Episodic ataxia and channelopathies

Brain Dev. 1998 Jan;20(1):9-13. doi: 10.1016/s0387-7604(97)00086-7.


Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the causation of some periodic neurological disorders is considered; with the expectation that further research will improve the identification of specific diseases, and lead to more effective treatment.

Publication types

  • Review

MeSH terms

  • Acetazolamide / therapeutic use
  • Ataxia / complications
  • Ataxia / drug therapy*
  • Ataxia / physiopathology*
  • Athetosis / complications
  • Athetosis / genetics
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / physiopathology
  • Chorea / complications
  • Chorea / genetics
  • Hemiplegia / drug therapy
  • Hemiplegia / genetics
  • Humans
  • Ion Channels / genetics*
  • Migraine Disorders / drug therapy
  • Migraine Disorders / genetics
  • Nervous System Diseases / genetics*
  • Time Factors


  • Ion Channels
  • Acetazolamide