STX1B, syntaxin 1B, 112755

N. diseases: 58; N. variants: 17
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 		0.420 GeneticVariation disease BEFREE We studied nine currently asymptomatic adult STX1B mutation carriers with history of epilepsy and febrile seizures, who had been seizure-free for at least eight years without antiepileptic drug treatment, and ten healthy age-matched controls. 29101845 2017
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.420 GeneticVariation disease BEFREE Recently, variants in the STX1B gene have been associated with a wide spectrum of fever-related epilepsies ranging from single febrile seizures to severe epileptic encephalopathies. 26818399 2016
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.420 Biomarker disease CTD_human Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. 25362483 2014
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.420 Biomarker disease HPO