Somatic activation of AKT3 causes hemispheric developmental brain malformations.
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ABSTRACT:
SUBMITTER: Poduri A
PROVIDER: S-EPMC3460551 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Publications
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri Annapurna A Evrony Gilad D GD Cai Xuyu X Elhosary Princess Christina PC Beroukhim Rameen R Lehtinen Maria K MK Hills L Benjamin LB Heinzen Erin L EL Hill Anthony A Hill R Sean RS Barry Brenda J BJ Bourgeois Blaise F D BF Riviello James J JJ Barkovich A James AJ Black Peter M PM Ligon Keith L KL Walsh Christopher A CA
Neuron 20120401 1
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 ...[more]
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