title: [Neuromuscular hereditary channelopathies: non-dystrophic myotonias, paramyotonias and periodic paralysis].
abstract: BACKGROUND
  The ionic channels are complex glycoprotein structures, which cross the lipidic cellular membrane and allow the passage of electrically charged ions from one side of it to the other, thanks to the electrochemical gradient. A channelopathy is a disorder due to anomalous function of the ionic channels.
  
  
  METHODS
  In this study we analyze particularly the hereditary channelopathies with neuromuscular involvement non dystrophic myotonia, paramyotonias and periodic paralysis, and classify the clinical, physiopathological, molecular, genetic and therapeutic aspects. As far as possible we have divided the different conditions according to the channel involved, due to mutations which affect the sodium, calcium, chloride and potassium channels. We have also included neuromyotonic phenomena which are probably caused by channelopathies.
  
  
  CONCLUSIONS
  Probably it will not be long before many of the conditions considered in this article have a better physiopathological explanation, more specific diagnostic procedures and a more rational approach to treatment.
authors: Servicio de Neurología, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina. vruggieri@intramed.net.ar
authors: V L
authors: VL
authors: Ruggieri
authors: C L
authors: CL
authors: Arberas
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D020967:Myotonic Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D010245:Paralyses, Familial Periodic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D017354:Point Mutation / Q000235:genetics
chemical_list: D006023:Glycoproteins; D007473:Ion Channels