Disease: Febrile Convulsions ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 GeneticVariation disease BEFREE Here, we performed a genetic screen of patients with febrile seizures and identified a novel missense mutation of SCN9A (W1150R). 31372899 2020
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 GeneticVariation disease BEFREE Phenotypes of SCN9A mutations include febrile seizures (FS), genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS), which pose challenges in clinical treatment. 30834459 2019
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 GeneticVariation disease BEFREE None of the multiplex febrile seizure or GEFS(+) families could be explained by highly penetrant SCN9A mutations. 23895530 2013
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 GeneticVariation disease BEFREE Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. 23129781 2013
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 Biomarker disease BEFREE To confirm the role of SCN9A in FS, we analyzed a collection of 92 unrelated FS patients and identified additional highly conserved Na(v)1.7 missense variants in 5% of the patients. 19763161 2009
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.150 Biomarker disease HPO