The Q390X mutation in the GABAA receptor GABRG2 has been associated with Dravet syndrome in humans. In this study, the authors generated a new genetic epileptic encephalopathy animal model, the Gabrg2+/Q390X knock-in mouse, and show that expression of this mutant protein leads to seizures, chronic accumulation and aggregation of mutant subunit protein and age-dependent neurodegeneration.
- Jing-Qiong Kang
- Wangzhen Shen
- Robert L Macdonald
