Project

SMC1A

Role of SMC1A in ntellectual disability and pharmaco-resistant epilepsy

ITB Principal Investigator

Name

Role of SMC1A in ntellectual disability and pharmaco-resistant epilepsy

Acronym

SMC1A

Location

Pisa

Start Date

2024

End Date

2026

Funder

Associazione SMC1A Italia

Partners

-

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 ther-apeutic potential of ataluren in restoring SMC1A function and mitigating disease- related transcriptomic and genomic alterations.