Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome

• Main Authors: Xing-sheng Dong (Author), Xiao-jun Wen (Author), Sheng Zhang (Author), De-gang Wang (Author), Yi Xiong (Author), Zhi-ming Li (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected individual with WOREE syndrome who presented with early-onset refractory s...