Case report of novel gene mutation causing episodic ataxia type 2
Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other neurologic symptoms. More than 50 mutations of the CACNA1A gene have been discovered in families with episodic ataxia type 2, although 30%–50% of a...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2017-05-01
|
| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X17706044 |