Gain of function Na V1.7 mutations in idiopathic small fiber neuropathy

Annals of Neurology

Volumn 71, Issue 1, 2012, Pages 26-39

  Faber, Catharina G ^a   Hoeijmakers, Janneke G J ^a   Ahn, Hye Sook ^b,c   Cheng, Xiaoyang ^b,c   Han, Chongyang ^b,c   Choi, Jin Sung ^b,c,g   Estacion, Mark ^b,c   Lauria, Giuseppe ^d   Vanhoutte, Els K ^a   Gerrits, Monique M ^a   Dib Hajj, Sulayman ^b,c   Drenth, Joost P H ^e   Waxman, Stephen G ^b,c   Merkies, Ingemar S J ^a,f  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c VA CONNECTICUT HEALTHCARE SYSTEM   (United States)

^d IRCCS   (Italy)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Infection and Immunology   (Netherlands)

^g The Catholic University of Korea   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SODIUM CHANNEL NAV1.7;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTONOMIC DYSFUNCTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GAIN OF FUNCTION MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; IDIOPATHIC DISEASE; IDIOPATHIC SMALL FIBER NEUROPATHY; INTRAEPIDERMAL NERVE FIBER DENSITY; MALE; MISSENSE MUTATION; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; NERVE BIOPSY; NERVE CELL EXCITABILITY; NERVE CONDUCTION; NERVE FIBER; NERVOUS SYSTEM PARAMETERS; NEUROPATHIC PAIN; NEUROPATHY; PAIN ASSESSMENT; PRIORITY JOURNAL; SCHOOL CHILD; SENSORY EVALUATION; SPINAL GANGLION; TENDON REFLEX; VIBRATION; VISUAL ANALOG SCALE;

ADULT; COHORT STUDIES; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYNEUROPATHIES; QUESTIONNAIRES; SODIUM CHANNELS; YOUNG ADULT;

EID: 84856143604     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22485     Document Type: Article

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