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

• Egile Nagusiak: Yi Hua (Egilea), Di Cui (Egilea), Lin Han (Egilea), Lu Xu (Egilea), Shanshan Mao (Egilea), Cuiwei Yang (Egilea), Feng Gao (Egilea), Zhefeng Yuan (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2022-07-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...