Article
Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.
The Journal of cell biology - 2 Dec 2024
Zaidi Donia, Chinnappa Kaviya, Yigit Berfu Nur, Viola Valeria, Cifuentes-Diaz Carmen, Jabali Ammar, Uzquiano Ana, Lemesre Emilie, Perez Franck, Ladewig Julia, Ferent Julien, Ozlu Nurhan, Francis Fiona
Abstract excerpt
Subcortical heterotopia is a cortical malformation associated with epilepsy, intellectual disability, and an excessive number of cortical neurons in the white matter. Echinoderm microtubule-associated protein like 1 (EML1) mutations lead to subcortical heterotopia, associated with abnormal radial glia positioning in the cortical wall, prior to malformation onset. This perturbed distribution of proliferative cells...
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