ArticleMayo Clinic proceedings2015
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.
Article in Mayo Clinic proceedings, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- The impact of COMT, BDNF and 5-HTT brain-genes on the development of anorexia nervosa: a systematic review.Eating and weight disorders : EWD · 2021Pooled it
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- Episodic Ataxias: Faux or Real?International journal of molecular sciences · 2020Review
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
- Therapy of episodic ataxias: case report and review of the literature.Drugs in context · 2019Review
- Variation among Consent Forms for Clinical Whole Exome Sequencing.Journal of genetic counseling · 2018Article
- Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.Annual review of genomics and human genetics · 2016Review
- Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert review of molecular diagnostics · 2016Article
- New insights into the pathogenesis and therapeutics of episodic ataxia type 1.Frontiers in cellular neuroscience · 2015Review
- Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.Movement disorders clinical practiceArticle
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Authors and funding
10 authors.
Funding
Abstract
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 describe such a case, a 22-year-old man who had mild intellectual developmental disability and episodes of jerking ataxic movements that affected his whole body. He underwent numerous multidisciplinary and multicentric evaluations throughout his life that failed to establish a clear diagnosis. Following his visit to Mayo Clinic in Jacksonville, Florida, WES was applied for genetic determination of the unknown disorder in the proband and his biological parents and sister. Additional clinical evaluation, magnetic resonance neuroimaging, electromyography, and electroencephalography of the proband were performed to verify the phenotype after the WES results were available. To our knowledge, this is the first report of the application of WES to facilitate the diagnosis of episodic ataxia type 1. This case illustrates that WES supported by clinical data is a useful and time-saving tool in the evaluation of patients with rare and complex hereditary disorders.
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