Abstract
An increasing number of mutations in the CACNA1A gene have been identified, which are associated with a broad clinical spectrum, including familial hemiplegic migraine. Transfection studies and mouse model analyses are currently being undertaken to study the correlation between CACNA1A mutations and disease.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Brain Chemistry / genetics*
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Calcium Channels / genetics*
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Calcium Channels / metabolism
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Calcium Channels, N-Type
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Calcium Channels, P-Type
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Calcium Channels, Q-Type
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Disease Models, Animal
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Epilepsy / genetics
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Epilepsy / metabolism
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Epilepsy / physiopathology
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Humans
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Mice
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Migraine Disorders / genetics*
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Migraine Disorders / metabolism
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Migraine Disorders / physiopathology
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Mutation / genetics*
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Phenotype
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Synaptic Transmission / genetics
Substances
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CACNA1A protein, human
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Calcium Channels
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Calcium Channels, N-Type
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Calcium Channels, P-Type
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Calcium Channels, Q-Type
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voltage-dependent calcium channel (P-Q type)