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...

Full description

Saved in:
Bibliographic Details
Published in:Exp Ther Med
Main Authors: He, Jialinzi, Tang, Haiyun, Liu, Chaorong, Tan, Langzi, Xiao, Wenbiao, Xiao, Bo, Long, Hongyu, Long, Lili
Format: Artigo
Language:Inglês
Published: D.A. Spandidos 2021
Subjects:
Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8005681/
https://ncbi.nlm.nih.gov/pubmed/33791013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2021.9935
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items