The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy.
Mutations in the voltage gated potassium channel gene KCNQ2 and the homologous gene KCNQ3 have been found to cause a rare monogenic subtype of idiopathic generalized epilepsy, the benign familial neonatal convulsions. Recently, the heteromeric KCNQ2/KCNQ3 channel was found to contribute to the native M-current, one of the most important regulators of neuronal excitability. By performing a systematic mutation scan of the coding region and an association study involving a frequent Thr752Asn substitution polymorphism, we, therefore, investigated whether allelic variation of the KCNQ2 gene confers susceptibility to common subtypes of idiopathic generalized epilepsy. Our results do not provide evidence that allelic variation of the KCNQ2 gene contributes a common and relevant effect to the pathogenesis of common subtypes of idiopathic generalized epilepsy.
Steinlein
O K
OK
Institute for Human Genetics, University of Bonn, Germany.
Stoodt
J
J
Biervert
C
C
Janz
D
D
Sander
T
T
D019943:Amino Acid Substitution; D001216:Asparagine; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D004832:Epilepsy, Absence / Q000235:genetics* / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012640:Seizures / Q000235:genetics; D013912:Threonine
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D013912:Threonine; D001216:Asparagine