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Publication Detail
Neurological channelopathies.
Abstract
Inherited ion channel mutations can affect the entire nervous system. Many cause paroxysmal disturbances of brain, spinal cord, peripheral nerve or skeletal muscle function, with normal neurological development and function in between attacks. To fully understand how mutations of ion channel genes cause disease, we need to know the normal location and function of the channel subunit, consequences of the mutation for biogenesis and biophysical properties, and possible compensatory changes in other channels that contribute to cell or circuit excitability. Animal models of monogenic channelopathies increasingly help our understanding. An important challenge for the future is to determine how more subtle derangements of ion channel function, which arise from the interaction of genetic and environmental influences, contribute to common paroxysmal disorders, including idiopathic epilepsy and migraine, that share features with rare monogenic channelopathies.
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Clinical & Experimental Epilepsy
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