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
The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development.
Ma Q et al.
Genes & Diseases, 2024
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
Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.
Renard E et al.
American Journal of Medical Genetics. Part A, 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
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S et al.
American Journal of Medical Genetics. Part A, 2020
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
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Takagi M et al.
Journal of Human Genetics, 2018
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
Akt3 and mutant V600E B-Raf cooperate to promote early melanoma development.
Cheung M et al.
Cancer Research, 2008
Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature.
Günay Ç et al.
Annals of Indian Academy of Neurology, 0
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