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<em>WWOX </em>Gene Disease as Infantile Catastrophic Epileptic Encephalopathy (WOREE Syndrome Plus): A Comprehensive Case Study with Brief Literature Update

2026-03-17

Abstract excerpt

The WWOX gene, well-known as tumor suppressor, has also a crucial role as transcrip-tion factor in the developing brain. The bi-allelic loss of WWOX gene causes a condition characterized by drug-resistant epilepsy, developmental delay, and neurological impairments, often resulting in mortality within the first year of life, known as WOREE syndrome (MIM: 616211). Whole Exome Sequencing (WES) analysis was performed...

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Literature Corpus work
6c8f76ab-6ce2-590d-8bc2-f0a2727dd9ad
DOI
10.20944/preprints202603.1296.v1
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<em>WWOX </em>Gene Disease as Infantile Catastrophic Epileptic Encephalopathy (WOREE Syndrome Plus): A Comprehensive Case Study with Brief Literature UpdateDOI 10.20944/preprints202603.1296.v1
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