Associated Papers
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.
Astorino MF et al.
Genes, 2025
Epilepsy phenotype and developmental outcome in girls with mosaicism in X-linked neurodevelopmental disorders.
Carapancea E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Gil-Salvador M et al.
Scientific Reports, 2025
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
Barañano KW et al.
Journal of Child Neurology, 2022
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