AUTHOR=Feng Dan , Li Ye , Zhang Ya-Ting , Song Yan-Jun , Qin Dong-Yuan , Wang Fan 

TITLE=WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report

JOURNAL=Frontiers in Pediatrics

VOLUME=12

YEAR=2024

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1453778

DOI=10.3389/fped.2024.1453778

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p><italic>WWOX</italic>-related epileptic encephalopathy is an autosomal recessive disorder caused by mutations in the WW-containing oxidoreductase gene, characterized by the onset of refractory seizures in infants. Early-onset epilepsy, electroencephalography abnormalities, and developmental delay or degeneration are the main clinical manifestations. Early death can occur in severe cases. In the present study, a novel variant in <italic>WWOX</italic> was detected in a patient with epilepsy and his healthy parents.</p></sec><sec><title>Case presentation</title><p>A 5-month-old boy presented with epilepsy. The main manifestations were intractable seizures, mental and motor retardation and hearing impairment. Subsequent genetic testing revealed the presence of an epilepsy-associated novel mutation: c.991C&gt;A (amino acid change: p.Ser304Tyr) in the <italic>WWOX</italic> gene. Variants were inherited from parents with healthy phenotypes. Finally, a patient died at 6 months of age.</p></sec><sec><title>Conclusion</title><p>The discovery of novel variants has enriched the existing database of <italic>WWOX</italic> gene variants and may expand the range of clinical options for treating <italic>WWOX</italic>-related disorders.</p></sec>