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

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 disorder caused...

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Detalles Bibliográficos
Autores principales: Hua, Yi, Cui, Di, Han, Lin, Xu, Lu, Mao, Shanshan, Yang, Cuiwei, Gao, Feng, Yuan, Zhefeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287976/
https://www.ncbi.nlm.nih.gov/pubmed/35840956
http://dx.doi.org/10.1186/s12920-022-01302-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287976/
https://www.ncbi.nlm.nih.gov/pubmed/35840956
http://dx.doi.org/10.1186/s12920-022-01302-z

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