A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus

SV2A encodes a neuronal synaptic vesicle glycoprotein essential for neurotransmitter release. Altered SV2A function leads to epilepsy in animal models, yet only two reports of human variants have linked SV2A to syndromic drug-resistant epileptic encephalopathies and epilepsy. SV2A is also the bindin...

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Detalles Bibliográficos
Autores principales: Calame, Daniel G., Herman, Isabella, Riviello, James J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844124/
https://www.ncbi.nlm.nih.gov/pubmed/33554103
http://dx.doi.org/10.1016/j.ebr.2020.100425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7844124/
https://www.ncbi.nlm.nih.gov/pubmed/33554103
http://dx.doi.org/10.1016/j.ebr.2020.100425

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