Disease: Epilepsies, Partial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus. 30977726 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease GWASCAT Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. 30531953 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE We describe the variable clinical phenotypes that include the self-limited focal epilepsies of childhood, present in a large GEFS+ family, segregating a heterozygous SCN1A missense variant. 28192756 2017
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease GWASCAT Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. 25087078 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE Thus, we screened SCN1A mutations in 13 families with partial epilepsy with antecedent febrile seizures (PEFS+) using denaturing high-performance liquid chromatography and sequencing. 22151702 2012
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE The results of the present study indicate that the rs3812718 SNP in the SCN1A gene is significantly associated with the retention rate of CBZ monotherapy in Chinese Han patients with focal epilepsy. 22292851 2012
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. 21561445 2011
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease BEFREE Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. 18632234 2009
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.170 GeneticVariation disease LHGDN Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. 18413471 2008