No precision therapeutics are available for epileptic encephalopathy (EE) or Rett-like phenotypes (RTT); however, there may be a potential therapeutic use of baclofen in this population. In the overexpression animal model with EE and RTT GABBR2 mutation positive tadpoles, the addition of baclofen produced improvement in the seizure and swimming behavior; more distinct changes were noted in the EE-mutation positive tadpoles than RTT mutation positive types. It was postulated that baclofen produced this improvement by modulating GABABR-mediated inhibitory signaling. However, further studies are necessary before its routine clinical use.
GABBR2