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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Hynes K, et al. Among authors: christodoulou j. J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752159
Rett syndrome: randomized controlled trial of L-carnitine.
Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Ellaway C, et al. Among authors: christodoulou j. J Child Neurol. 1999 Mar;14(3):162-7. doi: 10.1177/088307389901400306. J Child Neurol. 1999. PMID: 10190267 Clinical Trial.
Prolonged QT interval in Rett syndrome.
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470. Arch Dis Child. 1999. PMID: 10208957 Free PMC article.
Medium-term open label trial of L-carnitine in Rett syndrome.
Ellaway CJ, Peat J, Williams K, Leonard H, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. Brain Dev. 2001 Dec;23 Suppl 1:S85-9. doi: 10.1016/s0387-7604(01)00346-1. Brain Dev. 2001. PMID: 11738848 Clinical Trial.
570 results