WOREE syndrome

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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

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.