The neuronal channelopathies.
This review addresses the molecular and cellular mechanisms of diseases caused by inherited mutations of ion channels in neurones. Among important recent advances is the elucidation of several dominantly inherited epilepsies caused by mutations of both voltage-gated and ligand-gated ion channels. The neuronal channelopathies show evidence of phenotypic convergence; notably, episodic ataxia can be caused by mutations of either calcium or potassium channels. The channelopathies also show evidence of phenotypic divergence; for instance, different mutations of the same calcium channel gene are associated with familial hemiplegic migraine, episodic or progressive ataxia, coma and epilepsy. Future developments are likely to include the discovery of other ion channel genes associated with inherited and sporadic CNS disorders. The full range of manifestations of inherited ion channel mutations remains to be established.
Kullmann
Dimitri M
DM
Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. d.kullmann@ion.ucl.ac.uk
D000818:Animals; D002493:Central Nervous System Diseases / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D007473:Ion Channels / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D009154:Mutation / Q000235:genetics
D007473:Ion Channels