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

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Case reports reveal genetic testing impacts diagnosis of GBS-like disorders in children, suggesting broader ATP1A3 implications.

Cases highlight GBS-like features with accompanying ataxia and dystonia in pediatric patients, linked to ATP1A3 variants.
Notable genetic variants included ATP1A3(NM_001256214.2):c.2491G>A and a novel ATP1A3(NM_152296.5):c.2266C>T variant.
Observational analysis identified phenotypic diversity within ATP1A3-related conditions beyond classical diagnoses.
Findings emphasize the need for genetic testing in atypical movement disorders to improve diagnostic accuracy.

Yanartaş et al. (2025) studied this question.

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