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Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In additio...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4799871/ https://ncbi.nlm.nih.gov/pubmed/27066515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.196 |
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