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Article

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.

Epilepsia - 1 Jun 2026

Di Nardo Maddalena, Sardina Francesca, Pallotta Maria M, Marcos-Alcalde Iñigo, Gómez-Puertas Paulino, Rinaldo Cinzia, Krantz Ian D, Musio Antonio

Abstract excerpt

OBJECTIVE: This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene-particularly those associated with developmental and epileptic encephalopathy (DEE85)-and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease-related transcriptomic and genomic alterations. METHODS: The study analyzed transcriptomic profiles from...

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Source

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Identifiers

PMID: 41770211
DOI: 10.1002/epi.70150
PMCID: PMC13285250

Genes

SMC1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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