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Article

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2015

Harada Atsuko, Miya Fuyuki, Utsunomiya Hidetsuna, Kato Mitsuhiro, Yamanaka Takumi, Tsunoda Tatsuhiko, Kosaki Kenjiro, Kanemura Yonehiro, Yamasaki Mami

Abstract excerpt

INTRODUCTION: Megalencephaly capillary malformation (MCAP) is a syndrome involving brain overgrowth, characterized by megalencephaly, capillary malformations, asymmetric growth, polymicrogyria, polydactyly, and syndactyly. Cerebellar tonsillar herniation (CTH) and ventriculomegaly are also observed in over half the patients with this syndrome. Early sudden death has been reported in MCAP, but its causes and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25416470
DOI: 10.1007/s00381-014-2589-y

Genes

AKT3
CTH

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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Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.PMID 25416470Read ↗

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