Associated Papers
The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.
Ma Q et al.
Genes & Diseases, 2024
Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
Mirzaa GM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB et al.
Nature Genetics, 2012
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice.
Tokuda S et al.
Human Molecular Genetics, 2011
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