Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy
Copyright policy )Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy
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.
Adult, Male, Epilepsy -- genetics, Epilepsy -- congenital, DNA Mutational Analysis, Alternative Splicing -- genetics, GABA -- genetics, Messenger -- genetics, Seizures -- genetics, Epilepsy -- physiopathology, Chloride Channels, Chloride Channels -- genetics, Receptors, Brain -- metabolism, Ethnicity, Humans, Genetic Predisposition to Disease, Mutation -- genetics, Genetic Testing, Polymorphism, Synaptic Transmission -- genetics, Age of Onset, Child, Epilepsy, GABA -- metabolism, Brain -- physiopathology, Genetic Predisposition to Disease -- genetics, Brain, Electroencephalography, Neural Inhibition, Sciences bio-médicales et agricoles, Middle Aged, Pedigree, Messenger -- metabolism, CLC-2 Chloride Channels, Alternative Splicing, Ethnic Groups -- genetics, Chloride Channels -- biosynthesis, Neural Inhibition -- genetics, Mutation, RNA, Female, Genetic -- genetics
Adult, Male, Epilepsy -- genetics, Epilepsy -- congenital, DNA Mutational Analysis, Alternative Splicing -- genetics, GABA -- genetics, Messenger -- genetics, Seizures -- genetics, Epilepsy -- physiopathology, Chloride Channels, Chloride Channels -- genetics, Receptors, Brain -- metabolism, Ethnicity, Humans, Genetic Predisposition to Disease, Mutation -- genetics, Genetic Testing, Polymorphism, Synaptic Transmission -- genetics, Age of Onset, Child, Epilepsy, GABA -- metabolism, Brain -- physiopathology, Genetic Predisposition to Disease -- genetics, Brain, Electroencephalography, Neural Inhibition, Sciences bio-médicales et agricoles, Middle Aged, Pedigree, Messenger -- metabolism, CLC-2 Chloride Channels, Alternative Splicing, Ethnic Groups -- genetics, Chloride Channels -- biosynthesis, Neural Inhibition -- genetics, Mutation, RNA, Female, Genetic -- genetics
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