De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.

ABSTRACT: PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation.MethodsWe compiled and analyzed exome sequence data from 54 genetically undiagnosed trios using a validated analysis pipeline. We evaluated the significance of the genetic findings by reanalyzing sequence data generated at Ambry Genetics, and from a number of additional case and control cohorts.ResultsIn 54 previously undiagnosed trios, we identified two de novo missense variants in SCN8A in the highly expressed alternative exon 5 A-an exon only recently added to the Consensus Coding Sequence database. One additional undiagnosed epilepsy patien

SUBMITTER: Epilepsy Genetics Initiative 

PROVIDER: S-EPMC5823708 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature