A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Nature Genetics

Volumn 45, Issue 11, 2013, Pages 1399-1407

  Leipold, Enrico ^a   Liebmann, Lutz ^b   Korenke, G Christoph ^c   Heinrich, Theresa ^b   Gießelmann, Sebastian ^b   Baets, Jonathan ^d,e,f   Ebbinghaus, Matthias ^b   Goral, R Oliver ^a   Stödberg, Tommy ^g   Hennings, J Christopher ^b   Bergmann, Markus ^h   Altmüller, Janine ⁱ   Thiele, Holger ⁱ   Wetzel, Andrea ^j   Nürnberg, Peter ^i,k,l   Timmerman, Vincent ^d,e   De Jonghe, Peter ^d,e,f   Blum, Robert ^j   Schaible, Hans Georg ^b   Weis, Joachim ^m   Heinemann, Stefan H ^a   Hübner, Christian A ^b   Kurth, Ingo ^b   more..

^a FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c KLINIKUM OLDENBURG   (Germany)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^g KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^h Hospital Bremen Mitte   (Germany)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY OF WÜRZBURG   (Germany)

^k UNIVERSITY OF COLOGNE   (Germany)

^l ATLAS BIOLABS GMBH   (Germany)

^m UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.9;

ACTION POTENTIAL; AFTERHYPERPOLARIZATION; AMINO ACID SEQUENCE; ANALGESIA (SENSORY DYSFUNCTION); ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; CHANNELOPATHY; DEPOLARIZATION; EMBRYONIC STEM CELL; EXCITATORY POSTSYNAPTIC POTENTIAL; GAIN OF FUNCTION MUTATION; GAIT DISORDER; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; IMMUNOHISTOCHEMISTRY; LETTER; MISSENSE MUTATION; MOUSE; NERVE FIBER; NERVE FIBER MEMBRANE POTENTIAL; NOCICEPTION; NONHUMAN; PAIN RECEPTOR; PRIORITY JOURNAL; SPINAL GANGLION; SYNAPTIC TRANSMISSION; TAIL FLICK TEST; THERMAL STIMULATION; TISSUE INJURY;

ACTION POTENTIALS; ANIMALS; CHANNELOPATHIES; GENE KNOCK-IN TECHNIQUES; HUMANS; MICE; MICE, INBRED C57BL; NAV1.9 VOLTAGE-GATED SODIUM CHANNEL; NOCICEPTORS; PAIN; PAIN PERCEPTION;

MUS;

EID: 84887045358     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2767     Document Type: Letter

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