Absence seizure with atonia in POGO mice is associated with calcium channel α1A subunit (cacna1a)

Abstract

The functional analysis of genes which concerned with epilepsy is very important for epileptogenesis as well as development of therapeutic drug. The POGO mouse showed ataxia and the pogo gene was mapped on central mouse chromosome 8. In the present study, we performed that molecular approach to the identification of a gene mutated in the POGO mouse. The results of complementation test between POGO and tottering mice definitely indicated that the POGO and tottering mice are genetically allelic. Since calcium channel α1A subunit (cacna1a) is mutated in tottering mice, expression level of cacna1a gene in POGO mice were measured by real-time PCR. Expression level of cacna1a gene in homozygous POGO mice were law compare with that of normal mouse. Results of real-time PCR agree with that of complementation test. Furthermore, we recorded electroencephalograms (EEGs) of POGO mice because tottering with a mutation at cacna1a gene show absence seizures. POGO mice exhibited 2~4 Hz spokeand wave discharge on cortical EEGs. Taken together, our results suggested that cacna1a gene mutation was the primary cause of seizure and ataxia in POGO mouse.