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WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review
Annamaria Sapuppo1, Roberta Rizzo2, Gaia Fusto2
1Unit of Pediatrics and Pediatric Emergency Department, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, 95123 Catania, Italy.
The WW domain-containing oxidoreductase (WWOX) gene deletion causes WOREE syndrome, characterized by severe neurological issues and epilepsy. This study details a novel compound heterozygous deletion, expanding the known genetic spectrum of this rare condition.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- The WW domain-containing oxidoreductase (WWOX) gene functions as a tumor suppressor and a critical transcription factor in brain development.
- Bi-allelic loss of WWOX leads to WWOX-related epileptic encephalopathy (WOREE) syndrome, a severe condition with drug-resistant epilepsy, developmental delay, neurological impairments, and high early mortality.
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