| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6022746 | Neurobiology of Disease | 2011 | 6 Pages |
Abstract
⺠Startle disease is caused by mutations in glycine receptor and transporter genes. ⺠We report the first genetically confirmed cases of canine startle disease. ⺠We found a novel microdeletion in SLC6A5 encoding the glycine transporter GlyT2. ⺠We can now offer diagnostic testing of carriers and potentially treat this disorder. ⺠Deletion detection techniques should be applied in human startle disease genetics.
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Authors
Jennifer L. Gill, Deborah Capper, Jean-François Vanbellinghen, Seo-Kyung Chung, Robert J. Higgins, Mark I. Rees, G. Diane Shelton, Robert J. Harvey,