The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children

The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children

Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders.Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic PRRT2 variations in Chinese children with epilep...

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Bibliographic Details
Main Authors: Han-yu Luo, Ling-ling Xie, Si-qi Hong, Xiu-juan Li, Mei Li, Yue Hu, Jian-nan Ma, Peng Wu, Min Zhong, Min Cheng, Ting-song Li, Li Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pediatrics
Subjects:
PRRT2
genotype
phenotype
benign familial infantile epilepsy
treatment
prognosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.676616/full

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