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

Ana Westenberger*, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A. Kühn, Juliane Spiegler, Anthony E. Lang, Jürgen Sperner, Victor S.C. Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein

*Corresponding author for this work
3 Citations (Scopus)

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.

Original languageEnglish
JournalJournal of Pediatrics
Volume181
Pages (from-to)306-308
Number of pages3
ISSN0022-3476
DOIs
Publication statusPublished - 01.02.2017

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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