Calcium channels in neurological disease.
Channels involved in the influx and intracellular mobilization of calcium have been implicated as targets of diverse genetic and immune-mediated neurological diseases. These include the L-type voltage-gated calcium channel of skeletal muscle (hypokalemic periodic paralysis), the neuronal P/Q-type voltage-gated calcium channel (familial hemiplegic migraine, episodic ataxia type 2, spinocerebellar ataxia 6, and Lambert-Eaton myasthenic syndrome), and the skeletal muscle ryanodine receptor (malignant hyperthermia and central core disease). The discovery of these and other calcium channelopathies should help to clarify how different mutations affect channel function and how altered channel function produces disease, and may lead to new treatments for these conditions.
Greenberg
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Department of Neurology, University of Pittsburgh School of Medicine, PA 15213, USA.
D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism*; D002148:Calmodulin-Binding Proteins / Q000378:metabolism; D015870:Gene Expression; D030342:Genetic Diseases, Inborn / Q000378:metabolism; D006801:Humans; D007154:Immune System Diseases / Q000378:metabolism; D009124:Muscle Proteins / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000235:genetics / Q000378:metabolism*; D019837:Ryanodine Receptor Calcium Release Channel
D015220:Calcium Channels; D002148:Calmodulin-Binding Proteins; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel