Article

Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencing

2023-03-24

Abstract excerpt

<h4>Background: </h4> WWOX biallelic and loss-of-function pathogenic variants cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 patients to date. In this study, we report on a WOREE syndrome patient who presented with early-onset refractory seizures and global neurodevelopmental delay and died at the age of two and a half years. <h4>Methods: </h4> We present clinical and...

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Literature Corpus work: 58dde2d3-058c-52e7-a2c0-93c0f7c831f1
DOI: 10.21203/rs.3.rs-2617116/v1

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