WOREE syndrome
WWOX-related epileptic encephalopathy, also known as WOREE syndrome, is a rare genetic developmental disorder. Its effects include drug-resistant epilepsy, developmental delay, ataxia, and premature death at ages 2-4 years.[1][2][3] It is one of several disorders that can be caused by defects in the WWOX gene.[4]
It is a rare disease, with only 60 cases having been identified as of 2023.[5]
References
[edit]- ^ Riva, Antonella; Nobile, Giulia; Giacomini, Thea; Ognibene, Marzia; Scala, Marcello; Balagura, Ganna; Madia, Francesca; Accogli, Andrea; Romano, Ferruccio; Tortora, Domenico; Severino, Mariasavina; Scudieri, Paolo; Baldassari, Simona; Musante, Ilaria; Uva, Paolo (2022). "A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome". Frontiers in Pediatrics. 10: 847549. doi:10.3389/fped.2022.847549. ISSN 2296-2360. PMC 9100683. PMID 35573960.
- ^ Feng, Dan; Li, Ye; Zhang, Ya-Ting; Song, Yan-Jun; Qin, Dong-Yuan; Wang, Fan (2024-10-02). "WWOX-related epileptic encephalopathy caused by a novel mutation in the WWOX gene: a case report". Frontiers in Pediatrics. 12. doi:10.3389/fped.2024.1453778. ISSN 2296-2360. PMC 11479972. PMID 39416860.
- ^ Repudi, Srinivasarao; Steinberg, Daniel J.; Elazar, Nimrod; Breton, Vanessa L.; Aquilino, Mark S.; Saleem, Afifa; Abu-Swai, Sara; Vainshtein, Anna; Eshed-Eisenbach, Yael; Vijayaragavan, Bharath; Behar, Oded; Hanna, Jacob J.; Peles, Elior; Carlen, Peter L.; Aqeilan, Rami I. (2021-11-29). "Neuronal deletion of Wwox, associated with WOREE syndrome, causes epilepsy and myelin defects". Brain: A Journal of Neurology. 144 (10): 3061–3077. doi:10.1093/brain/awab174. ISSN 1460-2156. PMID 33914858.
- ^ Piard, Juliette; Hawkes, Lara; Milh, Mathieu; Villard, Laurent; Borgatti, Renato; Romaniello, Romina; Fradin, Melanie; Capri, Yline; Héron, Delphine; Nougues, Marie-Christine; Nava, Caroline; Arsene, Oana Tarta; Shears, Debbie; Taylor, John; Pagnamenta, Alistair (2019-06-01). "The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature". Genetics in Medicine. 21 (6): 1308–1318. doi:10.1038/s41436-018-0339-3. ISSN 1098-3600. PMC 6752669. PMID 30356099.
- ^ Dong, Xing-sheng; Wen, Xiao-jun; Zhang, Sheng; Wang, De-gang; Xiong, Yi; Li, Zhi-ming (2023-11-16). "Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome". BMC Medical Genomics. 16 (1): 291. doi:10.1186/s12920-023-01731-4. ISSN 1755-8794. PMC 10652538. PMID 37974179.
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