Original paper
Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment
Abstract
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 treatment strategy, enhancing...
Paper Details
Title
Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment
Published Date
Oct 1, 2020
Journal
Volume
41
Issue
11
Pages
1999 - 2011