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.
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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.