Recent Articles on SMC1A DEE.
Published Articles on SMC1A related Epilepsy.
(pulled from PubMed)
- X linked Infantile Epileptic Encephalopathy due to SMC1A Truncating Mutation
- Trans-resveratrol imparts disparate effects on transcription of DNA damage sensing/repair pathway genes in euglycemic and hyperglycemic rat testis
- Label-free proteomics uncovers SMC1A expression is Down-regulated in AUB-E
- The deacetylation-phosphorylation regulation of SIRT2-SMC1A axis as a mechanism of antimitotic catastrophe in early tumorigenesis
- Genomic Analysis of Korean Patient With Microcephaly
- Bioinformatics Analysis of Key micro-RNAs and mRNAs under the Hand, Foot, and Mouth Disease Virus Infection
- The E3 ubiquitin ligase Cul4b promotes CD4+ T cell expansion by aiding the repair of damaged DNA
- Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing
- Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome
- Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis
- Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways
- Cohesin subunit RAD21: From biology to disease
- A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy
- A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation
- Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature