Article Text

Review
Genetic neurological channelopathies: molecular genetics and clinical phenotypes
  1. J Spillane1,2,
  2. D M Kullmann2,3,
  3. M G Hanna2,3
  1. 1Royal Free Hospital Foundation Trust London, London, UK
  2. 2MRC Centre for Neuromuscular Disease, UCL, London, UK
  3. 3UCL, Institute of Neurology, London, UK
  1. Correspondence to Professor MG Hanna, MRC Centre for Neuromuscular Diseases, P.O. Box 102, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; m.hanna{at}ucl.ac.uk

Abstract

Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies.

  • CHANNELS
  • GENETICS
  • MOLECULAR BIOLOGY

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