{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T10:15:13Z","timestamp":1742638513135,"version":"3.37.3"},"reference-count":42,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p><jats:italic>Objective<\/jats:italic>. To describe the use of an advanced genetic testing technique, whole exome sequencing, to diagnose a patient and their family with a<jats:italic>SCN9A<\/jats:italic>channelopathy.<jats:italic>Setting<\/jats:italic>. Academic tertiary care center.<jats:italic>Design<\/jats:italic>. Case report.<jats:italic>Case Report<\/jats:italic>. 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<jats:italic>SCN9A<\/jats:italic>mutation by whole exome sequencing. This mutation resulted in an<jats:italic>SCN9A<\/jats:italic>channelopathy that is most consistent with a diagnosis of paroxysmal extreme pain disorder. In addition to the patient being diagnosed, four siblings have a clinical diagnosis of<jats:italic>SCN9A<\/jats:italic>channelopathy as they have consistent symptoms and a sister with a known mutation. For treatment, gabapentin was ineffective and carbamazepine was not tolerated. Nontraditional therapies improved symptoms and constipation resolved with pelvic floor retraining with biofeedback.<jats:italic>Conclusion<\/jats:italic>. Patients with a personal and family history of chronic pain may benefit from a referral to Medical Genetics. Pelvic floor retraining with biofeedback should be considered for patients with a<jats:italic>SCN9A<\/jats:italic>channelopathy and constipation.<\/jats:p>","DOI":"10.1155\/2016\/9212369","type":"journal-article","created":{"date-parts":[[2016,7,21]],"date-time":"2016-07-21T17:01:35Z","timestamp":1469120495000},"page":"1-7","source":"Crossref","is-referenced-by-count":6,"title":["Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder"],"prefix":"10.1155","volume":"2016","author":[{"given":"Ashley","family":"Cannon","sequence":"first","affiliation":[{"name":"The Department of Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA"},{"name":"Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, 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