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Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Molecular genetics and metabolism - 1 Mar 2015

Nellist Mark, Schot Rachel, Hoogeveen-Westerveld Marianne, Neuteboom Rinze F, van der Louw Elles J T M, Lequin Maarten H, Bindels-de Heus Karen, Sibbles Barbara J, de Coo René, Brooks Alice, Mancini Grazia M S

Abstract excerpt

Activating germ-line and somatic mutations in AKT3 (OMIM 611223) are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH; OMIM # 615937) and megalencephaly-capillary malformation (MCAP; OMIM # 602501). Here we report an individual with megalencephaly, polymicrogyria, refractory epilepsy, hypoglycemia and a germline AKT3 mutation. At birth, head circumference was 43 cm (5...

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Source

Identifiers

PMID: 25523067
DOI: 10.1016/j.ymgme.2014.11.018

Genes

AKT3

Variants

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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