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

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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Dan Feng, Ye Li, Ya-Ting Zhang, Yan-Jun Song, Dong-Yuan Qin, Fan Wang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2024-10-01
Schriftenreihe:Frontiers in Pediatrics
Schlagworte:
epileptic encephalopathy
infantile epilepsy
WWOX gene
compound heterozygous mutations
whole-exome sequencing
WOREE syndrome
Online-Zugang:https://www.frontiersin.org/articles/10.3389/fped.2024.1453778/full
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