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Article

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

1 Jan 2021

Abstract excerpt

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...

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PMID: 34622207
DOI: 10.1093/braincomms/fcab207

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