Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

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...

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Veröffentlicht in:	Human mutation 2020-11, Vol.41 (11), p.1999-2011
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	4-Aminopyridine - pharmacology Adult aminopyridine Autism Cognitive ability Electrophysiology Emotional behavior Epilepsy Exocytosis Exocytosis - drug effects Female Genetics & Heredity Humans Life Sciences & Biomedicine Male Membrane proteins Mutation Mutation - genetics neurodevelopmental disorder Neurotransmission Patients Science & Technology synaptic transmission Synaptic Transmission - drug effects synaptic vesicle Synaptic vesicles Synaptic Vesicles - drug effects Synaptic Vesicles - metabolism Synchronization VAMP2 Vesicle-Associated Membrane Protein 2 - genetics γ-Aminobutyric acid
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