Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
0.040 GeneticVariation disease BEFREE SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. 29625812 2018
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
0.040 GeneticVariation disease BEFREE Missense mutations in SCN2A (p.Leu1342Pro) and KCNQ2 (p.Ala306Thr) were found in two patients with no history of epilepsy before the onset of ISs. 26138355 2016
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
0.040 GeneticVariation disease BEFREE Trial of Modified Atkins Diet for other cases of infantile spasm with similar SCN2A mutations is worthwhile pursuing. 25459969 2015
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
0.040 GeneticVariation disease BEFREE The simultaneous presence of an SCN2A mutation and bitemporal hypometabolism in this patient with infantile spasms suggests a plausible hippocampal origin. 23827426 2013