John Libbey Eurotext

Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome Volume 24, numéro 4, August 2022

Illustrations

  • Figure 1.
  • Figure 2.

Tableaux

Auteurs
1 Department of Pediatric Neurology, King Fahad Specialist Hospital, Dammam, Saudi Arabia
2 Genetic and metabolic department, King Fahad Specialist Hospital, Dammam, Saudi Arabia
Correspondence:
Raidah Al Baradie
Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Ammar Bin Thabit Street, Dammam – 31444, Saudi Arabia

Objective

Epileptic encephalopathy (EE) is difficult to diagnose and manage. It can be caused by a variety of disorders, and its aetiology may guide management and prognosis. The human gene for WW domain-containing oxidoreductase (WWOX) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy.

Methods

We report nine patients with WWOX-related EE from six families. We provide detailed descriptions of clinical presentations, imaging findings, neurophysiological manifestations, and related mutations. Whole-exome sequencing (WES) was used to identify the mutations in the WWOX gene.

Results

We established correlations between genotype and phenotype in our cases and previously reported cases.

Significance

Our data support previously reported findings regarding WWOX-related EE, indicating the importance of the human WWOX gene in brain development and the association between WWOX mutations and EE. Our study also highlights the power of WES, particularly in clinically challenging cases.