SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome

Epilepsy Behav. 2012 Mar;23(3):177-86. doi: 10.1016/j.yebeh.2011.11.022. Epub 2012 Feb 16.

Abstract

Dravet syndrome (DS) is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment. Animal studies have revealed new insights into the mechanisms by which mutations in this gene, encoding the type I voltage-gated sodium channel (Na(v)1.1), may lead to seizure activity and cognitive dysfunction. In this review, we further consider the function of fast-spiking GABAergic neurons, one cell type particularly affected by these mutations, in the context of the temporal coordination of neural activity subserving cognitive functions. We hypothesize that disruptions in GABAergic firing may directly contribute to the poor cognitive outcomes in children with DS, and discuss the therapeutic implications of this possibility.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Action Potentials / genetics
  • Cognition Disorders / etiology*
  • Epilepsies, Myoclonic* / complications
  • Epilepsies, Myoclonic* / genetics
  • Epilepsies, Myoclonic* / pathology
  • GABAergic Neurons / pathology
  • GABAergic Neurons / physiology*
  • Humans
  • Mutation / genetics*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics*
  • Neural Pathways / pathology
  • Sodium Channels / genetics*

Substances

  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels