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Mowat-Wilson syndrome presenting with fever-associated seizures Volume 19, issue 4, December 2017

  • [Babkina et al., 2016] Babkina N., Deignan J.L., Lee H. Early infantile epileptic encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Eur J Med Genet. 2016;59:70-74.
  • [Buraniqi and Moodley, 2015] Buraniqi E., Moodley M. ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome. J Child Neurol. 2015;30:32-36.
  • [Cordelli et al., 2013] Cordelli D.M., Garavelli L., Savasta S. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A. 2013;161A:273-284.
  • [Garavelli and Mainardi, 2007] Garavelli L., Mainardi P.C. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007;2:42.
  • [Garavelli et al., 2009] Garavelli L., Zollino M., Mainardi P.C. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009;149A:417-426.
  • [Mowat et al., 1998] Mowat D.R., Croaker G.D., Cass D.T. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998;35:617-623.
  • [Mundhofir et al., 2012] Mundhofir F.E., Yntema H.G., van der Burgt I., Hamel B.C., Faradz S.M., van Bon B.W. Mowat-Wilson syndrome: the first clinical and molecular report of an Indonesian patient. Case Rep Genet. 2012;2012:949507.
  • [Park et al., 2013] Park J.Y., Cho E.H., Lee E.H., Kang Y.S., Jun K.R., Hur Y.J. Mowat-Wilson syndrome detected by using high resolution microarray. Gene. 2013;532:307-309.