A disease in which altered ion channel number, transport or gating contributes to abnormal cell function. A causal account connects measured channel behavior to cellular activity, rather than inferring mechanism from a sequence variant alone.
A skeletal-muscle excitability disorder associated with variants of CLCN1, encoding the ClC-1 chloride channel. Reduced stabilizing resting conductance can permit repetitive action potentials and delayed relaxation after contraction.
A disorder characterized by delayed ventricular repolarization and susceptibility to dangerous cardiac rhythms. Different molecular subtypes affect different ion channels; type 3 can involve persistent inward sodium current caused by impaired fast ion-channel inactivation.
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