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Article

A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2021

Fang Hongjun, Zhang Xi, Xiao Bo, Zhang Lily, Long Hongyu

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32648047
DOI: 10.1007/s10072-020-04559-3

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

Related research

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A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.PMID 32648047Read ↗

SMC1A epilepsy syndrome: clinical data from a large international cohort.Semantic proximity Read ↗

Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant.Semantic proximity Read ↗

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Semantic proximity Read ↗

[A case of neonatal Cornelia de Lange syndrome caused by a novel variant of SMC1A gene].Semantic proximity Read ↗

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.Semantic proximity Read ↗

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.Semantic proximity Read ↗

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child].Semantic proximity Read ↗

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