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

Genes, chromosomes & cancer - 1 Dec 2023

Luca Maria, Piglionica Marilidia, Bagnulo Rosanna, Cardaropoli Simona, Carli Diana, Turchiano Antonella, Coppo Paola, Pantaleo Antonino, Iacoviello Matteo, Ferrero Giovanni Battista, Mussa Alessandro, Resta Nicoletta

Abstract excerpt

Heterozygous germline or somatic variants in AKT3 gene can cause isolated malformations of cortical development (MCDs) such as focal cortical dysplasia, megalencephaly (MEG), Hemimegalencephaly (HME), dysplastic megalencephaly, and syndromic forms like megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation syndrome. This report describes a new case of HME and...

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PMID: 37395289
DOI: 10.1002/gcc.23188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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