期刊
PEDIATRIC NEUROLOGY
卷 51, 期 6, 页码 850-853出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2014.08.015
关键词
ATP1A3; alternating hemiplegia of childhood; rapid-onset dystonia parkinsonism; movement disorder; genetics; topiramate
资金
- Genome Canada
- Ontario Brain Institute (EpLink)
BACKGROUND: Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3. PATIENT: We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation. RESULTS: Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case. CONCLUSION: The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.
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