Paroxysmal Kinesigenic Dyskinesia

Paroxysmal Kinesigenic Dyskinesia

<p><strong>Background</strong>:&nbsp;Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong&...

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Main Authors: Martin Paucar, Helena Malmgren, Per Svenningsson
Format: Article
Language:English
Published: Ubiquity Press 2017-12-01
Series:Tremor and Other Hyperkinetic Movements
Online Access:https://tremorjournal.org/index.php/tremor/article/view/529
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spelling doaj-7f98bd795db146ebb7659f28fd5d622e2021-04-02T12:13:46ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882017-12-01710.7916/D8R79N2F359Paroxysmal Kinesigenic DyskinesiaMartin Paucar0Helena Malmgren1Per Svenningsson2Department of Neurology, Karolinska University Hospital Huddinge and Department of Clinical Neuroscience, Karolinska Institutet, StockholmDepartment of Clinical Genetics, Karolinska University Hospital Solna and Department of Molecular Medicine and Surgery, Karolinska Institutet, StockholmDepartment of Neurology, Karolinska University Hospital Huddinge and Department of Clinical Neuroscience, Karolinska Institutet, Stockholm<p><strong>Background</strong>:&nbsp;Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong>:&nbsp;In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette&rsquo;s syndrome.</p><p><strong>Educational Value</strong>:&nbsp;Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.</p>https://tremorjournal.org/index.php/tremor/article/view/529
collection DOAJ
language English
format Article
sources DOAJ
author Martin Paucar
Helena Malmgren
Per Svenningsson
spellingShingle Martin Paucar
Helena Malmgren
Per Svenningsson
Paroxysmal Kinesigenic Dyskinesia
Tremor and Other Hyperkinetic Movements
author_facet Martin Paucar
Helena Malmgren
Per Svenningsson
author_sort Martin Paucar
title Paroxysmal Kinesigenic Dyskinesia
title_short Paroxysmal Kinesigenic Dyskinesia
title_full Paroxysmal Kinesigenic Dyskinesia
title_fullStr Paroxysmal Kinesigenic Dyskinesia
title_full_unstemmed Paroxysmal Kinesigenic Dyskinesia
title_sort paroxysmal kinesigenic dyskinesia
publisher Ubiquity Press
series Tremor and Other Hyperkinetic Movements
issn 2160-8288
publishDate 2017-12-01
description <p><strong>Background</strong>:&nbsp;Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (<em>PRRT2</em>) gene.</p><p><strong>Phenomenology Shown</strong>:&nbsp;In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette&rsquo;s syndrome.</p><p><strong>Educational Value</strong>:&nbsp;Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.</p>
url https://tremorjournal.org/index.php/tremor/article/view/529
work_keys_str_mv AT martinpaucar paroxysmalkinesigenicdyskinesia
AT helenamalmgren paroxysmalkinesigenicdyskinesia
AT persvenningsson paroxysmalkinesigenicdyskinesia
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