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Clinical Cases and Reviews in Epilepsy

Towards precision medicine in genetic epilepsies

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The application of the precision medicine paradigm in epilepsy allows a transition from a pattern/evidence-based treatment, based on the electro-clinical phenotype, to an algorithm-based treatment, based on the genetic aetiology. Currently precision medicine strategies in epilepsy include therapies targeting defective metabolic pathways, drugs with an effect on ion channels (either openers or blockers) and agents with an inhibitory effect on the mechanistic target of rapamycin (mTOR) signaling cascade. In this narrative review examples of current recognised applications of precision medicine strategies are provided. Establishing a genetic diagnosis has implications not only for epilepsy treatment, but also for considering multi-organ involvement and adopting preventative strategies to improve outcome. There is a number of challenges, mainly related to the high complexity of genomic networks and disease biology, still to face before precision medicine can be extensively applied in epilepsy.

Vol. 3 (No. 1-4) 2018 January - December

  1. Towards precision medicine in genetic epilepsies
    Balestrini S.
  2. SCN8A-related phenotypes: an overview of the literature
    Solazzi R., Dalla Bernardina B., Darra F.
  3. Stereo-electro-encephalography and epilepsy surgery in patients with temporal lobe epilepsy and normal Magnetic Resonance Imaging
    Mariani V., Revay M., D’Orio P., Rizzi M., Pelliccia V., Nichelatti M., Bottini G., Nobili L., Tassi L., Cossu M.
  4. Seizures at adult emergency department in a tertiary hospital in Burkina Faso
    Dabilgou A.A., Dravé A., Bonkoungou P., Kyelem J.M.A., Bonkoungou A., Napon C., Kaboré J.
  5. Epilepsy with seizures induced by movement: a rare reflex epilepsy
    Boero G., Pontrelli G., Internò S.
  6. Temporal lobe epilepsy, corticobasal syndrome and mild cognitive impairment due to amyloid pathology
    Martino T., d'Orsi G., Carapelle E., Lalla A., Di Claudio M.T., Avolio C.
  7. Status epilepticus and autoimmune pancytopenia: the numerous targets of autoimmunity
    Tozzo A., Ardissone A., Canafoglia L., Casazza M, Franceschetti S., Ciusani E., Granata T.
  8. CNTN2 gene: probable cause of Epileptic Encephalopathy Lennox-Gastaut like phenotype
    Prato A., Scuderi A., Garufi M., Pironti E., Cucinotta F., Lo Re E., Calabrò N., Spanò M., Sgrò D.L., Gagliano A.
  9. Epilepsy with refractory multiple seizure types in chromosome 5q14.3 deletion syndrome
    Marchese F., Vari M.S., Pinto F., Balagura A., Madia F., Capra V., Zara F., Minetti C., Striano P.
  10. Patients with epilepsy and inherited 16p11.2 microdeletions encompassing PRRT2 gene: three case reports
    Balagura G., Vignoli A., Nella Savini M., Marchese F., Vari M.S., Salpietro V., Zara F., Striano P.
  11. Ethosuximide-induced Lupus and discontinuation of carbamazepine treatment when Lupus is suspected: two paediatric cases
    Damioli S., Accorsi P., Mahmoud O., Fazzi E.M., Giordano L.
  12. Localizing value of epileptic ecstatic seizures in a patient with focal epilepsy due to temporal DNET
    Russo M., Rizzi R., Pascarella R., Zanichelli M., Bondavalli M., Valzania F.
  13. Study group on epilepsy and cerebral tumours
    Michelucci R., Aguglia U., Beghi E., Casazza M.L., Costa C., di Bonaventura C., Esposito V., Giallonardo A.T., La Neve A., Marras C.E., Maschio M., Paladin F., Pasini E., Quadri S., Striano P., Villani F., Vitali P.
  14. The Epimena Study: digital narrative methodologies for epilepsy treatment pathway personalization
    Mecarelli O., Cenci C.
  15. A prospective case-control study on risk factors for SUDEP
    Beghi E., La Neve A., Mecarelli O., Striano P., Tinuper P.
  16. Antiepileptic Drugs Commission: where we are and where do we want to go
    Russo E., La Neve A., Beghi E., Capovilla G., di Bonaventura C., Giorgi F.S., Grosso S., Iannone L., Roberti R., Romani A., Specchio L.M., Zaccara G., Iudice A.
  17. The Epilepsy and Gender Commission
    Mostacci B., Aguglia U., Bilo L., Ermio C., Galimberti C.A., Giuliano L., La Neve A., Monti G., Ranzato F., Zambrelli E.
  18. Epilepsy and headache: the contribution of the Italian study group to the new ICHD-3 classification
    Dainese F., Avanzini G., Belcastro V., La Neve A., Pruna D., Paladin F.
  19. Study Group Cannabis and Epilepsy
    Lodi M., Cannazza G., Granata T., Russo E., Santucci M., Ambrosetto G.
  20. Transition and epilepsy
    Beccaria F., Capovilla G.
  21. Dissemination of Epilepsy Surgery
    Asioli S., Barba C., Caulo M., Colicchio G., Consales A., Cossu M., De Palma L., Di Gennaro G., Marras C.E., Vatti G., Villani F., Zamponi N.
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  1. Towards precision medicine in genetic epilepsies
    Balestrini S.