Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit.

ABSTRACT: Autosomal dominant mutations S326fs328X and A322D in the GABA(A) receptor α1 subunit are associated with human absence epilepsy and juvenile myoclonic epilepsy, respectively. Because these mutations substantially reduce α1 subunit protein expression in vitro, it was hypothesized that they produce epilepsy by causing α1 subunit haploinsufficiency. However, in a mixed background strain of mice, α1 subunit deletion does not reduce viability or cause visually apparent seizures; the effects of α1 subunit deletion on electroencephalography (EEG) waveforms were not investigated. Here, we determined the effects of α1 subunit loss on viability, EEG spike-wave discharges and seizures in congenic C57BL/6J and DBA/2J mice. Deletion of α1 subunit caused strain- and sex-dependent reductions in viability

SUBMITTER: Arain FM 

PROVIDER: S-EPMC3418418 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature