canada.

Neurology. Genetics
|November 27, 2024
PubMed
Summary

Adults with CHD2 variants often experience ongoing seizures and significant comorbidities, including behavioral issues and mobility challenges. Seizure severity correlates with worse nonseizure outcomes, impacting daily living and quality of life.

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