Introduction: It is increasingly clear that epilepsy is genetically heterogeneous and novel gene discoveries have moved the field beyond the known contribution of ion channels to implicate chromatin remodeling, transcriptional regulation and regulation of cortical development. Although such discoveries pave the way for new therapeutics, relatively little has been written on the potential implications for treatment. We discuss the most recent advances in the field of epilepsy genetics, as facilitated by genomic technologies, and highlight several novel molecular targets and and potential novel therapeutic strategies.Areas covered: Epilepsy molecular mechanisms, genetic epilepsies, novel therapeutic approach.Expert opinion: The genetic confirmation and classification of a clinical diagnosis in an individual provides certainty in treatment decisions, prognosis, and evaluation of seizure recurrence risks and may also prevent unnecessary diagnostic investigations. The growing number of discoveries on this topic may lead to targeted therapeutic approaches in the near future. Only better understanding of mechanisms of epilepsies can result in great improvement of therapy and quality of life of patients.

Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes

ZARA, FEDERICO;MINETTI, CARLO;STRIANO, PASQUALE
2016-01-01

Abstract

Introduction: It is increasingly clear that epilepsy is genetically heterogeneous and novel gene discoveries have moved the field beyond the known contribution of ion channels to implicate chromatin remodeling, transcriptional regulation and regulation of cortical development. Although such discoveries pave the way for new therapeutics, relatively little has been written on the potential implications for treatment. We discuss the most recent advances in the field of epilepsy genetics, as facilitated by genomic technologies, and highlight several novel molecular targets and and potential novel therapeutic strategies.Areas covered: Epilepsy molecular mechanisms, genetic epilepsies, novel therapeutic approach.Expert opinion: The genetic confirmation and classification of a clinical diagnosis in an individual provides certainty in treatment decisions, prognosis, and evaluation of seizure recurrence risks and may also prevent unnecessary diagnostic investigations. The growing number of discoveries on this topic may lead to targeted therapeutic approaches in the near future. Only better understanding of mechanisms of epilepsies can result in great improvement of therapy and quality of life of patients.
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/841203
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact