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 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
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
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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