Predicting the impact of sodium channel mutations in human brain disease.

Abstract excerpt

Genetic alteration of the sodium channel provides a remarkable opportunity to understand how epilepsy and its comorbidities arise from a molecular disease of excitable membranes, and a chance to create a better future for children with epileptic encephalopathy. In a single cell, the channel reliably acts as a voltage-sensitive switch, enabling axon impulse firing, whereas at a network level, it becomes a variable...

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