Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease BEFREE The periodicity of cluster seizures mimicking that of PCDH19-related epilepsy may characterize SMC1A-related encephalopathy. 31185419 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE In this study we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies, for example, due to STXBP1 variants. 29023665 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE Exome sequencing has allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who do not resemble CdLS. 28548707 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. 28166369 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE Our findings suggest that loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy. 26358754 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.370 GeneticVariation disease BEFREE We review previous reports of SMC1A mutations with epilepsy. 26386245 2015