title: Clinical relevance of defects in signalling pathways.
abstract: This review discusses seven diseases of the human nervous system that have been linked to defects in signal transduction. Recent molecular genetic analyses of rare monogenic disorders have led to the identification of mutant genes in six of the seven diseases. The molecules implicated are an enzyme (superoxide dismutase) and ion channels gated by either voltage or ligands.
authors.affiliation: Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Kraus
authors.forename: J O
authors.initials: JO
authors.lastname: McNamara
mesh_terms: D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D009154:Mutation; D009497:Neurotic Disorders / Q000235:genetics*; D015221:Potassium Channels / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics
chemical_list: D007473:Ion Channels; D015221:Potassium Channels; D015222:Sodium Channels