title: GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome.
authors.affiliation: Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois (CHUV-UNIL), Lausanne, Switzerland; Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Esposito
authors.affiliation: Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland.
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.affiliation: Unit of Neurology, Department of Internal Medicine, Hôpital Cantonal HFR, Fribourg, Switzerland.
authors.forename: Andrea M
authors.initials: AM
authors.lastname: Humm
authors.affiliation: Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois (CHUV-UNIL), Lausanne, Switzerland.
authors.forename: François
authors.initials: F
authors.lastname: Vingerhoets
authors.affiliation: Department of Clinical Neuroscience, Centre Hospitalier Universitaire Vaudois (CHUV-UNIL), BH13, Rue du Bugnon 21, 1011 Lausanne, Switzerland. Electronic address: Christian.Wider@chuv.ch.
authors.forename: Christian
authors.initials: C
authors.lastname: Wider
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004421:Dystonia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D005260:Female; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D055815:Young Adult
chemical_list: D044385:GTP-Binding Protein alpha Subunits; C084618:olfactory G protein subunit alpha olf
keywords: 18p- syndrome; Dystonia; GNAL; Genetics; Topiramate