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

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 Wangnull null

Published in: Molecular genetics & genomic medicine (2023)

We 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 neurodevelopmental disorders.

Keyphrases

genome wide
randomized controlled trial
quality improvement
palliative care
copy number
emergency department
dna methylation
congenital heart disease
electronic health record
smoking cessation
hepatitis c virus
human immunodeficiency virus
adverse drug
men who have sex with men
antiretroviral therapy