Article
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Neurogenetics - 1 Jan 2016
Brownstein Catherine A, Beggs Alan H, Rodan Lance, Shi Jiahai, Towne Meghan C, Pelletier Renee, Cao Siqi, Rosenberg Paul A, Urion David K, Picker Jonathan, Tan Wen-Hann, Agrawal Pankaj B
Abstract excerpt
Mutations in the KCNA1 gene are known to cause episodic ataxia/myokymia syndrome type 1 (EA1). Here, we describe two families with unique presentations who were enrolled in an IRB-approved study, extensively phenotyped, and whole exome sequencing (WES) performed. Family 1 had a diagnosis of isolated cataplexy triggered by sudden physical exertion in multiple affected individuals with heterogeneous neurological...
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