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

• Main Authors: Han-yu Luo (Author), Ling-ling Xie (Author), Si-qi Hong (Author), Xiu-juan Li (Author), Mei Li (Author), Yue Hu (Author), Jian-nan Ma (Author), Peng Wu (Author), Min Zhong (Author), Min Cheng (Author), Ting-song Li (Author), Li Jiang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...