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

• Κύριοι συγγραφείς: Dan Feng (Συγγραφέας), Ye Li (Συγγραφέας), Ya-Ting Zhang (Συγγραφέας), Yan-Jun Song (Συγγραφέας), Dong-Yuan Qin (Συγγραφέας), Fan Wang (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2024-10-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

BackgroundWWOX-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 degene...