Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: A novel GLUT-1 mutation with benign phenotype

Tommaso Bovi, Alfonso Fasano, Ina Juergenson, Cinzia Gellera, Barbara Castellotti, Elena Fontana, Michele Tinazzi

Research output: Contribution to journalArticlepeer-review

Abstract

Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. PED has been recently described as a possible clinical manifestation of mutations of SLC2A1 gene, encoding for the glucose transport GLUT-1. We report a case of a young woman with a mild form of PED associated with self-limiting partial epilepsy. She carries a novel sporadic heterozygous mutation of the SLC2A1 gene. Diagnostic difficulties and possible treatment with carbamazepine are discussed.

Original languageEnglish
Pages (from-to)479-481
Number of pages3
JournalParkinsonism and Related Disorders
Volume17
Issue number6
DOIs
Publication statusPublished - Jul 2011

Keywords

  • Epilepsy
  • GLUT-1 deficiency syndrome
  • Paroxysmal exercise-induced dystonia

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology

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