Modeling pathogenesis and treatment response in childhood absence epilepsy

Epilepsia. 2018 Jan;59(1):135-145. doi: 10.1111/epi.13962. Epub 2017 Dec 18.

Abstract

Objective: Childhood absence epilepsy (CAE) is a genetic generalized epilepsy syndrome with polygenic inheritance, with genes for γ-aminobutyric acid (GABA) receptors and T-type calcium channels implicated in the disorder. Previous studies of T-type calcium channel electrophysiology have shown genetic changes and medications have multiple effects. The aim of this study was to use an established thalamocortical computer model to determine how T-type calcium channels work in concert with cortical excitability to contribute to pathogenesis and treatment response in CAE.

Methods: The model is comprised of cortical pyramidal, cortical inhibitory, thalamocortical relay, and thalamic reticular single-compartment neurons, implemented with Hodgkin-Huxley model ion channels and connected by AMPA, GABAA , and GABAB synapses. Network behavior was simulated for different combinations of T-type calcium channel conductance, inactivation time, steady state activation/inactivation shift, and cortical GABAA conductance.

Results: Decreasing cortical GABAA conductance and increasing T-type calcium channel conductance converted spindle to spike and wave oscillations; smaller changes were required if both were changed in concert. In contrast, left shift of steady state voltage activation/inactivation did not lead to spike and wave oscillations, whereas right shift reduced network propensity for oscillations of any type.

Significance: These results provide a window into mechanisms underlying polygenic inheritance in CAE, as well as a mechanism for treatment effects and failures mediated by these channels. Although the model is a simplification of the human thalamocortical network, it serves as a useful starting point for predicting the implications of ion channel electrophysiology in polygenic epilepsy such as CAE.

Keywords: computer model of epilepsy; multiscale thalamocortical model; polygenic epilepsy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cerebral Cortex / physiopathology
  • Epilepsy, Absence / genetics
  • Epilepsy, Absence / pathology*
  • Epilepsy, Absence / therapy*
  • Humans
  • Ion Channels / genetics
  • Models, Biological*
  • Neural Pathways / physiopathology
  • Neurons
  • Receptors, GABA / genetics
  • Thalamus / physiopathology

Substances

  • Ion Channels
  • Receptors, GABA