Varaico: Literature-Extracted Genetic Variants

Gene:SV2A
Variant:p.L174Q
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SV2A

NM_014849.5:p.L174Q

Associated Papers

A missense mutation in the Hspa8 gene encoding heat shock cognate protein 70 causes neuroaxonal dystrophy in rats.

Tanaka M et al.

Frontiers in Neuroscience, 2024

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

Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations.

Luo J et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2018

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

[Function of synaptic vesicle protein 2A (SV2A) as a novel therapeutic target for epilepsy].

Tokudome K et al.

Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."