Lignani G, Raimondi A, Ferrea E, Rocchi A, Paonessa F, Cesca F, Orlando M, Tkatch T, Valtorta F, Cossette P, Baldelli P, Benfenati F.
Human Molecular Genetics, 2013
Summary:
The data in this publication indicated that imbalances in short-term plasticity due to a missense mutation in hippocampal neurons triggered network excitability. These results have implications for epilepsy and austism manifestations.
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity
