Literature DB >> 11076005

Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder.

L Margari1, T Perniola, G Illiceto, E Ferrannini, M G De Iaco, A Presicci, R Santostasi, P Ventura.   

Abstract

We report a family with 6 members affected by a long-lasting paroxysmal exertion-induced dyskinesia. Fasting and stress were precipitating factors. All the patients of this family had also epileptic seizures mainly of generalised type with a favourable outcome. All patients were submitted to a neurophysiological study which included somatosensory evoked potentials by median nerve stimulation (MN-SEPs), somatosensory evoked potentials by posterior tibial nerve stimulation (PTN-SEPs), brainstem auditory evoked potentials (BAEPs), visual evoked potentials (VEPs), motor evoked potentials (MEPs) by magnetic transcranial cortical stimulation (TCS) and electromyography (EMG). The neurophysiological findings suggest a hyperexcitability at the muscular and brain membrane levels, probably due to an ion channel disorder.

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Year:  2000        PMID: 11076005     DOI: 10.1007/s100720070092

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  7 in total

1.  Transcranial Magnetic Stimulation in Epilepsy.

Authors:  William H. Theodore
Journal:  Epilepsy Curr       Date:  2003-11       Impact factor: 7.500

2.  Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.

Authors:  Anne Roubergue; Emmanuelle Apartis; Valérie Mesnage; Diane Doummar; Jean-Marc Trocello; Emmanuel Roze; Guillaume Taieb; Thierry Billette De Villemeur; Sandrine Vuillaumier-Barrot; Marie Vidailhet; Richard Levy
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

3.  GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

Authors:  Yvonne G Weber; Alexander Storch; Thomas V Wuttke; Knut Brockmann; Judith Kempfle; Snezana Maljevic; Lucia Margari; Christoph Kamm; Susanne A Schneider; Stephan M Huber; Arnulf Pekrun; Robert Roebling; Guiscard Seebohm; Saisudha Koka; Camelia Lang; Eduard Kraft; Dragica Blazevic; Alberto Salvo-Vargas; Michael Fauler; Felix M Mottaghy; Alexander Münchau; Mark J Edwards; Anna Presicci; Francesco Margari; Thomas Gasser; Florian Lang; Kailash P Bhatia; Frank Lehmann-Horn; Holger Lerche
Journal:  J Clin Invest       Date:  2008-06       Impact factor: 14.808

4.  Late-onset choreoathetotic syndrome following heart surgery.

Authors:  Maria Grazia Passarin; Silvia Romito; Mirko Avesani; Franco Alessandrini; Giuseppe Petrilli; Francesco Santini; Laura Bertolasi; Annamaria Musso; Carmela Ebba Buffone; Sarah Ottaviani; Paolo Bovi; Giuseppe Moretto
Journal:  Neurol Sci       Date:  2009-10-28       Impact factor: 3.307

Review 5.  Genetics of paroxysmal dyskinesias.

Authors:  Yvonne G Weber; Holger Lerche
Journal:  Curr Neurol Neurosci Rep       Date:  2009-05       Impact factor: 5.081

6.  A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.

Authors:  Miaomiao Yu; Jing Miao; Yudan Lv; Xue Wang; Wuqiong Zhang; Na Shao; Hongmei Meng
Journal:  Front Neurol       Date:  2021-01-28       Impact factor: 4.003

7.  Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Authors:  Arvid Suls; Peter Dedeken; Karolien Goffin; Hilde Van Esch; Patrick Dupont; David Cassiman; Judith Kempfle; Thomas V Wuttke; Yvonne Weber; Holger Lerche; Zaid Afawi; Wim Vandenberghe; Amos D Korczyn; Samuel F Berkovic; Dana Ekstein; Sara Kivity; Philippe Ryvlin; Lieve R F Claes; Liesbet Deprez; Snezana Maljevic; Alberto Vargas; Tine Van Dyck; Dirk Goossens; Jurgen Del-Favero; Koen Van Laere; Peter De Jonghe; Wim Van Paesschen
Journal:  Brain       Date:  2008-06-24       Impact factor: 13.501

  7 in total

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