Article ID Journal Published Year Pages File Type
9190120 EMC - Neurologie 2005 27 Pages PDF
Abstract
Voltage-gated ion channels are transmembrane proteins that allow muscular and neuronal excitability. Many diseases are associated with genetic or acquired dysfunction of these channels. Recently, the classification of these diseases has been moving from clinical descriptions to genotype and pathophysiology. The first model of channel disease in neurology was muscular. Dyskalaemic paralysis, several non dystrophic myotonic syndromes, malignant hyperthermia and some myopathies are well known genetic entities, for which doctors and caregivers are organizing into specialized networks. Neuronal diseases have also been identified: neuromyotonia, episodic ataxias, a growing number of epileptic syndromes and familial hemiplegic migraine are examples. Finally, in many neurological diseases, particularly auto-immune and degenerative diseases, there may be a pathophysiological implication for ion channels. This consideration should lead to new therapeutic targets in the future. Channel diseases are a unique model for the study of the normal and abnormal functions of the muscles and nervous system, as shown by the increasing number of publications upon the topic.
Related Topics
Life Sciences Neuroscience Neurology
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