Pain as a channelopathy.

Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder

UNLABELLED Objective. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a SCN9A channelopathy. Setting. Academic tertiary care center. Design. CASE REPORT Case Report. A 61-year-old female with a history of acute facial pain, chronic pain, fibromyalgia, and constipation was found to have a gain of function SCN9A m...

SCN 9 A channelopathy associated autosomal recessive Congenital

Background Congenital Indifference to Pain (CIP) is a rare condition that inhibits the ability of patients to perceive physical pain but otherwise keeps normal sensory modalities. The condition has been mapped to an autosomal recessive trait to chromosome 2q 24.3 with mutations on the SCN9A gene. Case report A 2 year old Caucasian female presented with CIP. Bite injuries, tongue wounds and unac...

Acute Paraspinal Compartment Syndrome Related to Use of Proprietary Weight Loss Product, by a Patient with Sodium Channelopathy

Paraspinal compartment syndrome is a rare cause of lower back pain that remains under-recognized and under-treated and which can result in prolonged and debilitating pain. We present the case of a young female with paramyotonia congenita due to sodium chanelopathy, who developed acute paraspinal compartment syndrome after ingestion of an ephedrine containing proprietary weight loss product. We ...

Channelopathy and Essential Needs to Search in Venomous Animals for Toxins

Channelopathy and Essential Needs to Search in Venomous Animals for Toxins