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Article

SMC1A epilepsy syndrome: clinical data from a large international cohort.

American journal of medical genetics. Part A - 1 Jul 2024

Gibellato Elisabetta, Cianci Paola, Mariani Milena, Parma Barbara, Huisman Sylvia, Śmigiel Robert, Bisgaard Anne-Marie, Massa Valentina, Gervasini Cristina, Moretti Alex, Cattoni Alessandro, Biondi Andrea, Selicorni Angelo

Abstract excerpt

SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of...

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PMID: 38421079
DOI: 10.1002/ajmg.a.63577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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