A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Clinical Neurology,Neurology
Reference23 articles.
1. Cotrafficking of SV2 and synaptotagmin at the synapse;Yao;J Neurosci,2010
2. The synaptic vesicle protein SV2 is a novel type of transmembrane transporter;Feany;Cell,1992
3. SV2 regulates neurotransmitter release via multiple mechanisms;Nowack;Am J Physiol Cell Physiol,2010
4. Levetiracetam inhibits neurotransmitter release associated with CICR;Fukuyama;Neurosci Lett,2012
5. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam;Lynch;PNAS,2004
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1. Structures of synaptic vesicle protein 2A and 2B bound to anticonvulsants;Nature Structural & Molecular Biology;2024-06-19
2. Structural basis for antiepileptic drugs and botulinum neurotoxin recognition of SV2A;Nature Communications;2024-04-18
3. Crystal structure of 1-(E)- [(5‑bromo-2-hydroxybenzylidene amino) pyrrolidin-2-one]: Design, synthesis and computational evaluation of a novel racetam congener for epilepsy;Journal of Molecular Structure;2024-03
4. Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy;European Journal of Human Genetics;2023-11-20
5. Genetic Factors of Reflex Epilepsies;Russian Journal of Genetics;2023-10
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