Protocolo diagnóstico de las parálisis periódicas

  1. Yusta Izquierdo, A. 1
  2. Hernández Ramírez, M.R. 1
  3. González Gómez, M.H. 1
  1. 1 Servicio de Neurología, Hospital Universitario de Guadalajara, Guadalajara, España Facultad de Medicina, Universidad de Alcalá, Alcalá de Henares, Madrid, España
Journal:
Medicine: Programa de Formación Médica Continuada Acreditado

ISSN: 0304-5412

Year of publication: 2023

Issue Title: Enfermedades del sistema nervioso (VIII): Neuropatías y enfermedades neuromusculares

Series: 13

Issue: 77

Pages: 4596-4600

Type: Article

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More publications in: Medicine: Programa de Formación Médica Continuada Acreditado

Abstract

Current molecular technology has shown that there are mutations in multiple voltage-dependent ion channels. The most frequent mutations are those which affect sodium channels (hyperkalaemic periodic paralysis, paramyotonia congenita, potassium-aggravated myotonia, etc.), potassium channels (Andersen-Tawil syndrome) and the chlorine channel (congenital myotonia). Even so much work still remains to be done to characterize the symptoms and physiopathology even more thoroughly and thereby establish more effective treatments.

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