FGF12, fibroblast growth factor 12, 2257

N. diseases: 95; N. variants: 20
Disease: Epileptic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. 29699863 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p.Arg52His, NM_004113), a mutation that has been very recently described in 7 patients with an early onset epileptic encephalopathy. 28506426 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 GeneticVariation disease BEFREE Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy. 27164707 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.430 Biomarker disease HPO