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
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
Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation.
Wang D et al.
Clinical Neurology and Neurosurgery, 2019
GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.
Shimizu D et al.
Clinical Case Reports, 2018
30455927 (PubMed )
Supplement: CCR3-6-2229-s001.pdf
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