Advances in genetic testing and optimization of clinical management in children and adults with epilepsy: Expert Review of Neurotherapeutics

M. Scala, A. Bianchi, F. Bisulli, A. Coppola, M. Elia, M. Trivisano, D. Pruna, T. Pippucci, L. Canafoglia, S. Lattanzi, S. Franceschetti, C. Nobile, A. Gambardella, R. Michelucci, F. Zara, P. Striano, on the behalf of Genetic Commission of Italian League Against Epilepsy (LICE)

Research output: Contribution to journalArticlepeer-review


Introduction: Epileptic disorders are a heterogeneous group of medical conditions with epilepsy as the common denominator. Genetic causes, electro-clinical features, and management significantly vary according to the specific condition. Areas covered: Relevant diagnostic advances have been achieved thanks to the advent of Next Generation Sequencing (NGS)-based molecular techniques. These revolutionary tools allow to sequence all coding (whole exome sequencing, WES) and non-coding (whole genome sequencing, WGS) regions of human genome, with a potentially huge impact on patient care and scientific research. Expert opinion: The application of these tests in children and adults with epilepsy has led to the identification of new causative genes, widening the knowledge on the pathophysiology of epilepsy and resulting in therapeutic implications. This review will explore the most recent advancements in genetic testing and provide up-to-date approaches for the choice of the correct test in patients with epilepsy. © 2020, © 2020 Informa UK Limited, trading as Taylor & Francis Group.
Original languageEnglish
Pages (from-to)251-269
Number of pages19
JournalExpert Rev. Neurother.
Issue number3
Publication statusPublished - 2020


  • antiepileptic drugs
  • Epilepsy
  • genetic testing
  • next Generation Sequencing
  • surgery
  • therapy
  • whole Exome Sequencing
  • anticonvulsive agent
  • adult
  • adverse drug reaction
  • agyria
  • Alexander disease
  • anticonvulsant therapy
  • autosomal dominant disorder
  • benign childhood epilepsy
  • brain disease
  • brain malformation
  • child
  • chromosome analysis
  • clinical feature
  • clinical study
  • cortical dysplasia
  • electroencephalogram
  • epilepsy
  • family history
  • febrile convulsion
  • frontal lobe epilepsy
  • generalized epilepsy
  • genetic screening
  • high throughput sequencing
  • human
  • human genome
  • ketogenic diet
  • laboratory test
  • lateral temporal lobe epilepsy
  • macrogyria
  • medical history
  • microgyria
  • myoclonus epilepsy
  • neuroimaging
  • neurologic examination
  • nocturnal seizure
  • patient care
  • periventricular heterotopia
  • personalized medicine
  • physical examination
  • Review
  • rolandic epilepsy
  • symptomatic epilepsy
  • tubulinopathy
  • whole exome sequencing
  • whole genome sequencing

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