TY - JOUR AB - 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 collected. Genomic DNA was isolated from the peripheral blood samples of all available members. The genetic diagnosis was made by whole‑exome sequencing on the three probands and the candidate variants were verified by PCR‑Sanger sequencing. The pathogenicity of variants was predicted by bioinformatics analyses and classified according to the American College of Medical Genetics criteria. A total of three causative heterozygous variants were identified in the proline‑rich transmembrane protein 2 (PRRT2) gene by DNA sequencing: A novel c.324_334del(p.Val109Argfs*21) deletion variant in Family A, as well as the previously known c.510_513del(p.Ser172Argfs*3) deletion variant in Family B and c.649dupC(p.Arg217Profs*8) duplication variant in Family C. The three variants of PRRT2 co‑segregated with the phenotype and genotype in the family members. The present results deepen the current understanding of PKD/BFIE and extend the genotypic‑phenotypic spectrum of PKD/BFIE. AD - Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China Department of Radiology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China AU - He,Jialinzi AU - Tang,Haiyun AU - Liu,Chaorong AU - Tan,Langzi AU - Xiao,Wenbiao AU - Xiao,Bo AU - Long,Hongyu AU - Long,Lili DA - 2021/05/01 DO - 10.3892/etm.2021.9935 IS - 5 JO - Exp Ther Med KW - genotypic‑phenotypic spectrum dystonia PRRT2 gene variant PY - 2021 SN - 1792-0981 1792-1015 SP - 504 ST - Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families T2 - Experimental and Therapeutic Medicine TI - Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families UR - https://doi.org/10.3892/etm.2021.9935 VL - 21 ER -