Condition: Neuropathy, Hereditary Sensory And Autonomic, Type IIA


rs1057518900 in SCN1A-AS1;SCN9A gene and Neuropathy, Hereditary Sensory And Autonomic, Type IIA 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 25253744 2014 Null mutation in SCN9A in which noxious stimuli can be detected in the absence of pain.

PMID 19557861 2009 A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

PMID 23149731 2012 Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

rs121908913 in SCN9A;SCN1A-AS1 gene and Neuropathy, Hereditary Sensory And Autonomic, Type IIA PMID 17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

PMID 21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

PMID 18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.

PMID 19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.

PMID 17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.

rs111033591 in WNK1 gene and Neuropathy, Hereditary Sensory And Autonomic, Type IIA PMID 15911806 2005 Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.

PMID 15060842 2004 Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.