PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on br...

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Veröffentlicht in:Brain
Hauptverfasser: Jansen, Laura A., Mirzaa, Ghayda M., Ishak, Gisele E., O'Roak, Brian J., Hiatt, Joseph B., Roden, William H., Gunter, Sonya A., Christian, Susan L., Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G., Shendure, Jay, Hevner, Robert F., Dobyns, William B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4614119/
https://ncbi.nlm.nih.gov/pubmed/25722288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv045
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