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Single cell RNA seq profile of Control and EPM1 patient's derived ventral brain organoids as single genotype or as mosaic at 40 days

ABSTRACT: This study uses single-cell RNA sequencing (scRNA-seq) to explore the pathogenesis of progressive myoclonus epilepsy type 1 (EPM1) in cerebral organoids derived from patient cells. The analysis reveals a shift in progenitor fate toward dorsal neuron identities and a reduction in inhibitory interneurons, disrupting the excitatory/inhibitory balance and increasing electrophysiological activity.

ORGANISM(S): Homo sapiens

PROVIDER: GSE282281 | GEO | 2026/09/01

REPOSITORIES: GEO

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Intrinsic and extrinsic mechanisms alter neural cell fate specification in EPM1 Epilepsy

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