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

• প্রধান লেখক: Han-yu Luo (লেখক), Ling-ling Xie (লেখক), Si-qi Hong (লেখক), Xiu-juan Li (লেখক), Mei Li (লেখক), Yue Hu (লেখক), Jian-nan Ma (লেখক), Peng Wu (লেখক), Min Zhong (লেখক), Min Cheng (লেখক), Ting-song Li (লেখক), Li Jiang (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...