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Heterozygous mutations of the ATP1A3 gene cause rapid-onset dystonia-parkinsonism (RDP)1,2 and alternating hemiplegia of childhood (AHC).3,4 Intermediate AHC/RDP presentations and phenotypic diversity emerge.5 Aiming at identification of ATP1A3-related conditions beyond classical RDP or AHC phenotypes, we loosened the criteria for mutation analysis of this gene in patients displaying features evocative of AHC or RDP. We describe a 12-year-old boy with an unreported clinical presentation associated with a novel missense mutation of the ATP1A3 gene.
Footnotes
Supplemental data at Neurology.org
Author contributions: Dr. Rosewich: study concept, acquisition of data, analysis and interpretation of data, drafting and revising the manuscript. Dr. Weise: acquisition of clinical data, analysis and interpretation of data, revising the manuscript. Dr. Ohlenbusch: acquisition of genetic data, analysis and interpretation of data, revising the manuscript. Dr. Gärtner: analysis and interpretation of data, revising the manuscript. Dr. Brockmann: study concept, acquisition of data, analysis and interpretation of data, drafting and revising the manuscript.
Study funding: No targeted funding reported.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received January 10, 2014.
- Accepted in final form April 24, 2014.
- © 2014 American Academy of Neurology
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