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Dzinovic, I. ; Serranová, T.* ; Prouteau, C.* ; Colin, E.* ; Ziegler, A.* ; Winkelmann, J. ; Jech, R.* ; Zech, M.

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Neurogenetics 22, 137-141 (2021)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Camta1 ; Dystonia ; Myoclonus ; Neurodevelopmental Disorder
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 22, Issue: 2, Pages: 137-141 Article Number: , Supplement: ,
Publisher Springer
Publishing Place One New York Plaza, Suite 4600, New York, Ny, United States
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants EJP RD, the European Joint Programme on Rare Diseases (EJP RD COFUND-EJP)
Czech Ministry of Education
Charles University, Prague, Czech Republic
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany