Abstract
The authors analyzed the CLCN2 chloride channel gene in 112 probands with familial epilepsy, detecting 18 common polymorphisms. Two brothers with generalized epilepsy and their asymptomatic father, and a father and son with focal epilepsy carried variants of possible functional significance that were not found in 192 controls. The authors conclude that CLCN2 mutations may be a rare cause of familial epilepsy. Further studies are needed to test if polymorphisms in this gene are associated with epilepsy.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Alternative Splicing / genetics
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Brain / metabolism*
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Brain / physiopathology
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CLC-2 Chloride Channels
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Child
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Chloride Channels / biosynthesis
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Chloride Channels / genetics*
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DNA Mutational Analysis
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Electroencephalography
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Epilepsy / congenital
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Epilepsy / genetics*
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Epilepsy / physiopathology
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Ethnicity / genetics
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Female
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Neural Inhibition / genetics
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Pedigree
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Polymorphism, Genetic / genetics*
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
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Receptors, GABA / genetics
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Receptors, GABA / metabolism
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Seizures / genetics
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Synaptic Transmission / genetics
Substances
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CLC-2 Chloride Channels
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Chloride Channels
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RNA, Messenger
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Receptors, GABA