Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation-Reference-Cited by-同舟云学术

Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation

Published:2015-06 Issue:6 Volume:52 Page:642-646.e1
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Serajee Fatema J.,Huq Ahm M.

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference31 articles.

1. SV2 modulates the size of the readily releasable pool of secretory vesicles;Xu;Nat Cell Biol,2001

2. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam;Lynch;Proc Natl Acad Sci U S A,2004

3. Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A);Crowder;Proc Natl Acad Sci U S A,1999

4. No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy;Lynch;Epilepsy Res,2009

5. Rare protein sequence variation in SV2A gene does not affect response to levetiracetam;Dibbens;Epilepsy Res,2012

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. SV2A controls the surface nanoclustering and endocytic recruitment of Syt1 during synaptic vesicle recycling;Journal of Neurochemistry;2024-08

2. Structures of synaptic vesicle protein 2A and 2B bound to anticonvulsants;Nature Structural & Molecular Biology;2024-06-19

3. Structural basis for antiepileptic drugs and botulinum neurotoxin recognition of SV2A;Nature Communications;2024-04-18

4. Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation;Journal of Neurogenetics;2024-04-02

5. Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy;European Journal of Human Genetics;2023-11-20