Dravet syndrome: Insights from in vitro experimental models

Massimo Mantegazza

Research output: Contribution to journalArticlepeer-review

Abstract

Dravet syndrome is caused mainly by mutations of voltage-gated Na + channels (most of them targeting Na V1.1) and in few cases by mutations of γ-aminobutyric acid (GABA) A receptor γ2 subunit. In vitro functional analysis has provided important information about the pathogenic mechanism of these mutations, which is in most cases consistent with reduced GABAergic inhibition and consequent hyperexcitability of neuronal circuits. However, interpretative difficulties have arisen, limiting the exploitation of the data generated with some in vitro experimental systems. I will review the functional studies of Dravet syndrome mutations that have been performed in vitro, highlighting the interpretative difficulties and the possible use of these data in the clinical practice.

Original languageEnglish
Pages (from-to)62-69
Number of pages8
JournalEpilepsia
Volume52
Issue numberSUPPL. 2
DOIs
Publication statusPublished - Apr 2011

Keywords

  • Epilepsy
  • Excitability
  • GABA
  • GEFS+
  • SMEI
  • Sodium channel

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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