The Clinical Spectrum and Neurodevelopmental Pathogenesis of <scp> <i>KPTN</i> </scp> ‐Related Disorder in a Mouse Model
KRD is a multisystem neurodevelopmental disorder associated with ID, macrocephaly, epilepsy, mTOR signaling hyperactivation, and in a mouse model, subtle structural alterations in cerebral cortical cytoarchitecture. ANN NEUROL 2026.
Authors
- Ria K. Parikh
- Nishanka Ubeyratna
- Ethan M. Scott (ORCID: https://orcid.org/0000-0002-2129-9422)
- Peter B. Crino (ORCID: https://orcid.org/0000-0002-6232-3740)
- Andrew H. Crosby (ORCID: https://orcid.org/0000-0003-3667-9054)
- Sophie Bruckmeier
- Soad Elziny
- James Fasham (ORCID: https://orcid.org/0000-0002-7614-9202)
- Rebecca Flessner (ORCID: https://orcid.org/0009-0006-4334-3371)
- Richard Caswell (ORCID: https://orcid.org/0000-0003-0713-4602)
- Philip H. Iffland (ORCID: https://orcid.org/0000-0003-2203-188X)
- Martina Owens (ORCID: https://orcid.org/0000-0002-2081-0188)
- Joseph S. Leslie (ORCID: https://orcid.org/0000-0003-0972-8818)
- Lettie E. Rawlins (ORCID: https://orcid.org/0000-0002-6764-253X)
- Janice K. Babus
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Irina Sbornova
- John G. Page
- Merel Verhoeven
- John R. Schreiber
- Steffen Syrbe
- Annick Klabunde‐Cherwon
- Olivia Wenger
Institutions
- University of Maryland, Baltimore (US)
- Clinic for Special Children (US)
- Children's National (US)
- Heidelberg University (DE)
- University of Exeter (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Heidelberg University (US)
- Peninsula College of Medicine and Dentistry (GB)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2026-02-16
- DOI
- https://doi.org/10.1002/ana.78159
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Newlife the Charity for Disabled Children
- National Institute for Health and Care Research
- Department of Health and Social Care
- National Institute of Neurological Disorders and Stroke