A LIFE WITHOUT PAIN: CONGENITAL INSENSITIVITY TO PAIN DUE TO COMPOUND HETEROZYGOUS SCN9A MUTATION
نویسندگان
چکیده
منابع مشابه
Insensitivity to pain due to Genetic Mutation
Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...
متن کاملInfrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia
OBJECTIVE Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia. METHODS We sequenced all exons of ...
متن کاملA Nonsense Mutation in the SCN9A Gene in Congenital Insensitivity to Pain
Background: Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. Methods: We analyzed the DNA from members of a consanguineous Paki...
متن کاملA nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
BACKGROUND Congenital insensitivity to pain (CIP) (OMIM 243000) is a rare autosomal-recessive disorder. Clinically, CIP is characterized by insensitivity to all modalities of pain except neuropathic pain, and recurrent injuries frequently go unnoticed. CIP is caused by mutations in the SCN9A gene encoding for the Na1.7 channel. METHODS We analyzed the DNA from members of a consanguineous Paki...
متن کاملCongenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
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ژورنال
عنوان ژورنال: Journal of Paediatrics and Child Health
سال: 2012
ISSN: 1034-4810
DOI: 10.1111/j.1440-1754.2012.02419.x