Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01493-8.pdf
Reference9 articles.
1. Rossi R, Arjmand S, Bærentzen SL, Gjedde A, Landau AM. Synaptic vesicle glycoprotein 2A: features and functions. Front Neurosci. 2022;16:864514.
2. Nowack A, Yao J, Custer KL, Bajjalieh SM. SV2 regulates neurotransmitter release via multiple mechanisms. Am J Physiol Cell Physiol. 2010;299:C960–7.
3. Crowder KM, Gunther JM, Jones TA, Hale BD, Zhang HZ, Peterson MR, et al. Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A). Proc Natl Acad Sci USA. 1999;96:15268–73.
4. Serajee FJ, Huq AM. Homozygous mutation in synaptic vesicle glycoprotein 2A gene results in intractable epilepsy, involuntary movements, microcephaly, and developmental and growth retardation. Pediatr Neurol. 2015;52:642–6.e1.
5. Wang D, Zhou Q, Ren L, Lin Y, Gao L, Du J, et al. Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation. Clin Neurol Neurosurg. 2019;181:64–6.
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