CAPOS syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
CAPOS syndrome. This is caused by mutations in the ATP1A3 gene mutation. The transmission is autosomal dominant. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATP1A3 gene mutation
- The transmission is autosomal dominant
Triggers
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Main clinical features
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Other features
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Acronym
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References
- Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol 2015; 52:56-64.
- Demos MK, van Karnebeek CD, Ross CJ, et al. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis 2014; 9:15.
- Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A 2018; 176:235-240.
- Balestrini S, Mikati MA, Álvarez-García-Rovés R, et al. Cardiac phenotype in ATP1A3-related syndromes: a multicenter cohort study. Neurology 2020; 95: e2866-e2879.
