WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review

The WW domain-containing oxidoreductase (<i>WWOX</i>) gene, well-known as a tumor suppressor, also has a crucial role as a transcription factor in the developing brain. The bi-allelic loss of the <i>WWOX</i> gene causes a condition characterized by drug-resistant epilepsy, developmental delay, and n...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Annamaria Sapuppo, Roberta Rizzo, Gaia Fusto, Roberta Rocca, Vincenzo Sortino, Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2026-04-01
Schriftenreihe:	Current Issues in Molecular Biology
Schlagworte:	autosomal recessive spinocerebellar ataxia 12 (SCAR12 MIM: 614322) infantile epileptic encephalopathy 28 (IEE28 MIM: 616211) WW domain-containing oxidoreductase (<i>WWOX</i>) gene (MIM: 605131) <i>WWOX</i>-related epileptic encephalopathy (WOREE) syndrome
Online-Zugang:	https://www.mdpi.com/1467-3045/48/5/449
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