Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
case_series · Level IV
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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.
Medical subject headings
- Brain
- Chloride Channels
- Epilepsy
- Genetic Predisposition to Disease
- Mutation
- Polymorphism, Genetic