Voltage-dependent calcium channel mutations in neurological disease.

D L Burgess, J L Noebels

Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.

Annals of the New York Academy of Sciences 1999 Apr 30

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Calcium ion channel mutations disrupt channel function and create recognizable disease phenotypes in the nerv ous system. The broad array of underlying cellular alterations is commensurate with the expanding genetic diversity of the voltage-gated calcium ion channel complex and its critical role in regulating cell function. Currently, 16 calcium channel genes are known, and mutations in 7 of these are associated with distinct inherited neurological disorders. These mutations provide new insight into the structure and function of the channels, and link specific subunits to cellular disease processes, including altered excitability, synaptic signaling, and cell death. Studies of mutant channel behavior, subunit interactions, and the differentiation of neural networks demonstrate unique patterns of downstream rearrangement. Developmental analysis of molecular plasticity in these mutants is a critical step to define the intervening mechanisms that translate aberrant ion channel behavior into the diverse clinical phenotypes observed.

Citation

D L Burgess, J L Noebels. Voltage-dependent calcium channel mutations in neurological disease. Annals of the New York Academy of Sciences. 1999 Apr 30;868:199-212