WWOX

Publications

Abdel-Salam G et al. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis. 2014;9(1):12. PMID: 24456803.

Ben-Salem S et al. A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy. J Mol Neurosci. 2014;56(1):17-23. PMID: 25403906.

Davids M et al. Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy. Hum Mutat. 2018;40(1):42-47. PMID: 30362252.

Ehaideb S et al. Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review. Transl Neurosci. 2018;9(1):203-208. PMID: 30746283.

Elsaadany L et al. W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report. BMC Med Genet. 2016;17(1). PMID: 27495153.

Gribaa M et al. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Brain. 2007;130(7):1921-1928. PMID: 17470496.

Johannsen J et al. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay. Neurogenetics. 2018;19(3):151-156. PMID: 29808465.

Mallaret M et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2013;137(2):411-419. PMID: 24369382.

Mignot C et al. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. J Med Genet. 2014;52(1):61-70. PMID: 25411445.

Piard J et al. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Genetics in Medicine. 2018;21(6):1308-1318. PMID: 30356099.

Serin H et al. WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation. Neurological Sciences. 2018;39(11):1977-1980. PMID: 30094525.

Shaukat Q et al. West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. Epileptic Disorders. 2018;20(5):401-412. PMID: 30361190.

Suzuki H et al. A spontaneous mutation of the WWOX gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. Genes, Brain and Behavior. 2009;8(7):650-660. PMID: 19500159.

Tabarki B et al. Severe CNS involvement in WWOX mutations: Description of five new cases. Am J Med Genet A. 2015;167(12):3209-3213. PMID: 26345274.

Tarta-Arsene O et al. Practical clues for diagnosing WWOX encephalopathy. Epileptic Disorders. 2017;19(3):357-361. PMID: 28721938.

Valduga M et al. WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. J Hum Genet. 2015;60(5):267-271. PMID: 25716914.

Weisz-Hubshman M et al. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. Eur J Paediatr Neurol. 2019;23(3):418-426. PMID: 30853297.

Yang C et al. Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy.Int J Dev Neurosci. 2019;79(1):45-48. PMID: 31669195.

Su T et al. Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene. Int J Dev Neurosci. 2020;80(2):157-161. PMID: 32037574.

Suggested Review articles

Abu-Remaileh M et al. Pleiotropic Functions of Tumor Suppressor WWOX in Normal and Cancer Cells. J Biol Chem. 2015;290(52):30728-35. PMID: 26499798.

Aldaz CM et al. WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies. Biochim Biophys Acta. 2014;1846(1):188-200. Review. PMID: 24932569.

Liu CC et al. WWOX Phosphorylation, Signaling, and Role in Neurodegeneration. Front Neurosci. 2018;12:563. Review. PMID: 30158849.

Richards RI et al. WWOX, the chromosomal fragile site FRA16D spanning gene: its role in metabolism and contribution to cancer. Exp Biol Med (Maywood). 2015;240(3):338-44. Review. PMID: 25595186.

Schrock MS et al. WWOX: a fragile tumor suppressor. Exp Biol Med (Maywood). 2015;240(3):296-304. Review. PMID: 25538133.

Tanna M et al. Modeling WWOX Loss of Function in vivo: What Have We Learned? Front Oncol. 2018;8:420. Review. PMID: 30370248.