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Neuropediatrics 2022; 53(02): 115-121
DOI: 10.1055/a-1739-2722
Original Article

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

Menno D. Stellingwerff
1   Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands
,
Corinne Nulton
2   Department of Neurology, University of Pittsburgh Medical Center, Pennsylvania, United States
,
3   Translational Bioinformatics, Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia
4   Genetics and Genomics, Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia
,
Stefan D. Roosendaal
5   Department of Radiology, Amsterdam University Medical Centers, Amsterdam, The Netherlands
,
William S. Benko
6   Department of Neurology, University of California Davis, Sacramento, California, United States
,
Amy Pizzino
7   Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, Pennsylvania, United States
,
8   Department of Pathology, Amsterdam UMC, location VUmc, The Netherlands
,
Adeline Vanderver
7   Division of Neurology, Children's Hospital of Philadelphia, Abramson Research Center, Philadelphia, Pennsylvania, United States
9   Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States
,
3   Translational Bioinformatics, Murdoch Children's Research Institute, The Royal Children's Hospital, Victoria, Australia
4   Genetics and Genomics, Institute for Molecular Bioscience, The University of Queensland, Queensland, Australia
,
Marjo S. van der Knaap
1   Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands
10   Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands
› Author Affiliations