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A Chinese patient with epilepsy and WWOX compound heterozygous mutations Volume 22, numéro 1, February 2020

  • [Abdel-Salam et al., 2014] Abdel-Salam G., Thoenes M., Afifi H.H. 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;9:12.
  • [Aqeilan et al., 2007] Aqeilan R.I., Trapasso F., Hussain S. Targeted deletion of WWOX reveals a tumor suppressor function. Proc Natl Acad Sci USA. 2007;104:3949-3954. 10
  • [Bednarek et al., 2000] Bednarek A.K., Laflin K.J., Daniel R.L. WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. Cancer Res. 2000;60:2140-2145. 8
  • [Bednarek et al., 2001] Bednarek A.K., Keck-Waggoner C.L., Daniel R.L. WWOX, the FRA16D gene, behaves as a suppressor of tumor growth. Cancer Res. 2001;61:8068-8073. 22
  • [Ben-Salem et al., 2015] Ben-Salem S., Al-Shamsi A.M., John A. A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy. J Mol Neurosci. 2015;56:17-23. 1
  • [Chen et al., 2004] Chen S.T., Chuang J.I., Wang J.P. Expression of WW domain-containing oxidoreductase WOX1 in the developing murine nervous system. Neuroscience. 2004;124:831-839. 4
  • [Del Mare et al., 2009] Del Mare S., Salah Z., Aqeilan R.I. WWOX: its genomics, partners, and functions. J Cell Biochem. 2009;108:737-745. 4
  • [Ehaideb et al., 2018] Ehaideb S.N., Al-Bu Ali M.J., Al-Obaid J.J. Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: report and review. Transl Neurosci. 2018;9:203-208.
  • [Gribaa et al., 2007] Gribaa M., Salih M., Anheim M. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Brain. 2007;130:1921-1928. 7
  • [Mallaret et al., 2014] Mallaret M., Synofzik M., Lee J. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411-419. 2
  • [Mignot et al., 2015] Mignot C., Lambert L., Pasquier L. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. J Med Genet. 2015;52:61-70. 1
  • [Tabarki et al., 2015] Tabarki B., Al Mutairi F., Al Hashem A. The fragile site WWOX gene and the developing brain. Exp Biol Med (Maywood). 2015;240:400-402. 3
  • [Tanna and Aqeilan, 2018] Tanna M., Aqeilan R.I. Modeling WWOX loss of function in vivo: what have we learned? Front Oncol. 2018;8:420.