Paroxysmal extreme pain disorder in family with c.3892G > T (p.Val1298Phe) in the SCN9A gene mutation – case report

BACKGROUND: To describe the clinical phenotype of paroxysmal extreme pain disorder, an autosomal dominant condition in four members in one family with the mutation NM_002977.3:c.3892G > T (p.Val1298Phe) in the SCN9A gene. Clinical examinations and details from members of one Polish family were co...

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Detalles Bibliográficos
Autores principales: Stępień, Adam, Sałacińska, Daria, Staszewski, Jacek, Durka-Kęsy, Marta, Dobrogowski, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218613/
https://www.ncbi.nlm.nih.gov/pubmed/32404070
http://dx.doi.org/10.1186/s12883-020-01770-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218613/
https://www.ncbi.nlm.nih.gov/pubmed/32404070
http://dx.doi.org/10.1186/s12883-020-01770-9

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