Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome

BACKGROUND: Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date. In this study, we report on an affected individual with WOREE syndrome who presented with early-onset refractory seizures...

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Detalles Bibliográficos
Autores principales: Dong, Xing-sheng, Wen, Xiao-jun, Zhang, Sheng, Wang, De-gang, Xiong, Yi, Li, Zhi-ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652538/
https://www.ncbi.nlm.nih.gov/pubmed/37974179
http://dx.doi.org/10.1186/s12920-023-01731-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652538/
https://www.ncbi.nlm.nih.gov/pubmed/37974179
http://dx.doi.org/10.1186/s12920-023-01731-4

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