Disease: Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease BEFREE A novel de novo SCN1A missense mutation in Severe Myoclonic Epilepsy Borderland. 21114141 2010
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy. 18680191 2008
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. 18479393 2008
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN [Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]. 19070316 2008
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. 17030758 2006
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 Biomarker disease LHGDN Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. 16430863 2006
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. 16505326 2006
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease BEFREE We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood. 15944908 2005
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100 2004
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. 15263074 2004
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421 2004
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? 13129592 2003
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. 14504318 2003
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. 12837571 2003
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. 12773292 2003
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. 12083760 2002
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.400 GeneticVariation disease LHGDN Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. 11940708 2002