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Article

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

Journal of human genetics - 1 Dec 2021

Markus Fenja, Kannengießer Annika, Näder Patricia, Atigbire Paul, Scholten Alexander, Vössing Christine, Bültmann Eva, Korenke G Christoph, Owczarek-Lipska Marta, Neidhardt John

Abstract excerpt

Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal migration is known to be associated with mutations in the doublecortin gene (DCX), the platelet-activating factor acetylhydrolase gene (PAFAH1B1), or tubulin alpha-1A...

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Identifiers

PMID: 34211111
DOI: 10.1038/s10038-021-00947-5
PMCID: PMC8612930

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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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