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

Epilepsy & Behavior Reports

Isabella Herman¹  Daniel G. Calame²  James J. Riviello³ 

[1] Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, United States;Corresponding author at: 6701 Fannin St, Houston, TX 77030, United States.;Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, United States;

关键词: SV2A;    Levetiracetam;    Epilepsy;    Status epilepticus;    Genetic;   

DOI  :  

来源: DOAJ

【 摘 要 】

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 binding site for the commonly used antiseizure medication levetiracetam (LEV). However, information about how rare SV2A variants influence LEV response is lacking. Here, we report a two-year-old child with new-onset epilepsy found to have a de novo heterozygous rare variant in SV2A (NM_014849.5:c.1978G>A;p.Gly660Arg) who developed refractory status epilepticus after escalation of LEV treatment for initial baseline seizure control. This report provides additional evidence that monoallelic pathogenic SV2A variants cause epilepsy and that genetic variation in SV2A could lead to paradoxical seizure worsening when treated with LEV.

【 授权许可】

Unknown