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Article

Epilepsy phenotypes associated with MAP1B-related brain malformations.

Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2021

Arya Ravindra, Spaeth Christine, Zhang Wenying

Abstract excerpt

Recently, studies on whole-exome sequencing (WES) of large cohorts of people with periventricular heterotopia (PVH) have reported an association with loss-of-function variants in the MAP1B gene. However, neurological phenotypes of these patients remain poorly characterized. Four family members with seizures beginning in early childhood were evaluated. Integrated genomic analysis with WES and microarray was...

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Identifiers

PMID: 33772511
DOI: 10.1684/epd.2021.1258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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