Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1

Complex neurological phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. WES can be applied to investigate the “diagnostic odyssey” cases. These cases involve patients with rare diseases of likely genetic eti...

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Detalhes bibliográficos
Publicado no:Mayo Clin Proc
Main Authors: Tacik, Pawel, Guthrie, Kimberly J., Strongosky, Audrey J., Broderick, Daniel F., Riegert-Johnson, Douglas L., Tang, Sha, El-Khechen, Dima, Parker, Alexander S., Ross, Owen A., Wszolek, Zbigniew K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4354704/
https://ncbi.nlm.nih.gov/pubmed/25659636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mayocp.2015.01.001
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