Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
Our findings show a link between the genetic-biochemical basis and the neuroimaging features and aid in better understanding the underlying clinical manifestations and possible treatment options. These findings have yet to be described to this extent and correspond with recent studies that show that <i>NSD1</i> participates in brain development and has interactions with other known relevant genetic pathways.
Authors
- Kartik Reddy (ORCID: https://orcid.org/0000-0001-7435-1864)
- Sniya Sudhakar (ORCID: https://orcid.org/0000-0002-7632-9705)
- Marta Gómez‐Chiari (ORCID: https://orcid.org/0000-0001-6726-1721)
- Matthew T. Whitehead (ORCID: https://orcid.org/0000-0001-5077-693X)
- Reem Zakzouk (ORCID: https://orcid.org/0009-0005-6297-4577)
- Bar Neeman (ORCID: https://orcid.org/0009-0008-4806-2979)
- Mercè Bolasell
- Jessica Rosenblum (ORCID: https://orcid.org/0009-0004-5762-5260)
- Amal Alhashem (ORCID: https://orcid.org/0000-0002-9668-7809)
- Liat Ben‐Sira (ORCID: https://orcid.org/0000-0002-0827-0190)
- Felice D’Arco (ORCID: https://orcid.org/0000-0001-7396-591X)
- Asthik Biswas (ORCID: https://orcid.org/0000-0003-2010-9524)
- Kshitij Mankad (ORCID: https://orcid.org/0000-0001-5979-9337)
- Rajan Patel (ORCID: https://orcid.org/0000-0002-0891-1541)
- Karuna Shekdar (ORCID: https://orcid.org/0000-0002-2609-1567)
- Mercedes Serrano (ORCID: https://orcid.org/0000-0002-2056-2428)
- Rupa Radhakrishnan (ORCID: https://orcid.org/0000-0001-5224-1891)
- David M. Mirsky (ORCID: https://orcid.org/0000-0003-2162-515X)
- Ulrike Löbel (ORCID: https://orcid.org/0000-0001-9844-3464)
- Jai Sidpra
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Children's Hospital of Philadelphia (US)
- Riyadh Armed Forces Hospital (SA)
- University of Antwerp (BE)
- Emory University (US)
- Tel Aviv University (IL)
- Baylor College of Medicine (US)
- Tel Aviv Sourasky Medical Center (IL)
- Great Ormond Street Hospital (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Children's Hospital Colorado (US)
- Antwerp University Hospital (BE)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Sant Joan de Déu Research Foundation (ES)
- Texas Children's Hospital (US)
- Institut de Recerca Sant Joan de Déu
- Indiana University School of Medicine
- University College London (GB)
- Indiana University – Purdue University Indianapolis (US)
- University of Pennsylvania (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- American Journal of Neuroradiology
- Published
- 2024-08-15
- DOI
- https://doi.org/10.3174/ajnr.a8364
- Citations
- 4
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 2.20
Funders
- Cancer Research UK
- University College London