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- W2883553449 abstract "Abstract 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 KCNA 1 mutation. Delayed diagnosis in this family is emblematic of the broader challenge of diagnosing other paroxysmal motor disorders. We summarize genotypic and phenotypic overlap and provide a suggested diagnostic algorithm for approaching patients with these conditions." @default.
- W2883553449 created "2018-08-03" @default.
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- W2883553449 date "2018-07-17" @default.
- W2883553449 modified "2023-09-26" @default.
- W2883553449 title "Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes" @default.
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- W2883553449 doi "https://doi.org/10.1002/acn3.597" @default.
- W2883553449 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6093839" @default.
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- W2883553449 hasPublicationYear "2018" @default.
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