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Article

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

PloS one - 1 Jan 2014

Tapper William J, Foulds Nicola, Cross Nicholas C P, Aranaz Paula, Score Joannah, Hidalgo-Curtis Claire, Robinson David O, Gibson Jane, Ennis Sarah, Temple I Karen, Collins Andrew

Abstract excerpt

Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly-hydrocephalus (MPPH), have recently been defined on the basis of physical and neuroimaging features. Subsequently, exome sequencing of ten MEG cases identified de-novo postzygotic mutations in PIK3CA which cause MCAP and de-novo mutations in AKT and PIK3R2 which cause MPPH. Here we present...

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Identifiers

PMID: 24497998
DOI: 10.1371/journal.pone.0086940
PMCID: PMC3908952

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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