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Mercimek-Mahmutoglu S.,Pediatric Neurology and Medical Psychology | Connolly M.B.,Pediatric Neurology and Medical Psychology | Poskitt K.J.,British Columbia Childrens Hospital | Horvath G.A.,Pediatric Neurology and Medical Psychology | And 7 more authors.
Molecular Genetics and Metabolism | Year: 2010

A female heterozygous for a novel, disease causing, missense mutation in the X-linked cerebral creatine transporter (SLC6A8) gene (c.1067G > T, p.Gly356Val) presented with intractable epilepsy, mild intellectual disability and moderately reduced cerebral creatine levels. Treatment with creatine monohydrate, to enhance cerebral creatine transport, combined with l-arginine and l-glycine, to enhance cerebral creatine synthesis, resulted in complete resolution of seizures. Heterozygous SLC6A8 deficiency is a potentially treatable condition and should be considered in females with intractable epilepsy and developmental delay/intellectual disability. © 2010 Elsevier Inc. Source

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