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Article

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

Genes - 31 Mar 2023

Bozarth Xiuhua L, Lopez Jonathan, Fang He, Lee-Eng Jacqueline, Duan Zhijun, Deng Xinxian

Abstract excerpt

The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. Pathogenic variants in SMC1A are often dominant-negative and cause Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features; however, rare SMC1A variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset...

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Identifiers

PMID: 37107610
DOI: 10.3390/genes14040852
PMCID: PMC10138066

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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