Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Ontology highlight
ABSTRACT:
SUBMITTER: Zima L
PROVIDER: S-EPMC6093839 | biostudies-other | 2018 Aug
REPOSITORIES: biostudies-other
Publications
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Zima Laura L Ceulemans Sophia S Reiner Gail G Galosi Serena S Chen Dillon D Sahagian Michelle M Haas Richard H RH Hyland Keith K Friedman Jennifer J
Annals of clinical and translational neurology 20180717 8
Paroxysmal movement disorders encompass varied motor phenomena. Less recognized features and wide phenotypic and genotypic heterogeneity are impediments to straightforward molecular diagnosis. We describe a family with episodic ataxia type 1, initially mis-characterized as paroxysmal dystonia to illustrate this diagnostic challenge. We summarize clinical features in affected individuals to highlight underappreciated aspects and provide comprehensive phenotypic description of the rare familial <i ...[more]
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