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Article

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Brain : a journal of neurology - 1 Oct 2017

Alcantara Diana, Timms Andrew E, Gripp Karen, Baker Laura, Park Kaylee, Collins Sarah, Cheng Chi, Stewart Fiona, Mehta Sarju G, Saggar Anand, Sztriha László, Zombor Melinda, Caluseriu Oana, Mesterman Ronit, Van Allen Margot I, Jacquinet Adeline, Ygberg Sofia, Bernstein Jonathan A, Wenger Aaron M, Guturu Harendra, Bejerano Gill, Gomez-Ospina Natalia, Lehman Anna, Alfei Enrico, Pantaleoni Chiara, Conti Valerio, Guerrini Renzo, Moog Ute, Graham John M, Hevner Robert, Dobyns William B, O'Driscoll Mark, Mirzaa Ghayda M

Abstract excerpt

Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28969385
DOI: 10.1093/brain/awx203
PMCID: PMC6080423

Genes

AKT3
MTOR
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.PMID 28969385Read ↗

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.Semantic proximity Read ↗

Phenotype and genotype of AKT3-related disorders.Semantic proximity Read ↗

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.Semantic proximity Read ↗

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.Semantic proximity Read ↗

A spectrum of AKT3 activating mutations cause focal malformations of cortical development (FMCDs) in cortical organoids.Semantic proximity Read ↗

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Semantic proximity Read ↗

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.Semantic proximity Read ↗

The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.Semantic proximity Read ↗

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephalySemantic proximity Read ↗

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read ↗

Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.Semantic proximity Read ↗

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Semantic proximity Read ↗

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