Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5 -Mutation-Associated Disease: A Report of Two Cases

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...

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Bibliographic Details

Published in:	The Journal of pediatrics 2017-02, Vol.181, p.306-308.e1
Main Authors:	Westenberger, Ana, PhD, Max, Christoph, BSc, Brüggemann, Norbert, MD, Domingo, Aloysius, MD, Grütz, Karen, MSc, Pawlack, Heike, BSc, Weissbach, Anne, MD, Kühn, Andrea A., MD, Spiegler, Juliane, MD, Lang, Anthony E., MD, Sperner, Jürgen, MD, Fung, Victor S.C., PhD, Schallner, Jens, MD, Gillessen-Kaesbach, Gabriele, MD, Münchau, Alexander, MD, Klein, Christine, MD
Format:	Article
Language:	English
Subjects:	adenylate cyclase 5 (ADCY5) mutations Adenylyl Cyclases - genetics Adolescent alternating hemiplegia of childhood (AHC) case report Child chorea Hemiplegia - genetics Humans Male Mutation pediatric movement disorder Pediatrics
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