Neurological channelopathies

BMJ 1998; 316 doi: https://doi.org/10.1136/bmj.316.7138.1104 (Published 11 April 1998) Cite this as: BMJ 1998;316:1104

Dysfunctional ion channels may cause many neurological diseases

  1. Michael R Rose, Consultant and honorary senior lecturer in neurology
  1. King's Neurosciences Centre, King's College Hospital, London SE5 9RS

    Disorders of ion channels (channelopathies) are increasingly being identified, making this a rapidly expanding area of neurology. Ion channel function may be controlled by changes in voltage (voltage gated), chemical interaction (ligand gated), or by mechanical perturbation. The first disorders recognised as channelopathies were the voltage gated channelopathies causing inherited muscle diseases: the non-dystrophic myotonias and familial periodic paralyses. Paramyotonia congenita is due to mutations in the gene coding for the α1 subunit of the sodium channel, while Thomsen's disease (autosomal dominant myotonia congenita) and Becker's disease (autosomal recessive myotonia congenita) are allelic disorders associated with mutations in a gene coding for skeletal muscle chloride channel. Familial hyperkalaemic periodic paralysis is due to mutations in the same sodium channel gene as that affected in paramyotonia congenita, while familial hypokalaemic periodic paralysis results from mutations in the gene coding for the α1 subunit of a skeletal muscle calcium channel.1

    The first demonstration that channelopathies could affect nerves as well as muscles …

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