Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports

Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by recurrent brief episodes of dystonia, chorea, athetosis or any combination of these, without alterations of consciousness. The proline-rich transmembrane protein 2 (PRRT2) gene has been widely investigated as a causative ge...

Descripción completa

Detalles Bibliográficos
Autores principales: Fang, Jiajia, Wang, Shige, Zhao, Guohua, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184952/
https://www.ncbi.nlm.nih.gov/pubmed/32346475
http://dx.doi.org/10.3892/br.2020.1293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184952/
https://www.ncbi.nlm.nih.gov/pubmed/32346475
http://dx.doi.org/10.3892/br.2020.1293

Ejemplares similares