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Article

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

European journal of medical genetics - 1 Dec 2018

Stutterd Chloe, McGillivray George, Stark Zornitza, Messazos Betty, Cameron Fergus, White Sue, Mirzaa Ghayda, Leventer Richard

Abstract excerpt

We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance...

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Share to Abnormalities, Multiple
Share to Class I Phosphatidylinositol 3-Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins c-akt

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Source

Identifiers

PMID: 29883676
DOI: 10.1016/j.ejmg.2018.06.002

Genes

AKT2
AKT3
CCND2

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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