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

ConclusionPRRT2 mutations can be inherited or de novo, mainly inherited. The clinical spectrum ofPRRT2 mutation includes BIE, BFIE, ICCA, PKD, FS, and ECME. ThePRRT2‐related mutations contained point mutation, whole gene deletion and 16p11.2 deletions, and large microdeletion mutations mostly de novo. It is the first report ofPRRT2 mutation found in ECME. Our report expands the mutation and clinical spectrum ofPRRT2‐related epilepsy.

Source: Brain and Behavior - March 30, 2020 Category: Neurology 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 Tags: ORIGINAL RESEARCH Source Type: research