Associated Papers
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
40950053 (PubMed )
Supplement: media-31.xlsx › sex-gene-DNMs
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
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
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS
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
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