A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

• Main Authors: Yi Hua (Author), Di Cui (Author), Lin Han (Author), Lu Xu (Author), Shanshan Mao (Author), Cuiwei Yang (Author), Feng Gao (Author), Zhefeng Yuan (Author)
• Format: Book
• Published: BMC, 2022-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Paroxysmal extreme pain disorder (PEPD) is a rare autosomal dominant hereditary disease, characterized by paroxysmal burning pain in the rectum, eyes or mandible and autonomic nervous symptoms, including skin redness and bradycardia. PEPD is a sodium channel dysfunctional disorde...