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Ion channels are proteins that allow ions to cross through cells membranes. Ion flux is the source of the electric current. They have a crucial importance in diverse cellular processes. Defects in ion channels function induce pathologies named channelopathies. These diseases are often caused by mutations in genes that encode ion channels. This work examines the origin of these variables and multiples pathologies. It lists the principles channelopathies known nowadays. Secondly, it focuses on neuromuscular channelopathies that affect sodium channels. This particular case provides insights on the neuromuscular system and the different types of muscular pathologies. It’s an overview of the pathophysiology of these diseases and the symptoms, characteristics, diagnosis and treatment of some neuromuscular channelopathies. Diagnostic methods, some drugs targeting ions channels or the difficulties faced by clinical studies are discussed, together with prospects for new treatments against these still too little understood pathologies Les canaux ioniques sont des protéines qui permettent le passage d’ions à travers les membranes cellulaires. Ils ont un rôle essentiel dans la genèse des courants ioniques, et donc dans le contrôle de la plupart des processus cellulaires. Un dysfonctionnement de ces canaux ioniques, principalement suite à des mutations au niveau des gènes codant pour ces canaux, peut provoquer des pathologies : les canalopathies. Ce travail examine l’origine de ces maladies nombreuses et variées et répertorie les principales canalopathies connues à ce jour. La deuxième partie est consacrée aux canalopathies neuromusculaires et principalement à celles qui affectent les canaux sodiques. Ce cas particulier montre le fonctionnement du système neuromusculaire, les différents types de maladies musculaires et donne un aperçu de la pathophysiologie, des symptômes, caractéristiques, méthodes de diagnostic et traitements de quelques maladies. Les méthodes de diagnostic, les médicaments ciblant les canaux ioniques ou les difficultés rencontrées par les études cliniques sont évoqués, ainsi que les perspectives pour les traitements de ces pathologies pour lesquelles il reste encore beaucoup à comprendre…

Channelopathies --- Ion Channels --- Sodium Channels --- Myotonic Disorders

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Calcium channels --- Sodium channels --- Calcium --- Ion Exchange --- Sodium --- metabolism --- metabolism

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Long QT Syndrome --- Potassium Channels --- Mutation, Missense --- Long QT Syndrome --- Sodium Channels --- diagnosis --- genetics --- genetics --- genetics

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AMILORIDE --- CALCIUM CHANNELS --- SODIUM CHANNELS --- BIOLOGICAL TRANSPORT, ACTIVE --- MOLECULAR STRUCTURE-BIOLOGICAL ACTIVITY RELATIONSHIP --- CELLS, CULTURED --- AMILORIDE --- ANALOGS AND DERIVATIVES --- CALCIUM CHANNELS --- SODIUM CHANNELS --- BIOLOGICAL TRANSPORT, ACTIVE --- DRUG EFFECTS --- MOLECULAR STRUCTURE-BIOLOGICAL ACTIVITY RELATIONSHIP --- CELLS, CULTURED

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Calcium --- Ion Exchange. --- Sodium --- Exchange, Ion --- metabolism. --- Calcium channels --- Sodium channels --- Congresses. --- Ion Exchange --- Channels, Sodium --- Ion channels --- Congresses --- metabolism --- Physiological transport