Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features

BACKGROUND AND OBJECTIVES: Isolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by PRRT2 variants and TMEM151A variants. Patients with proximal 16p11.2 microdeletion (16p11.2MD) (including PRRT2) often have neurodevelopmental phenotypes, whereas a few patients have PKD. Here, we aimed t...

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Detalles Bibliográficos
Autores principales: Chen, Yu-Lan, Chen, Dian-Fu, Ke, Hua-Zhen, Zhao, Shao-Yun, Li, Hong-Fu, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855691/
https://www.ncbi.nlm.nih.gov/pubmed/35187229
http://dx.doi.org/10.1212/NXG.0000000000000659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855691/
https://www.ncbi.nlm.nih.gov/pubmed/35187229
http://dx.doi.org/10.1212/NXG.0000000000000659

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