Novel mutations and phenotypes of epilepsy ‐associated genes in epileptic encephalopathies

This study highlighted the utility of targeted next‐generation sequencing in genetic diagnoses of epileptic encephalopathies and a comprehensive evaluation of the pathogenicity of variants based on ACMG scoring and assessment of clinical concordance. Epileptic encephalopathies differ in genetic causes, and the genotype–phenotype correlations would provide insights into the underlying pathogenic mechanisms.

Source: Genes, Brain and Behavior - November 1, 2017 Category: Genetics & Stem Cells Authors: Peng Zhou, Na He, Jing ‐Wen Zhang, Zhi‐Jian Lin, Jie Wang, Li‐Min Yan, Heng Meng, Bin Tang, Bing‐Mei Li, Xiao‐Rong Liu, Yi‐Wu Shi, Qiong‐Xiang Zhai, Yong‐Hong Yi, Wei‐Ping Liao Tags: ORIGINAL ARTICLE Source Type: research