Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Affiliations

• ¹ Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
• ² GeneDx, Gaithersburg, MD, USA.
• ³ VMP Genetics, Roswell, GA, USA.
• ⁴ Department of Kinesiology, University of Georgia, Athens, GA, USA.
• ⁵ Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
• ⁶ Division of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
• ⁷ Individualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
• ⁸ Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
• ⁹ Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
• ¹⁰ Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
• ¹¹ Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
• ¹² Valley Hospital, Ridgewood, NJ, USA.
• ¹³ New York Medical College, Valhalla, NY, USA.
• ¹⁴ Department of Medicine, Columbia University Medical Center, New York, NY, USA.