Abstract:
:Levetiracetam (LEV), a newer antiepileptic drug (AED) useful for several epilepsy syndromes, binds to SV2A. Identifying genetic variants that influence response to LEV may allow more tailored use of LEV. Obvious candidate genes are SV2A, SV2B and SV2C, which encode the only known binding site, synaptic vesicle protein 2 (SV2), with LEV binding to the SV2A isoform. SV2A is an essential protein as homozygous SV2A knockout mice appear normal at birth but fail to grow, experience severe seizures and die by 3 weeks. We addressed characterising AED response issues in pharmacogenetics and whether variation in these genes associates with response to LEV in two independent cohorts with epilepsy. We also investigated whether variation in these three genes associated with epilepsy predisposition in two larger cohorts of patients with various epilepsy phenotypes. Common genetic variation in SV2A, encoding the actual binding site of LEV, was fully represented in this study whereas SV2B and SV2C were not fully covered. None of the polymorphisms tested in SV2A, SV2B or SV2C influence LEV response or predisposition to epilepsy. We found no association between genetic variation in SV2A, SV2B or SV2C and response to LEV or epilepsy predisposition. We suggest this study design may be used in future pharmacogenetic work examining AED or LEV efficacy. However, different study designs would be needed to examine common variation with minor effect sizes, or rare variation, influencing AED or LEV response or epilepsy predisposition.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Lynch JM,Tate SK,Kinirons P,Weale ME,Cavalleri GL,Depondt C,Murphy K,O'Rourke D,Doherty CP,Shianna KV,Wood NW,Sander JW,Delanty N,Goldstein DB,Sisodiya SMdoi
10.1016/j.eplepsyres.2008.09.003subject
Has Abstractpub_date
2009-01-01 00:00:00pages
44-51issue
1eissn
0920-1211issn
1872-6844pii
S0920-1211(08)00259-3journal_volume
83pub_type
杂志文章abstract::This investigation of cognitive functioning in patients with symptomatic localization-related (partial) epilepsy prior to administration of antiepileptic medication is part of a nationwide prospective, double-blind study of drug efficacy and longitudinal changes in cognition associated with seizure disorders. Recently...
journal_title:Epilepsy research
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/s0920-1211(97)00091-0
更新日期:1998-03-01 00:00:00
abstract:PURPOSE:The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics and the inheritance pattern. METHOD:We included a total of 25 famili...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2020.106450
更新日期:2020-11-01 00:00:00
abstract::Lithium is still the mainstay in the treatment of affective disorders as a mood stabilizer. Lithium also shows some anticonvulsant properties. While the underlying mechanisms of action of lithium are not yet exactly understood, we used a model of clonic seizure induced by pentylenetetrazole (PTZ) in male NMRI mice to ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2010.02.001
更新日期:2010-05-01 00:00:00
abstract::Uncomplicated childhood-onset epilepsy is associated with increased brain amyloid load at late middle age, but its possible association with Alzheimer-type neurodegenerative processes is unclear. After 50-year follow-up, 42 childhood onset epilepsy subjects and 45 matched controls were investigated with [18F]fluorodeo...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2017.09.006
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:To explore the association between patient-reported-outcomes measurements and costs in adult outpatients with drug refractory epilepsy (DRE) in Spain. METHODS:Secondary analysis of a cross-sectional study to determine resources utilization and related costs of refractory epilepsy in Spain (LINCE study). Cons...
journal_title:Epilepsy research
pub_type: 杂志文章,多中心研究
doi:10.1016/j.eplepsyres.2008.10.004
更新日期:2009-02-01 00:00:00
abstract::The intracarotid amobarbital procedure (IAP) was attempted in 22 pediatric epilepsy surgery candidates, ages 5-12 years old. With extra pre-test teaching and emotional preparation, adjusted amobarbital dosage for younger patients, and simplified test items tailored to the child's abilities, language and memory testing...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(93)90061-b
更新日期:1993-07-01 00:00:00
abstract::Seizure forecasting would improve the quality of life of patients with refractory epilepsy. Although early findings were optimistic, no single feature has been found capable of individually characterizing brain dynamics during transition to seizure. Cross-frequency phase amplitude coupling has been recently proposed a...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2017.11.009
更新日期:2018-01-01 00:00:00
abstract::Clinical reports suggest that the elderly are hypersensitive to the neurological effects of domoic acid (DOM). In the present study we assessed DOM-induced seizures in young and aged rats, and seizure attenuation following low-dose DOM pretreatment (i.e. preconditioning). Seizure behaviours following saline or DOM adm...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2007.07.003
更新日期:2007-09-01 00:00:00
abstract::Sodium valproate is a drug widely used for the treatment of epilepsy and mood disorders. We studied the effect of valproate on cerebral energy metabolism by incubating rat brain slices with 5 mM [3-(13)C]glutamate in the absence and the presence of 1 mM valproate. Substrate removal and product formation were measured ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.10.028
更新日期:2012-03-01 00:00:00
abstract::There is strong evidence that epileptic seizures occur in diurnal or 24-h patterns. A study in rat models of partial epilepsy showed circadian seizure patterns, and in humans circadian rhythmicity in interictal discharges has been found, suggesting that circadian rhythm may play a role in epilepsy. Circadian influence...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.01.015
更新日期:2011-05-01 00:00:00
abstract::The purpose of the study was to evaluate the efficacy and safety of topiramate (TPM) as adjunctive therapy in children, adolescents and young adults with Lennox-Gastaut syndrome (LGS). We performed a prospective open label add-on study in 45 patients (age 4-34 years, mean 15.9 years) with LGS and refractory seizures. ...
journal_title:Epilepsy research
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0920-1211(02)00103-1
更新日期:2002-09-01 00:00:00
abstract:BACKGROUND:People with epilepsy may experience an altered pattern of mortality due to cancer. We determined cancer mortality in two distinct populations with epilepsy: (i) an institutionalised cohort with severe epilepsy (SEC) and (ii) another cohort with presumed milder epilepsy (MEC). METHODS:Mortality data from 197...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.11.001
更新日期:2009-02-01 00:00:00
abstract::Recent years have witnessed an increased interest from pediatric neurologists, neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet (KD) for the management of refractory epilepsies, particularly in children and adolescents. This article summarizes current knowledge on various i...
journal_title:Epilepsy research
pub_type: 共识发展会议,杂志文章
doi:10.1016/j.eplepsyres.2005.10.003
更新日期:2006-02-01 00:00:00
abstract::Clinical practitioners have often observed in the course of their daily work that the pain thresholds of epileptic patients seem to differ from those of healthy subjects. These patients can suffer from quite severe traumatic lesions without apparently experiencing any pain. Since they are usually under treatment for e...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(92)90092-8
更新日期:1992-06-01 00:00:00
abstract::Since magnetic resonance imaging (MRI) technique is constantly evolving with higher field strength scanners, the question arises whether images from different field strength scanners can be used interchangeably for scientific and clinical purposes. We address this issue in a study group of patients with temporal lobe ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.06.012
更新日期:2008-11-01 00:00:00
abstract:PURPOSE:To analyze electroclinical features of absence seizures during sleep. PRINCIPAL RESULTS:30 children with genetic generalized epilepsy had 52 paroxysms of GSW >2s during sleep. 18/52 (35%) demonstrated a clinical sign. Ictal GSW lasted an average of 6.5s. CONCLUSION:Motor manifestations are seen during GSW>2s ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2010.12.009
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:High frequency oscillations (HFOs) have provided a new insight in understanding ictogenesis and seizure localization. In absence seizures, HFOs were predominantly localized in the medial prefrontal cortex (MPFC) in MEG studies. METHODS:We studied HFOs (80-250 Hz) in scalp EEGs in patients with absence epile...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.06.008
更新日期:2015-09-01 00:00:00
abstract:INTRODUCTION:Recent ILAE classification defined focal cortical dysplasia (FCD) patients with accompanying epileptic lesions as a separate group. We investigated data of patients with sole FCD lesions regarding long-term seizure outcome and different characteristics of FCD type 1 and type 2 patients. METHODS:Eighty chi...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2017.08.008
更新日期:2017-10-01 00:00:00
abstract::We studied the electrocorticogram (ECoG) before and immediately after transcortical selective amygdalo-hippocampectomy, prospectively in 13 consecutive patients and retrospectively in three others. ECoG was performed with surface and two depth electrodes inserted through T2 aimed at the amygdala and anterior hippocamp...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(93)90080-q
更新日期:1993-12-01 00:00:00
abstract:BACKGROUND:Idiopathic epilepsy (IE) is a syndrome that comprises epilepsy only, with no underlying structural brain lesion or other neurological signs or symptoms. Numerous studies have shown that genetic factors play an important role in IE. IE is a common disease in the Chinese Han population. However, the genetic ep...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.09.013
更新日期:2012-02-01 00:00:00
abstract:PURPOSE:To evaluate the influence of aging on the pharmacokinetics of valproic acid (VPA) at steady-state and on the susceptibility of VPA metabolism to enzyme induction by antiepileptic comedication. METHODS:The database of the therapeutic drug monitoring service of a large neurological hospital was searched to ident...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2006.04.002
更新日期:2006-08-01 00:00:00
abstract:RATIONALE:In a search for potential supplements or alternatives to the pharmacological treatment of epilepsy, we examined the effects of static magnetic fields on audiogenic seizures of DBA/2 mice. METHODS:Two strains of DBA/2 mice were subjected to auditory stimulation that resulted sequentially in wild running, loss...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(03)00109-8
更新日期:2003-06-01 00:00:00
abstract::The ideal proof-of-principle study design provides a strong efficacy signal over the shortest duration, while exposing the fewest patients possible. Data from a large database (Pfizer Inc) which studied add-on pregabalin for the treatment of partial seizures was used to model how duration of baseline, post-randomizati...
journal_title:Epilepsy research
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.eplepsyres.2013.04.008
更新日期:2013-09-01 00:00:00
abstract::Generalized epilepsy with febrile seizures plus (GEFS+) comprises a group of clinically and genetically heterogeneous epilepsy syndrome. Here, we provide the first report of clinical presentation and mutational analysis of SCN1A gene in 36 Malaysian GEFS+ patients. Mutational analysis of SCN1A gene revealed twenty sev...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2012.08.004
更新日期:2012-12-01 00:00:00
abstract::Increased excitatory amino acid transmission and decreased GABAergic inhibitory responses seem to be important mechanisms in the genesis of convulsions, where reactive oxygen species (ROS) have recently been suggested to play a critical role. Therefore, administration of antioxidants may be potentially beneficial for ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2005.08.005
更新日期:2005-08-01 00:00:00
abstract::Simultaneous electroencephalography-transcranial magnetic stimulation (EEG-TMS) investigates cortical reactivity to external perturbations. TMS evoked potentials (TEPs) have been described in normals during sleep and wake but not after sleep deprivation or in pathologically enhanced excitability, i.e., epilepsy. The a...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.05.015
更新日期:2011-09-01 00:00:00
abstract::The novel anticonvulsant, remacemide HCl [(+/-)-2-amino-N-(1-methyl-1,2-diphenylethyl)acetamide monohydrochloride; FPL12924AA], and a desglycinated metabolite [(+/-)-1-methyl-1,2-diphenylethylamine monohydrochloride; FPL 12495AA] reversibly limited sustained high-frequency repetitive firing (SRF) of sodium-dependent a...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(95)00053-4
更新日期:1996-02-01 00:00:00
abstract:PURPOSE:This study aimed to evaluate the carotid artery intima-media thickness (CA-IMT) in adult patients with epilepsy and its contribution to oxidative stress and vascular risk biomarkers. METHODS:This study included 225 adult epileptic and 60 control subjects. For all, CA-IMT, fasting lipid profile (TC, TG, HDL-c a...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2007.03.010
更新日期:2007-05-01 00:00:00
abstract::Kindling, in the classical sense, involves progressively increasing responsivity to the intermittent repetition of the same 1-s subthreshold electrical stimulation over time, with the amygdala being the area most frequently studied. Such repeated subthreshold stimulation is associated with: lowering of the after-disch...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/s0920-1211(02)00081-5
更新日期:2002-06-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to investigate regional homogeneity (ReHo) in children with new-onset drug-naïve Benign Epilepsy with Centrotemporal Spikes (BECTS), chronic BECTS and healthy controls (HC) using the Regional Homogeneity (ReHo) method applied to resting state fMRI data. METHODS:Resting state fMR...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.06.017
更新日期:2015-10-01 00:00:00