ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes - PubMed
6 hours ago
- #fever-triggered neurological disorders
- #pediatric movement disorders
- #ATP1A3 mutations
- ATP1A3-related syndromes include various overlapping neurological phenotypes like AHC, RDP, CAPOS, COS, D-DEM, FIPWE, and RECA, often triggered by fever due to thermolabile enzyme mutations.
- A case series of patients with ATP1A3 mutations (e.g., p.Arg756Cys, p.Arg756His, p.Asp801Asn) shows susceptibility to infections and fever, illustrating interfamilial variability and diagnostic challenges.
- Fever sensitivity in mutant ATP1A3 highlights the need for proactive fever prevention to reduce neurological deterioration, emphasizing genotype-phenotype correlation studies.