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.
D'Agostino
D
D
Department of Neurology, Montreal Neurological Institute.
Bertelli
M
M
Gallo
S
S
Cecchin
S
S
Albiero
E
E
Garofalo
P G
PG
Gambardella
A
A
St Hilaire
J-M
JM
Kwiecinski
H
H
Andermann
E
E
Pandolfo
M
M
D000328:Adult; D017668:Age of Onset; D017398:Alternative Splicing / Q000235:genetics; D001921:Brain / Q000378:metabolism* / Q000503:physiopathology; D000090007:CLC-2 Chloride Channels; D002648:Child; D018118:Chloride Channels / Q000096:biosynthesis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004827:Epilepsy / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009433:Neural Inhibition / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D018079:Receptors, GABA / Q000235:genetics / Q000378:metabolism; D012640:Seizures / Q000235:genetics; D009435:Synaptic Transmission / Q000235:genetics
D000090007:CLC-2 Chloride Channels; D018118:Chloride Channels; D012333:RNA, Messenger; D018079:Receptors, GABA