title: Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype.
abstract: What is the relationship between sodium channel function, neuronal function and clinical status in channelopathies of the nervous system? Given the central role of sodium channels in the generation of neuronal activity, channelopathies involving sodium channels might be expected to cause either enhanced sodium channel function and neuronal hyperexcitability associated with positive clinical manifestations such as seizures, or attenuated channel function and neuronal hypoexcitability associated with negative clinical manifestations such as paralysis. In this article, I review observations showing that changes in neuronal function and clinical status associated with channelopathies are not necessarily predictable solely from the altered physiological properties of the mutated channel itself. I discuss evidence showing that cell background acts as a filter that can strongly influence the effects of ion channel mutations.
authors: Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine, New Haven, Connecticut 06510, USA. stephen.waxman@yale.edu
authors: Stephen G
authors: SG
authors: Waxman
mesh_terms: D000818:Animals; D053447:Channelopathies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D015640:Ion Channel Gating; D008954:Models, Biological; D009154:Mutation; D009474:Neurons / Q000473:pathology / Q000502:physiology*; D010641:Phenotype; D015222:Sodium Channels / Q000502:physiology*
chemical_list: D015222:Sodium Channels