title: Dravet syndrome: insights from in vitro experimental models.
abstract: Dravet syndrome is caused mainly by mutations of voltage-gated Na(+) channels (most of them targeting Na(V) 1.1) 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.
authors.affiliation: Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR6097, University of Nice-Sophia Antipolis, Valbonne, France. mantegazza@ipmc.cnrs.fr
authors.forename: Massimo
authors.initials: M
authors.lastname: Mantegazza
mesh_terms: D000818:Animals; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008962:Models, Theoretical; D009154:Mutation / Q000235:genetics; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels