Abbreviations and Acronyms:DMPK (myotonic dystrophy protein kinase gene), EA1 (episodic ataxia type 1), EEG (electroencephalography), EMG (electromyography), HTT (huntingtin gene), MRI (magnetic resonance imaging), WES (whole-exome sequencing)
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Grant Support: This work was supported in part by the Max Kade Foundation (P.T.), grants P50 NS072187 (O.A.R., Z.K.W.) and R01 NS078086 (O.A.R.) from the National Institutes of Health/National Institute of Neurological Disorders and Stroke , a gift from Carl Edward Bolch, Jr, and Susan Bass Bolch (Z.K.W.), and funding from the Mayo Clinic Center for Individualized Medicine.
Potential Competing Interests: Dr Tang and Ms El-Khechen are employed by and receive a salary from Ambry Genetics Corp. Exome sequencing is among its commercially available tests.