Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
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...
| Main Authors: | , , , , , , , , , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | English |
| Published: |
Springer Berlin Heidelberg,
2017-02-02T21:44:04Z.
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| Subjects: | |
| Online Access: | Get fulltext |