Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy

Abstract Background Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chinese epilepsy children. Methods A total of 492 children...

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Bibliographic Details
Main Authors: Li Yang, Cuiping You, Shiyan Qiu, Xiaofan Yang, Yufen Li, Feng Liu, Dongqing Zhang, Yue Niu, Liyun Xu, Na Xu, Xia Li, Fang Luo, Junli Yang, Baomin Li
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Brain and Behavior
Subjects:
16p11.2 deletion
copy number variants
epilepsy
myoclonic seizures
PRRT2
Online Access:https://doi.org/10.1002/brb3.1597

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