John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations Volume 20, numéro 5, October 2018

Illustrations

  • Figure 1
  • Figure 2
  • Figure 3

Tableaux

Auteurs
1 Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain
2 Division of Genetic and Metabolic Disorders, Departments of Pediatrics, Tawam Hospital, Al Ain
3 Departments of Pathology, College of Medicine and Health Sciences, UAE University, Al Ain
4 Department of Pediatrics, College of Medicine and Health Sciences UAE University, Al Ain, United Arab Emirates
* Correspondence: Jehan Suleiman Department of Pediatric, Division of Neurology, Tawam Hospital, P.O. Box 18258, Al-Ain, United Arab Emirates
  • Mots-clés : WWOX, West syndrome, epileptic encephalopathy, intellectual disability, microcephaly, spasticity
  • DOI : 10.1684/epd.2018.1005
  • Page(s) : 401-12
  • Année de parution : 2018

Aims

Mutations in the WWOX gene have been reported in a number of patients with various neurological disorders including spino-cerebellar ataxia, intellectual disability, epilepsy, and epileptic encephalopathy. We aimed to study the clinical, electrographic, and imaging features of two new cases with WWOX mutations and compare them to previously reported cases with WWOX mutations.