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Refractory absence epilepsy associated with GLUT-1 deficiency syndrome

  1. Susan Byrne1,
  2. Jacinta Kearns1,
  3. Ray Carolan1,
  4. Joseph Mc Menamin1,
  5. Joerg Klepper2,
  6. David Webb1

Article first published online: 2 MAR 2011

DOI: 10.1111/j.1528-1167.2011.02989.x

Issue

Epilepsia

Epilepsia

Volume 52, Issue 5, pages 1021–1024, May 2011

Additional Information

How to Cite

Byrne, S., Kearns, J., Carolan, R., Mc Menamin, J., Klepper, J. and Webb, D. (2011), Refractory absence epilepsy associated with GLUT-1 deficiency syndrome. Epilepsia, 52: 1021–1024. doi: 10.1111/j.1528-1167.2011.02989.x

Author Information

  1. 1

    Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland

  2. 2

    The Children’s Hospital, Aschaffenburg, Germany

*Address correspondence to Dr David Webb, Consultant Paediatric Neurologist, Neuroscience Department, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland. E-mail: david.webb@olchc.ie

Publication History

  1. Issue published online: 11 MAY 2011
  2. Article first published online: 2 MAR 2011
  3. Accepted January 6, 2011; Early View publication March 2, 2011.

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Keywords:

  • Generalized epilepsy;
  • Absence seizure;
  • GLUT-1 deficiency syndrome;
  • Pediatrics;
  • EEG

Summary

GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.

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