Disease: Epileptic Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.030 GeneticVariation disease BEFREE Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. 28518218 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.030 Biomarker disease BEFREE Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. 28235671 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.030 GeneticVariation disease BEFREE SCN8A is the other main adult subtype found in the brain and has recently emerged as an epilepsy gene, with the first human mutation discovered in a severe epilepsy syndrome. 22905747 2012