Two novel SCN9A mutations causing insensitivity to pain
The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable...
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| Veröffentlicht in: | Pain (Amsterdam) 2009-05, Vol.143 (1), p.155-158 |
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| container_title | Pain (Amsterdam) |
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| creator | Nilsen, K.B. Nicholas, A.K. Woods, C.G. Mellgren, S.I. Nebuchennykh, M. Aasly, J. |
| description | The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients. |
| doi_str_mv | 10.1016/j.pain.2009.02.016 |
| format | Article |
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Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. 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Gustatory system and gustation ; Pain - genetics ; Pain Threshold ; Psychology and medicine ; Psychology. Psychoanalysis. Psychiatry ; Psychology. 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Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients.</description><subject>Biological and medical sciences</subject><subject>Channelopathy-associated insensitivity to pain</subject><subject>CIP</subject><subject>Congenital indifference to pain</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Hypesthesia - diagnosis</subject><subject>Hypesthesia - genetics</subject><subject>Illness and personality</subject><subject>Illness, stress and coping</subject><subject>Indifference to pain</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>NaV1.7</subject><subject>NAV1.7 Voltage-Gated Sodium Channel</subject><subject>Olfaction</subject><subject>Olfactory system and olfaction. Gustatory system and gustation</subject><subject>Pain - genetics</subject><subject>Pain Threshold</subject><subject>Psychology and medicine</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychology. Psychophysiology</subject><subject>SCN9A</subject><subject>Sodium Channels - genetics</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>0304-3959</issn><issn>1872-6623</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtOwzAQRS0EoqXwAyxQNrBL8CtxLLFBFS-pggVlbTm2g1wlTomdov49jhrBjtWMZs7MvboAXCKYIYiK2022ldZlGEKeQZzF0RGYo5LhtCgwOQZzSCBNCc_5DJx5v4EQYoz5KZghHjeEkzlg6-8ucd3ONMn78pXfJ-0QZLCd84mSg7fuM7HOG-dtsDsb9knoklH1HJzUsvHmYqoL8PH4sF4-p6u3p5fl_SpVFPKQ1qxiCCGNVJnrSmOda1RQoyQuo22DeIkpgZpRqkta0YpjGfuqzJHmrMglWYCbw99t330NxgfRWq9M00hnusGLgiEMC8wiiA-g6jvve1OLbW9b2e8FgmKMS2zEaFyMcQmIRRzFo6vp-1C1Rv-dTPlE4HoCpFeyqXvplPW_HEaEs5KO6ncHzsQsdtb0witrnDLa9kYFoTv7n48fR7iG5Q</recordid><startdate>20090501</startdate><enddate>20090501</enddate><creator>Nilsen, K.B.</creator><creator>Nicholas, A.K.</creator><creator>Woods, C.G.</creator><creator>Mellgren, S.I.</creator><creator>Nebuchennykh, M.</creator><creator>Aasly, J.</creator><general>Elsevier B.V</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20090501</creationdate><title>Two novel SCN9A mutations causing insensitivity to pain</title><author>Nilsen, K.B. ; Nicholas, A.K. ; Woods, C.G. ; Mellgren, S.I. ; Nebuchennykh, M. ; Aasly, J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c409t-f7b7111d1c85dbd2d5d164eca28200e1982430d744d84b4b92a744b851d9765a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Biological and medical sciences</topic><topic>Channelopathy-associated insensitivity to pain</topic><topic>CIP</topic><topic>Congenital indifference to pain</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Humans</topic><topic>Hypesthesia - diagnosis</topic><topic>Hypesthesia - genetics</topic><topic>Illness and personality</topic><topic>Illness, stress and coping</topic><topic>Indifference to pain</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>NaV1.7</topic><topic>NAV1.7 Voltage-Gated Sodium Channel</topic><topic>Olfaction</topic><topic>Olfactory system and olfaction. Gustatory system and gustation</topic><topic>Pain - genetics</topic><topic>Pain Threshold</topic><topic>Psychology and medicine</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychology. 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| subjects | Biological and medical sciences Channelopathy-associated insensitivity to pain CIP Congenital indifference to pain Female Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease - genetics Humans Hypesthesia - diagnosis Hypesthesia - genetics Illness and personality Illness, stress and coping Indifference to pain Middle Aged Mutation NaV1.7 NAV1.7 Voltage-Gated Sodium Channel Olfaction Olfactory system and olfaction. Gustatory system and gustation Pain - genetics Pain Threshold Psychology and medicine Psychology. Psychoanalysis. Psychiatry Psychology. Psychophysiology SCN9A Sodium Channels - genetics Vertebrates: nervous system and sense organs |
| title | Two novel SCN9A mutations causing insensitivity to pain |
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