Ontology highlight
ABSTRACT:
SUBMITTER: He N
PROVIDER: S-EPMC6752304 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
He Na N Lin Zhi-Jian ZJ Wang Jie J Wei Feng F Meng Heng H Liu Xiao-Rong XR Chen Qian Q Su Tao T Shi Yi-Wu YW Yi Yong-Hong YH Liao Wei-Ping WP
Genetics in medicine : official journal of the American College of Medical Genetics 20180612 1
Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determining the pathogenic potential of genes in epileptic encephalopathies is critical before evaluating the pathogenicity of variants identified in an individual. We reviewed de novo variants in epileptic ...[more]