CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports
These cases underscore the importance of considering <i>ATP1A3</i> variants in children presenting with GBS-like features, infection-triggered neurological attacks, and mixed movement disorders. Our findings highlight the diagnostic value of genetic testing in atypical neuroregression syndromes and contribute to the recognition of "blended" <i>ATP1A3</i> phenotypes beyond classical diagnostic entities. The novel pathogenic variant further supports ongoing efforts to refine genotype-phenotype correlations within this evolving group of neurological disorders.
Authors
- Mehpare Sarı Yanartaş (ORCID: https://orcid.org/0000-0002-7035-6673)
- Ahmet Cevdet Ceylan (ORCID: https://orcid.org/0000-0003-4938-3420)
- Şenay Haspolat (ORCID: https://orcid.org/0000-0003-3596-1816)
- Özlem Yayıcı Köken (ORCID: https://orcid.org/0000-0003-2112-8284)
- T. Kára
- Ayşe Ergül Bozacı
Institutions
- Çankaya University (TR)
- Akdeniz University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-11-27
- DOI
- https://doi.org/10.1159/000549755
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00