BIOMAT Database Logo BIOMAT Database Logo

Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation. 2014

F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Department of Dermatology, Stanford University School of Medicine, 700 Welch Road, Suite 301; MC 5896, Palo Alto, CA, 94304, U.S.A.

UI MeSH Term Description Entries
D007007 Hypohidrosis Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions. Anhidrosis
D007223 Infant A child between 1 and 23 months of age. Infants
D012008 Recurrence The return of a sign, symptom, or disease after a remission. Recrudescence,Relapse,Recrudescences,Recurrences,Relapses
D005260 Female Females
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000699 Pain Insensitivity, Congenital A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) Analgesia, Congenital,Pain Indifference, Congenital,Channelopathy-Associated Insensitivity To Pain,Congenital Analgesia,Congenital Indifference to Pain,Congenital Insensitivity To Pain,Congenital Pain Indifference,Congenital Pain Insensitivity,Insensitivity To Pain, Congenital,Insensitivity, Congenital Pain,Congenital Pain Indifferences
D001342 Autonomic Nervous System Diseases Diseases of the AUTONOMIC NERVOUS SYSTEM, including sympathetic, parasympathetic, and enteric nervous systems. Autonomic Disorders,Central Autonomic Nervous System Diseases,Disorders of the Autonomic Nervous System,Dysautonomia,Nervous System Diseases, Autonomic,Nervous System Diseases, Parasympathetic,Nervous System Diseases, Sympathetic,Non-Familial Dysautonomia,Parasympathetic Nervous System Diseases,Peripheral Autonomic Nervous System Diseases,Sympathetic Nervous System Diseases,ANS (Autonomic Nervous System) Diseases,ANS Diseases,Autonomic Central Nervous System Diseases,Autonomic Diseases,Autonomic Nervous System Disorders,Autonomic Peripheral Nervous System Diseases,Segmental Autonomic Dysfunction,ANS Disease,Autonomic Disease,Autonomic Disorder,Autonomic Dysfunction, Segmental,Autonomic Dysfunctions, Segmental,Disorder, Autonomic,Dysautonomia, Non-Familial,Dysautonomias,Non Familial Dysautonomia,Non-Familial Dysautonomias,Segmental Autonomic Dysfunctions
D012652 Self Mutilation The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body. Autotomy Human,Self Mutilating Behavior,Autotomy Humans,Behavior, Self Mutilating,Mutilating Behavior, Self,Mutilation, Self,Self Mutilating Behaviors
D012883 Skin Ulcer An ULCER of the skin and underlying tissues. Skin Ulcers,Ulcer, Skin,Ulcers, Skin

Related Publications

F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
January 2010, Dermatology (Basel, Switzerland),
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Charcot ankle, congenital insensitivity to pain and a mutation in the SCN9A gene.
July 2022, QJM : monthly journal of the Association of Physicians,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
An SCN9A channelopathy causes congenital inability to experience pain.
December 2006, Nature,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
A novel mutation in SCN9A in a child with congenital insensitivity to pain.
January 2014, Pediatric neurology,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
January 2024, Pediatric dermatology,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.
July 2022, Pain,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.
November 2014, Pediatric neurology,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Two novel SCN9A mutations causing insensitivity to pain.
May 2009, Pain,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Labour outcomes in siblings with channelopathy associated insensitivity to pain due to bi-alleleic SCN9A mutations.
December 2012, Obstetric medicine,
F Bartholomew, and J Lazar, and A Marqueling, and C Lee-Messer, and S Jaradeh, and J M C Teng
Novel SCN9A variant associated with congenital insensitivity to pain.
July 2023, Molecular biology reports,
Copied contents to your clipboard!