Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

@article{Poduri2012SomaticAO,
  title={Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations},
  author={Annapurna Poduri and Gilad D. Evrony and Xuyu Cai and Princess Christina Elhosary and Rameen Beroukhim and Maria K Lehtinen and Leonard Benjamin Hills and Erin L. Heinzen and Anthony M. Hill and Robert Sean Hill and Brenda J. Barry and Blaise F. D. Bourgeois and James Jim Riviello and A. James Barkovich and Peter M. Black and Keith L Ligon and Christopher A. Walsh},
  journal={Neuron},
  year={2012},
  volume={74},
  pages={41-48}
}
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 to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size. A third case showed… CONTINUE READING
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