De novo variants in immune regulatory genes in Down syndrome regression disorder.

Autor: Jafarpour S; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA.; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA., Banerjee AK; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA., Khoshnood MM; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA.; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA.; Los Angeles General Hospital, Los Angeles, CA, USA., Vogel BN; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA., Boyd NK; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA., Nguyen L; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA., Partridge R; Virginia Mason Health System, Issaquah, WA, USA., Santoro SL; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Down Syndrome Program, Massachusetts General Hospital, Boston, MA, USA., Gombolay GY; Division of Neurology, Department of Pediatrics, Emory School of Medicine, and Children's Healthcare of Atlanta, Atlanta, GA, USA., Fisher KS; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., de Asua DR; Adult Down Syndrome Outpatient Clinic, Department of Internal Medicine, Fundación de Investigación Biomédica, Hospital Universitario de La Princesa, Madrid, Spain., Del Ortega MC; Department of Psychiatry, Clinica Universidad de Navarra, Madrid, Spain., Franklin C; Department of Psychiatry, Mater Research Institute, University of Queensland, Brisbane, Australia., Rafii MS; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA., Santoro JD; Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop 82, Los Angeles, CA, 90027, USA. santoroj@usc.edu.; Department of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA. santoroj@usc.edu.

Publikováno v: Journal of neurology [J Neurol] 2024 Aug; Vol. 271 (8), pp. 5567-5576. Date of Electronic Publication: 2024 Jun 22.