title: Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient.
abstract: Paroxysmal kinesigenic dyskinesia (PKD) is an abnormal involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. Mutations in proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in the cause of this disorder. This study presents a case of PKD on the basis of clinical findings supported and evidences obtained through a mutational analysis. Sequencing of all the exons of PRRT2 gene revealed a frameshift mutation (p.R217Pfs*8) in exon 2 and a novel transition mutation (c.244C > T) in 5'-untranslated region (UTR). Though mutations in PRRT2 gene are well-established in PKD, this study for the first time presents a novel transition mutation in the exon 2 region.
authors.affiliation: Department of Research and Development, Genomics and Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar, India ; Central Research Lab, Raja Rajeswari Medical College and Hospital, Bangalore, Karnataka, India.
authors.forename: S
authors.initials: S
authors.lastname: Prabhakara
authors.affiliation: INSERM U844, Institute for Neurosciences of Montpellier, Hospital St. Eloi, 34295 Montpellier, France.
authors.forename: Kolandaswamy
authors.initials: K
authors.lastname: Anbazhagan
keywords: Mutation analysis; paroxysmal kinesigenic dyskinesia; proline-rich transmembrane protein