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Article

Defective EV-mediated transport of SHH alters neural fate specification in EPM1 epilepsy.

Science advances - 4 Sept 2026

Forero Andrea, Pravata Veronica, Pipicelli Fabrizia, Frenna Elisa, Soloperto Alessandro, Ianni Marta, Abate Natalia, Di Matteo Francesco, Bekjarova Zagorka, Canafoglia Laura, Ragona Francesca, Maccarrone Giuseppina, Pisfil Mariano Gonzalez, Wahl-Schott Christian, Cernilogar Filippo M, Eder Matthias, Di Giaimo Rossella, Cappello Silvia

Abstract excerpt

The extracellular milieu, including extracellular vesicles (EVs), plays a pivotal role in brain development. In this study, we sought to elucidate the pathogenesis of progressive myoclonus epilepsy type 1 (EPM1), a disease caused by mutations in the CSTB gene, using cerebral organoids (COs) derived from patient cells. The results demonstrate that EPM1 COs display increased electrophysiological activity and...

Read the complete abstract on PubMed

Topics

Hedgehog Proteins
Humans
Neurons
Epilepsies, Myoclonic
Organoids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Signal Transduction

Animals

Mutation

Protein Transport

Source

Open in PubMed Open full text

Identifiers

PMID: 42685196
DOI: 10.1126/sciadv.adu3955
PMCID: PMC13537273

Genes

CSTB
SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 27 Oct 2026.

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