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.

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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
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article

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports

Mehpare Sarı Yanartaş, Ahmet Cevdet Ceylan, Şenay Haspolat, Özlem Yayıcı Köken et al.
Molecular Syndromology
Genomics and Rare Diseases
article

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders – Case Reports

Mehpare Sarı Yanartaş, Ahmet Cevdet Ceylan, Şenay Haspolat, Özlem Yayıcı Köken, T. Kára, Ayşe Ergül Bozacı
article en

Abstract

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.

Molecular Syndromology
Çankaya University (TR), Akdeniz University (TR)
Openalex Percentile: Top 61%
Genomics and Rare Diseases
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