Mutation analysis of KCNAB1 in rolandic epilepsy

Aims: By the usage of association analyses, the EPIGEN Consortium 2007 identified two polymorphisms located in the KCNAB1 gene coding for the potassium-channel subunit Kvβ1 showing a strong association particularly with partial epilepsies. Research results show different gene mutations of the potassium-channel genes KCNQ2 and KCNQ3 in families with rolandic epilepsy. The aim of this study was to explore the involvement of KCNAB1 in pathogenesis of rolandic epilepsy.

Methods: All exons of KCNAB1 were sequenced within a group totaling 87 patients from families with rolandic epilepsy and then analyzed for genetic mutations.

Results: The collective showed merely two known polymorphisms. The RS 1551066 intronic polymorphism, which flanks exon 3, does not appear to have any impact on the splicing. The RS 2280031 variation found in exon 16 does not result in an exchange of coded amino acids. Both the heterozygous frequency and the homozygous frequency referring to the found polymorphisms are in agreement with the Hardy-Weinberg Equilibrium. The frequencies of either polymorphism taken from the analyzed collective do not differ from control peer data published earlier. It is safe to state that observed polymorphisms are irrelevant in regard to the rolandic epilepsy predisposition.

Conclusion: Within the analyzed collective, KCNAB1 does not appear to play a role in the pathogenesis of rolandic epilepsy.