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Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation Volume 17, issue 4, December 2015

  • [Haack et al., 2012] Haack T., Hogarth P., Kruer M. Exome sequencing reveals mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012;91:1144-1149. de novo WDR45
  • [Haack et al., 2013] Haack T.B., Hogarth P., Gregory A. BPAN: the only X-linked dominant NBIA disorder. Int Rev Neurobiol. 2013;110:85-90.
  • [Hayflick et al., 2013] Hayflick S., Kruer M., Gregory A. Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013;136:1708-1717. 6
  • [Horvath, 2013] Horvath R. Brain iron takes off: a new propeller protein links neurodegeneration with autophagy. Brain. 2013;136:1687-1691. 6
  • [Kossoff et al., 2002] Kossoff E.H., Pyzik P., McGrogan J. Efficacy of the ketogenic diet for infantile spasms. Pediatrics. 2002;109:780-783. 5
  • [Michaud et al., 2014] Michaud J.L., Lachance M., Hamdan F.F. The genetic landscape of infantile spasms. Hum Mol Genet. 2014;23:4846-4858. 18
  • [Pires et al., 2013] Pires M.E., Ilea A., Bourel E. Ketogenic diet for infantile spasms refractory to first line treatments: an open prospective study. Epilepsy Res. 2013;105:189-194. 1-2
  • [Rathore et al., 2014] Rathore G., Schaaf C., Stocco A. Novel mutation of the gene causing beta-propeller protein-associated neurodegeneration. Mov Disord. 2014;29:574-575. WDR454
  • [Saitsu et al., 2013] Saitsu H., Nishimura T., Muramatsu K. mutations in the autophagy gene cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet. 2013;45. De novoWDR45 4445-9, 449e1
  • [Verhoeven et al., 2014] Verhoeven W., Egger J., Koolen D. Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. Parkinsonism Relat Disord. 2014;20:332-336. 3