Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.020 GeneticVariation phenotype BEFREE SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. 29625812 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.020 GeneticVariation phenotype BEFREE This report expands our knowledge of the genetic basis of migrating focal seizures of infancy to include mutations in SCN2A gene. 23988467 2013