PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy

Proline-rich transmembrane protein 2 (PRRT2) was confirmed as the causative gene of paroxysmal kinesigenic dyskinesia (PKD) as shown by genome-wide linkage analyses. PRRT2 mutations are also associated with benign familial infantile seizures, infantile convulsions and choreoathetosis, and childhood...

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Detalles Bibliográficos
Autores principales: Motoyama, Rie, Matsudaira, Takashi, Terada, Kiyohito, Usui, Naotaka, Yoshiura, Koh-ichiro, Takahashi, Yukitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194843/
https://www.ncbi.nlm.nih.gov/pubmed/35712060
http://dx.doi.org/10.1016/j.ebr.2022.100554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194843/
https://www.ncbi.nlm.nih.gov/pubmed/35712060
http://dx.doi.org/10.1016/j.ebr.2022.100554

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