mTOR Pathway Mutations Cause Hemimegalencephaly and Focal Cortical Dysplasia

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with FCD or HME, w...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda, Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4471336/
https://ncbi.nlm.nih.gov/pubmed/25599672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24357
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