A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia
نویسندگان
چکیده
منابع مشابه
Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
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Objective(s) In this study, a kind of pH sensitive composite membrane was prepared and drug permeation through it was investigated in terms of pH. Rationale of this study originated from the fact that a pH change which may be a result of a disease state in the body can trigger drug release. Materials and Methods Here, a kind of pH sensitive composite membrane containing different nanoparticle ...
متن کاملA Novel SCN9A Gene Mutation in a Patient with Carbamazepine-Resistant Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is an autosomal dominant disorder caused by mutation of the SCN9A gene. In most cases, the pain is relieved by carbamazepine. We report on a novel SCN9A mutation associated with carbamazepine-resistant. The proband was a 7-month-old child who suffered from typical attacks from birth onwards. Sequencing of SCN9A revealed a heterozygous c.4880T>G substitution. Ide...
متن کاملA Novel SCN9A Gene Mutation in a Patient with Carbamazepine-Resistant Paroxysmal Extreme Pain Disorder
Paroxysmal extreme pain disorder is an autosomal dominant disorder caused by mutation of the SCN9A gene. In most cases, the pain is relieved by carbamazepine. We report on a novel SCN9A mutation associated with carbamazepine-resistant. The proband was a 7-month-old child who suffered from typical attacks from birth onwards. Sequencing of SCN9A revealed a heterozygous c.4880T>G substitution. Ide...
متن کاملErythromelalgia: an endothelial disorder responsive to sodium nitroprusside.
Erythromelalgia is an unusual syndrome of painful vasodilatation. Aetiopathology is probably different in children and adults. Presentation can be severe and associated with hypertension. Dramatic benefit from infused nitroprusside suggests the disorder could represent a dysfunctional endothelium.
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2009
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.21678