AKT3

Publications

Mirzaa G et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004;35(6):353-9.  PMID: 15627943.

Poduri et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012;74(1):41-8.  PMID: 22500628.

Lee J et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012;44(8):941-5.  PMID: 22729223.

Rivière JB et alDe novo germline and postzygotic mutations in AKT3, AKT3 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44(8):934-40.   PMID: 22729224.

Mirzaa G. MPPH Syndrome. In: Adam MP et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington. 2016;1993-2019.  PMID: 27854409.

Alcantara D et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017;140(10):2610-2622.  PMID: 28969385.