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Article

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

PLoS genetics - 1 May 2018

Heinzen Erin L, O'Neill Adam C, Zhu Xiaolin, Allen Andrew S, Bahlo Melanie, Chelly Jamel, Chen Ming Hui, Dobyns William B, Freytag Saskia, Guerrini Renzo, Leventer Richard J, Poduri Annapurna, Robertson Stephen P, Walsh Christopher A, Zhang Mengqi

Abstract excerpt

Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and identified 219 de novo variants. Although no novel genes were implicated in this initial analysis, PVNH cases were found overall to have a significant excess of...

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Identifiers

PMID: 29738522
DOI: 10.1371/journal.pgen.1007281
PMCID: PMC5965900

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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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