Associated Papers
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.
Al-Maawali A et al.
European Journal of Human Genetics : Ejhg, 2024
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.
Bonnycastle K et al.
Journal of Neurochemistry, 2021
A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus.
Calame DG et al.
Epilepsy & Behavior Reports, 2021
An Epilepsy-Associated SV2A Mutation Disrupts Synaptotagmin-1 Expression and Activity-Dependent Trafficking.
Harper CB et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Synaptic vesicle glycoprotein 2A (SV2A) regulates kindling epileptogenesis via GABAergic neurotransmission.
Tokudome K et al.
Scientific Reports, 2016
A Missense Mutation of the Gene Encoding Synaptic Vesicle Glycoprotein 2A (SV2A) Confers Seizure Susceptibility by Disrupting Amygdalar Synaptic GABA Release.
Tokudome K et al.
Frontiers in Pharmacology, 2016
Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation.
Serajee FJ et al.
Pediatric Neurology, 2015
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