John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Epileptic spasms in congenital disorders of glycosylation Volume 19, numéro 1, March 2017

Vidéo

  • Epileptic spasms in congenital disorders of glycosylation

Tableaux

Auteurs
1 Pediatric Neurology Service, Dona Estefânia Hospital, Centro Hospitalar Lisboa Central, EPE, Lisbon, Portugal
2 Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris
3 INSERM U781, Paris Descartes University, Paris
4 Pediatric Radiology Department, Necker Enfants Malades Hospital, Paris
5 INSERM UMR1163 and U1000, Institut Imagine, Paris Descartes University, Paris
6 Center of Metabolism, Necker Enfants Malades Hospital, Paris
7 Institut Imagine, Paris Descartes University APHP, Paris
8 Department of Clinical Neurophysiology, Necker Enfants Malades Hospital, Paris
9 INSERM U1129, Paris, France; Paris Descartes University, CEA, Gif sur Yvette, Paris, France
* Correspondence: Andreia Gomes Pereira Centro de Neurologia, Reabilitação Pediátrica e Desenvolvimento Infantil, Serviço de Pediatria, Centro Hospitalar do Algarve-Unidade de Faro, Rua Leão Penedo, 8000 Faro, Portugal
  • Mots-clés : congenital disorders of glycosylation, epilepsy, epileptic spasms, myoclonus
  • DOI : 10.1684/epd.2017.0901
  • Page(s) : 15-23
  • Année de parution : 2017

Aim

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare.