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Article

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.

Journal of child neurology - 1 Apr 2022

Barañano Kristin W, Kimball Amy, Fong Susan L, Egense Alena S, Hudon Catherine, Kline Antonie D

Abstract excerpt

Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange syndrome is made clinically or on the basis of an identified variant in one of the genes associated with Cornelia de Lange syndrome. SMC1A variants are the cause of 5% of the cases of...

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PMID: 35238682
DOI: 10.1177/08830738221081244

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.PMID 35238682Read ↗

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

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.Semantic proximity Read ↗

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

Cornelia de Lange Spectrum.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 ↗

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

Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Semantic proximity Read ↗

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic 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 ↗

Cornelia de Lange Syndrome.Semantic proximity Read ↗

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