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Article

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

Brain : a journal of neurology - 1 Jun 2015

Jansen Laura A, Mirzaa Ghayda M, Ishak Gisele E, O'Roak Brian J, Hiatt Joseph B, Roden William H, Gunter Sonya A, Christian Susan L, Collins Sarah, Adams Carissa, Rivière Jean-Baptiste, St-Onge Judith, Ojemann Jeffrey G, Shendure Jay, Hevner Robert F, Dobyns William B

Abstract excerpt

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable...

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Source

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Identifiers

PMID: 25722288
DOI: 10.1093/brain/awv045
PMCID: PMC4614119

Genes

PTEN
AKT3

Provenance

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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