A5050651881- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- Pain Mechanisms and Treatments
- Epilepsy research and treatment
- Ion Channels and Receptors
- Cardiac electrophysiology and arrhythmias
- Nicotinic Acetylcholine Receptors Study
- Genetics and Neurodevelopmental Disorders
University of Virginia Health System
2015-2019
University of Virginia
2018
European Society of Anaesthesiology
2018
Human genetic studies show that the voltage gated sodium channel 1.7 (Nav1.7) is a key molecular determinant of pain sensation. However, defining Nav1.7 contribution to nociceptive signalling has been hampered by lack selective inhibitors. Here we report two potent and arylsulfonamide inhibitors; PF-05198007 PF-05089771, which have used directly interrogate Nav1.7’s role in nociceptor physiology. We predominant functional TTX-sensitive Nav mouse human nociceptors contributes initiation...
The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage-gated sodium channel Nav1.6. More than 20% patients have recurrent in residues Arg1617 or Arg1872. Our goal was to determine functional effects these on properties.Clinical exome sequencing carried out with early-onset seizures, developmental delay, and cognitive impairment. Two identified here, p.Arg1872Leu p.Arg1872Gln, two previously mutations,...
The putative cache (Ca 2+ channel and chemotaxis receptor) domain containing 1 (CACHD1) protein has predicted structural similarities to members of the α2δ voltage-gated Ca auxiliary subunit family. CACHD1 mRNA were highly expressed in male mammalian CNS, particular thalamus, hippocampus, cerebellum, with a broadly similar tissue distribution V 3 subunits, 3.1. In expression studies, increased cell-surface localization 3.1, these proteins close proximity at cell surface, consistent formation...