Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome
Xing-sheng Dong,
Xiao-jun Wen,
Sheng Zhang
et al.
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 seizures and global neurodevelopmental delay and died at the age of two and a half years.
Methods
We present clinical and molecular findings in the affected indiv… Show more
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