TY - ADVS AU - Woods,Geoff TI - Congenital syndromes of pain and painlessness T2 - Molecular genetics of human disease, PY - 2014/// CY - London PB - Henry Stewart Talks KW - Congenital insensitivity to pain KW - Genetic disorders KW - Pain KW - Dysautonomia, Familial KW - Erythromelalgia KW - Hereditary Sensory and Autonomic Neuropathies KW - Pain Insensitivity, Congenital KW - Paroxysmal Extreme Pain Disorder N1 - Animated audio-visual presentation with synchronized narration; Title from title frames; Contents: What is pain? -- How much pain is someone suffering? -- What is the use of pain? -- Pain pathways -- Types of pain (Nociceptive, Inflammatory, Neuropathic, mixed) -- Primary erythromelalgia -- Mutations in SCN9A cause erythromelalgia -- Voltage-gated ion channels -- Paroxysmal extreme pain disorder (familial rectal pain) -- Mutations in SCN9A cause PEPD -- Congenital insensitivity to pain -- SCN9A gene map -- Electrical activity of wild type versus mutant constructs -- Low-copy number vector = pcDNA3JC -- Exon 6 splice variants -- Neuropathies HSANs -- Rita Levi Montalcini -- TRKA signalling -- Hereditary autonomic and sensory neuropathy type 4 (HSAN4) -- HSAN5 -- NGFB -- Familial dysautonomia -- Treatment of pain -- Mendelian disorders of pain; Access restricted to subscribers UR - https://hstalks.com/bs/2893/ UR - https://hstalks.com/bs/p/810/ ER -