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
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
Badura-Stronka M et al.
Epilepsy Research, 2023
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
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