Associated Papers
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.
Miyamoto Y et al.
Journal of Human Genetics, 2025
The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.
Wang X et al.
Scientific Reports, 2025
A spectrum of AKT3 activating mutations cause focal malformations of cortical development (FMCDs) in cortical organoids.
Xu Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M et al.
Genes, Chromosomes & Cancer, 2023
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Bolli A et al.
American Journal of Medical Genetics. Part A, 2023
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D et al.
Brain : a Journal of Neurology, 2017
A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2017
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y et al.
Bmc Medical Genetics, 2017
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
Harada A et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2015
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
Nellist M et al.
Molecular Genetics and Metabolism, 2015
AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.
Nakamura K et al.
Clinical Genetics, 2014
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