Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families

The present study was performed to investigate the clinical manifestations and pathogenic variants in three large families with autosomal dominant paroxysmal kinesigenic dyskinesia (PKD) and/or benign familial infantile epilepsy (BFIE) in China. Detailed clinical data and family history were collect...

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Detalles Bibliográficos
Autores principales: He, Jialinzi, Tang, Haiyun, Liu, Chaorong, Tan, Langzi, Xiao, Wenbiao, Xiao, Bo, Long, Hongyu, Long, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005681/
https://www.ncbi.nlm.nih.gov/pubmed/33791013
http://dx.doi.org/10.3892/etm.2021.9935

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8005681/
https://www.ncbi.nlm.nih.gov/pubmed/33791013
http://dx.doi.org/10.3892/etm.2021.9935

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