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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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.
Format: Artigo
Jezik:Inglês
Izdano: 2012
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Article
Online dostop: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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