Condition: Generalized Epilepsy With Febrile Seizures Plus, 7
rs1057518900 in
SCN1A-AS1;SCN9A gene and
Generalized Epilepsy With Febrile Seizures Plus, 7
PMID 374104 1979 Immunofluorescent and ultrastructural studies of polygonal microfilament networks in respreading non-muscle cells.
PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 25253744 2014 Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.
PMID 23149731 2012 Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
PMID 19557861 2009 A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.
rs121908913 in
SCN9A;SCN1A-AS1 gene and
Generalized Epilepsy With Febrile Seizures Plus, 7
PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
PMID 19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.