FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Infantile Spasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.020 GeneticVariation disease BEFREE All of the duplication FOXG1 children with infantile spasms responded to hormonal therapy, and only one required long-term antiepileptic therapy. 24836831 2014
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.020 Biomarker disease BEFREE The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms. 21910242 2011