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- The multiple facets of the SMC1A gene.Gene. 2020; 743
- X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Nat Genet. 2006; 38: 528-530
- Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement.Nat Rev Genet. 2018; 19: 649-666
- Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.Epilepsia. 2017; 58: 565-575
- De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: Expanding the phenotypic spectrum.Clin Genet. 2016; 90: 413-419
- Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.Eur J Med Genet. 2015; 58: 562-568
- Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.Am J Med Genet A. 2015; 167: 3076-3081
- Whole genome sequencing of 45 Japanese patients with intellectual disability.Am J Med Genet A. 2021; 185: 1468-1480
- Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.Epilepsia. 2017; 58: 1301-1302
Ueno H, Okada T, Kurata H, Shimazu T, Ikeda C, Imamura H, et al.A novel mutation of SMC1A in a patient with cluster seizures and mild intellectual disability.No To Hattatsu (Tokyo) 2019;51:309–13. Japanese.
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- PCDH19-related epilepsy syndrome: A comprehensive clinical review.Pediatr Neurol. 2020; 105: 3-9