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

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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Bibliographic Details
Main Authors: Daniel G. Calame, Isabella Herman, James J. Riviello
Format: Article
Language:English
Published: Elsevier 2021-01-01
Series:Epilepsy & Behavior Reports
Subjects:
SV2A
Levetiracetam
Epilepsy
Status epilepticus
Genetic
Online Access:http://www.sciencedirect.com/science/article/pii/S2589986420300733

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http://www.sciencedirect.com/science/article/pii/S2589986420300733

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