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Article

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

Mayo Clinic proceedings - 1 Mar 2015

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

Abstract excerpt

Complex neurologic phenotypes are inherently difficult to diagnose. Whole-exome sequencing (WES) is a new tool in the neurologist's diagnostic armamentarium. Whole-exome sequencing can be applied to investigate the "diagnostic odyssey" cases. These cases involve patients with rare diseases that likely have a genetic etiology but have failed to be diagnosed by clinical evaluation and targeted gene testing. We...

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Identifiers

PMID: 25659636
DOI: 10.1016/j.mayocp.2015.01.001
PMCID: PMC4354704

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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