Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M, Blair E, Hurles ME, Chong WK, Baldeweg T, Kurian MA, Boyd SG, Cousin MA, Raymond FL. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J Clin Invest. 2015 Apr;125(4):1670-8.

PubMed ID: 
25705886