Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

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