title: Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.
authors.affiliation: Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA. maggie.king@novartis.com.|Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA. maggie.king@novartis.com.
authors.forename: Margaret K
authors.initials: MK
authors.lastname: King
authors.affiliation: Department of Biophysics, Center for Molecular Biomedicine, Friedrich Schiller University Jena & Jena University Hospital, 07745, Jena, Germany.
authors.forename: Enrico
authors.initials: E
authors.lastname: Leipold
authors.affiliation: Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Goehringer
authors.affiliation: Institute of Human Genetics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.
authors.forename: Ingo
authors.initials: I
authors.lastname: Kurth
authors.affiliation: Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, USA.
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Challman
mesh_terms: D000818:Animals; D000073659:Gain of Function Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008564:Membrane Potentials / Q000235:genetics; D051379:Mice; D008817:Mice, Mutant Strains; D062558:NAV1.9 Voltage-Gated Sodium Channel / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D000699:Pain Insensitivity, Congenital / Q000235:genetics* / Q000378:metabolism; D000072417:Protein Domains
chemical_list: D062558:NAV1.9 Voltage-Gated Sodium Channel; C491886:SCN11A protein, human; C491885:Scn11a protein, mouse