Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015159.pdf
Reference11 articles.
1. Gregory A, Hayflick SJ : Genetics of neurodegeneration with brain iron accumulation. Curr Neurol Neurosci Rep 2011; 11: 254–261.
2. Haack TB, Hogarth P, Kruer MC et al: Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012; 91: 1144–1149.
3. Hayflick SJ, Kruer MC, Gregory A et al: β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136: 1708–1717.
4. Saitsu H, Nishimura T, Muramatsu K et al: De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013; 45: 445–449.
5. Lin CI, Orlov I, Ruggiero AM et al: Modulation of the neuronal glutamate transporter EAAC1 by the interacting protein GTRAP3-18. Nature 2001; 410: 84–88.
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