Journal article

Computational analysis of the R85C and R85H epilepsy mutations in Na channel beta 1 subunits

EA Thomas, R Xu, S Petrou

NEUROSCIENCE | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2007

Abstract

Mutations in Na+ channels cause a variety of epilepsy syndromes. Analysis of these mutations shows a range of simultaneous functional consequences, each of which may increase or decrease membrane excitability, making it difficult to predict the combined effect on neuron firing. This may be addressed by building mathematical models of Na+ channel gating and using them in neuron models to predict responses to natural stimuli. The R85C and R85H mutations of the beta1 subunit cause generalized epilepsy syndromes in humans, and an experimental study showed that these mutations shift steady-state activation in the negative direction, which predicts increased excitability, and shift fast inactivati..

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