Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

doi:10.1038/nn.3729

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Article

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.

Nature neuroscience - 1 Jul 2014

Kielar Michel, Tuy Françoise Phan Dinh, Bizzotto Sara, Lebrand Cécile, de Juan Romero Camino, Poirier Karine, Oegema Renske, Mancini Grazia Maria, Bahi-Buisson Nadia, Olaso Robert, Le Moing Anne-Gaëlle, Boutourlinsky Katia, Boucher Dominique, Carpentier Wassila, Berquin Patrick, Deleuze Jean-François, Belvindrah Richard, Borrell Victor, Welker Egbert, Chelly Jamel, Croquelois Alexandre, Francis Fiona

Abstract excerpt

Neuronal migration disorders such as lissencephaly and subcortical band heterotopia are associated with epilepsy and intellectual disability. DCX, PAFAH1B1 and TUBA1A are mutated in these disorders; however, corresponding mouse mutants do not show heterotopic neurons in the neocortex. In contrast, spontaneously arisen HeCo mice display this phenotype, and our study revealed that misplaced apical progenitors...

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Identifiers

PMID: 24859200
DOI: 10.1038/nn.3729

Genes

DCX
EML1

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

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