Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 27931826.
- Also identified by DOI 10.1016/j.jpeds.2016.10.079.
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Abstract
Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.
Medical subject headings
- Adenylyl Cyclases
- Hemiplegia