Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders

ConclusionWe established a workflow allowing for a “one-stop” collaborative assessments by experts of multiple fields and helps for correct the diagnosis of cases with falsenegative and −positive and VUS genetic reports and may have significant influences for intervention, prevention and genetic counseling of pediatric epilepsy and neurodevelo pmental disorders.

Source: Molecular Genetics & Genomic Medicine - July 25, 2023 Category: Genetics & Stem Cells Authors: Liping Zhang, Xu ‐Ying Li, Fanxi Xu, Lehong Gao, Zhanjun Wang, Xianling Wang, Xian Li, Mengyu Liu, Junge Zhu, Tingyan Yao, Jing Ye, Xiao‐Hong Qi, Yaqing Wang, Guoguang Zhao, Chaodong Wang, The Xuanwu Molecular Counselling Group for Neur Tags: ORIGINAL ARTICLE Source Type: research