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Case report of novel CACNA1A 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...
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| Veröffentlicht in: | SAGE Open Med Case Rep |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
SAGE Publications
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5431607/ https://ncbi.nlm.nih.gov/pubmed/28540055 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X17706044 |
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