Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.

ABSTRACT: Epilepsies are a group of common neurological disorders with a substantial genetic basis. Despite this, the molecular diagnosis of epilepsies remains challenging due to its heterogeneity. Studies utilizing whole-genome sequencing may provide additional insights into genetic causes of epilepsies of unknown aetiology. Whole-genome sequencing was used to evaluate a cohort of adults with unexplained developmental and epileptic encephalopathies (n = 30), for whom prior genetic tests, including whole-exome sequencing in some cases, were negative or inconclusive. Rare single nucleotide variants, insertions/deletions, copy number variants and tandem repeat expansions were analysed. Seven pathogenic or likely pathogenic single nucleotide variants, and two pathogenic deleterious copy number v

SUBMITTER: Qaiser F 

PROVIDER: S-EPMC8491034 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature