Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical t...

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Detalhes bibliográficos
Main Authors: Poduri, Annapurna, Evrony, Gilad D., Cai, Xuyu, Elhosary, Princess Christina, Beroukhim, Rameen, Lehtinen, Maria K., Hills, L. Benjamin, Heinzen, Erin L., Hill, Anthony, Hill, R. Sean, Barry, Brenda J., Bourgeois, Blaise F.D., Riviello, James J., Barkovich, A. James, Black, Peter M., Ligon, Keith L., Walsh, Christopher A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3460551/
https://ncbi.nlm.nih.gov/pubmed/22500628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2012.03.010
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