Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2014  |  Volume : 17  |  Issue : 4  |  Page : 459-462

Molecular analysis of PRRT2 gene in a case of paroxysmal kinesigenic dyskinesia patient


1 Department of Research and Development, Genomics and Central Research Laboratory, Sri Devaraj Urs Academy of Higher Education and Research, Tamaka, Kolar; Central Research Lab, Raja Rajeswari Medical College and Hospital, Bangalore, Karnataka, India
2 INSERM U844, Institute for Neurosciences of Montpellier, Hospital St. Eloi, 34295 Montpellier, France

Correspondence Address:
S Prabhakara
Central Research Laboratory, Raja Rajeswari Medical College and Hospital, Mysore Road, Bangalore - 560 074, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.144039

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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.


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