Browsing by Subject "GABAA receptor mutations"
Now showing items 1-1 of 1
Epileptic encephalopathy associated human GABRB mutations disrupt GABAA receptor function and results in Lennox-Gastaut syndrome in Gabrb3+/D120N knock-in mice. (2019-04-02)Department: NeuroscienceEpileptic encephalopathies (EEs) are catastrophic childhood epilepsies with intractable seizures, developmental delays, and cognitive impairment. I determined the functional impact of five de novo GABAA receptor β subunit ...