Article
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
The Journal of pediatrics - 1 Feb 2017
Westenberger Ana, Max Christoph, Brüggemann Norbert, Domingo Aloysius, Grütz Karen, Pawlack Heike, Weissbach Anne, Kühn Andrea A, Spiegler Juliane, Lang Anthony E, Sperner Jürgen, Fung Victor S C, Schallner Jens, Gillessen-Kaesbach Gabriele, Münchau Alexander, Klein Christine
Abstract excerpt
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.
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