Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

ABSTRACT: 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 encephalopathies, including their genotypes and functional consequences. We then evaluated the pathogenic potential of genes, with the following additional considerations: (1) recurrence of variants in unrelated cases, (2) information of previously defined phenotypes, and (3) data from genetic exper

SUBMITTER: He N 

PROVIDER: S-EPMC6752304 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature