Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.

Canafoglia Laura Silvana Franceschetti Antonio Gambardella Pasquale StrianoAnna Teresa GiallonardoPaolo TinuperCarlo Di BonaventuraRoberto MichelucciEdoardo FerlazzoTiziana GranataAdriana MagauddaLaura LicchettaAlessandro FillaAngela La NevePatrizia RiguzziTeresa Anna CantisaniMartina FanellaBarbara CastellottiCinzia GelleraMelanie BahloFederico ZaraCarolina CourageAnna-Elina Lehesjoki Karen L Oliver Samuel Frank Berkovic

Published in: Neurology. Genetics (2021)

The application of NGS technology to unsolved patients with PME has revealed a collection of very rare genetic causes. Pathogenic variants were detected in both established PME genes and in genes not previously associated with PME, but with progressive ataxia or with developmental encephalopathies. With a diagnostic yield >80%, PME is one of the best genetically defined epilepsy syndromes.

Keyphrases

genome wide
copy number
multiple sclerosis
dna methylation
bioinformatics analysis
genome wide identification
early onset
gene expression
circulating tumor cells