Article
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
Human mutation - 1 Nov 2020
Simmons Roxanne L, Li Haiyan, Alten Baris, Santos Magda S, Jiang Ruiji, Paul Brianna, Lalani Sanam J, Cortesi Audrey, Parks Kendall, Khandelwal Nitin, Smith-Packard Bethany, Phoong Malay A, Chez Michael, Fisher Heather, Scheuerle Angela E, Shinawi Marwan, Hussain Shaun A, Kavalali Ege T, Sherr Elliott H, Voglmaier Susan M
Abstract excerpt
Clinical and genetic features of five unrelated patients with de novo pathogenic variants in the synaptic vesicle-associated membrane protein 2 (VAMP2) reveal common features of global developmental delay, autistic tendencies, behavioral disturbances, and a higher propensity to develop epilepsy. For one patient, a cognitively impaired adolescent with a de novo stop-gain VAMP2 mutation, we tested a potential...
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