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.
Subject(s)
Brain/metabolism , Chloride Channels/genetics , Epilepsy/genetics , Genetic Predisposition to Disease/genetics , Mutation/genetics , Polymorphism, Genetic/genetics , Adult , Age of Onset , Alternative Splicing/genetics , Brain/physiopathology , CLC-2 Chloride Channels , Child , Chloride Channels/biosynthesis , DNA Mutational Analysis , Electroencephalography , Epilepsy/congenital , Epilepsy/physiopathology , Ethnicity/genetics , Female , Genetic Testing , Humans , Male , Middle Aged , Neural Inhibition/genetics , Pedigree , RNA, Messenger/genetics , RNA, Messenger/metabolism , Receptors, GABA/genetics , Receptors, GABA/metabolism , Seizures/genetics , Synaptic Transmission/geneticsSubject(s)
Diagnostic Errors , Epilepsies, Partial/diagnosis , Hypoglycemia/etiology , Insulinoma/diagnosis , Pancreatic Neoplasms/diagnosis , Adult , Diagnosis, Differential , Electroencephalography , Epilepsies, Partial/etiology , Female , Humans , Hypoglycemia/diagnosis , Hypoglycemia/physiopathology , Insulinoma/complications , Insulinoma/surgery , Magnetic Resonance Imaging , Male , Middle Aged , Pancreatic Neoplasms/complications , Pancreatic Neoplasms/surgery , Paresthesia/etiology , Stereotypic Movement Disorder/etiology , Tomography, X-Ray ComputedABSTRACT
Chronic depth electrode recording has proven to be a safe and indispensable tool for the investigation of intractable seizures. Anterior callosotomy appears as an excellent palliative treatment at least in bifrontal foci. It is hoped that chronic depth electrode recording will be used more widely before callosotomy in order to establish more clearly the best indication for such a surgical procedure.
