| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8272406 | Journal of the Neurological Sciences | 2018 | 33 Pages |
Abstract
In complex movement disorders of unsolved etiology clinical WES can rapidly streamline pathogenic genes. We identified two novel GNAO1 mutations. GPi-DBS can be an effective and life-saving treatment option for patients with GNAO1 mutations and has to be considered early.
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Authors
Anne Koy, Sebahattin Cirak, Victoria Gonzalez, Kerstin Becker, Thomas Roujeau, Christophe Milesi, Julien Baleine, Gilles Cambonie, Alain Boularan, Frederic Greco, Pierre-Francois Perrigault, Claude Cances, Nathalie Dorison, Diane Doummar,