P.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder

Anesthesiology

Volumn 122, Issue 2, 2015, Pages 414-423

  Suter, Marc R ^a   Bhuiyan, Zahurul A ^a   Laedermann, Cédric J ^a   Kuntzer, Thierry ^a,b   Schaller, Muriel ^b   Stauffacher, Maurice W ^b   Roulet, Eliane ^a   Abriel, Hugues ^c   Decosterd, Isabelle ^a,d   Wider, Christian ^a,b  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMITRIPTYLINE; CARBAMAZEPINE; PRAMIPEXOLE; PREGABALIN; SODIUM CHANNEL NAV1.7; DNA; SCN9A PROTEIN, HUMAN; TRICYCLIC ANTIDEPRESSANT AGENT;

ADAPTATION; ADOLESCENT; ADULT; ARTICLE; BALANCE DISORDER; CHILD; CLINICAL ARTICLE; COLD EXPOSURE; COLD SENSITIVITY; CONSCIOUSNESS DISORDER; CONTROLLED STUDY; DEPOLARIZATION; DRUG EFFECT; DRUG EFFICACY; DRUG TREATMENT FAILURE; ELECTRIC POTENTIAL; ELECTROPHYSIOLOGY; FAMILY; FEMALE; FLUSHING; GENE; GENE MUTATION; HEART ARRHYTHMIA; HOSPITALIZATION; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; LANGUAGE DISABILITY; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEWBORN; ONSET AGE; PAIN; PAROXYSMAL EXTREME PAIN SYNDROME; PATCH CLAMP TECHNIQUE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCN9A GENE; STEADY STATE; VISUAL DISORDER; WATER IMMERSION; WEAKNESS; WILD TYPE; CELL LINE; COLD; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE; PLASMID; SOMATOFORM DISORDER;

ADOLESCENT; ADULT; AMITRIPTYLINE; ANTIDEPRESSIVE AGENTS, TRICYCLIC; CELL LINE; CHILD; COLD TEMPERATURE; DNA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; NAV1.7 VOLTAGE-GATED SODIUM CHANNEL; PATCH-CLAMP TECHNIQUES; PEDIGREE; PLASMIDS; SOMATOFORM DISORDERS;

EID: 84922010407     PISSN: 00033022     EISSN: 15281175     Source Type: Journal    
DOI: 10.1097/ALN.0000000000000476     Document Type: Article

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