title: From mutation to clinical presentation: mechanisms in the black box.
authors.forename: Zheng I
authors.initials: ZI
authors.lastname: Zhu
authors.forename: Colleen E
authors.initials: CE
authors.lastname: Clancy
mesh_terms: D000818:Animals; D004247:DNA / Q000737:chemistry / Q000378:metabolism; D016678:Genome; D006801:Humans; D007477:Ions; D008133:Long QT Syndrome / Q000235:genetics; D008954:Models, Biological; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010641:Phenotype; D017434:Protein Structure, Tertiary; D012964:Sodium / Q000737:chemistry; D015222:Sodium Channels / Q000737:chemistry / Q000502:physiology*; D013577:Syndrome
chemical_list: D007477:Ions; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D004247:DNA; D012964:Sodium