Abstract:
PURPOSE:To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS:Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. The diagnosis of DS was considered likely in previously healthy patients with seizures of multiple types starting before 1 year and developmental delay on follow-up. The presence of a SCN1A mutation was considered confirmatory for the diagnosis. Data such as gender, age at SE, SE clinical presentation and recurrence, additional seizure types and epilepsy diagnosis were collected. SCN1A analyses were performed in all patients, initially with High Resolution Melting Curve Analysis (HRMCA) and then by direct sequencing on selected samples with an abnormal HRMCA. Clinical and genetic findings were compared between children with DS and those with another diagnosis, and statistical methods were applied for significance analysis. RESULTS:71 children with SE were included. Ten children had DS, and 61 had another diagnosis. SCN1A mutations were found in 12 of the 71 patients (16.9%; ten with DS, and two with seizures in a Generalized Epilepsy with Febrile Seizures+(GEFS+) context). The median age at first SE was 8 months in patients with DS, and 41 months in those with another epilepsy syndrome (p<0.001). Nine of the 10 DS patients had their initial SE before 18 months. Among the 26 patients aged 18 months or less at initial SE, the risk of DS was significantly increased for patients with two or more episodes (56.3%), as compared with those who had only one episode (0.0%) (p=0.005). CONCLUSION:In a population of children with SE, patients most likely to have DS are those who present their initial SE episode before 18 months, and who present with recurrent SE episodes.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Le Gal F,Lebon S,Ramelli GP,Datta AN,Mercati D,Maier O,Combescure C,Rodriguez MI,Seeck M,Roulet E,Korff CMdoi
10.1016/j.eplepsyres.2014.02.019subject
Has Abstractpub_date
2014-05-01 00:00:00pages
740-7issue
4eissn
0920-1211issn
1872-6844pii
S0920-1211(14)00072-2journal_volume
108pub_type
杂志文章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:PURPOSE:We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations. METHOD:A retrospective, descriptive, multicenter study was conducted evaluating...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2020.106507
更新日期:2021-01-01 00:00:00
abstract::Vigabatrin increases GABA concentrations by inhibiting GABA transaminase. In previous studies, it was shown that vigabatrin increases the incidence of Spike and Wave Discharges (SWD) in the WAG/Rij rat model for absence epilepsy. Since following a single dose of vigabatrin GABA concentrations are known to be increased...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2020.106379
更新日期:2020-09-01 00:00:00
abstract:OBJECTIVE:Acetaminophen is one of the most commonly used analgesic and antipyretic drugs. It has been reported that acetaminophen has anticonvulsant effects in several animal models of seizure. An active metabolite of acetaminophen, AM404, inhibits the uptake of the endocannabinoid anandamide. However, the mechanism of...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2018.06.016
更新日期:2018-09-01 00:00:00
abstract::We aim to investigate structural brain abnormalities in juvenile myoclonic epilepsy (JME) patients with photosensitivity (PS). Sixty JME patients, 19 (32%) of whom were photosensitive, were submitted to 1.5T magnetic resonance voxel-based morphometry (VBM). The control group (CTL) consisted of 30 sex-matched healthy v...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2009.05.016
更新日期:2009-10-01 00:00:00
abstract::Biochemical studies have indicated that norepinephrine is present in lower levels in certain brain regions of genetically epilepsy-prone rats (GEPR-9s) as compared to non-epileptic Sprague-Dawley (SD) rats. In this study, the immunocytochemical localization of dopamine beta-hydroxylase (DBH), the synthesizing enzyme f...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(89)90001-6
更新日期:1989-11-01 00:00:00
abstract::Binding of valproate and palmitate to serum albumin was studied in 29 valproate-treated epileptic patients. The results were compared with similar observations in a reference group of 43 non valproate-treated individuals. The binding affinity for palmitate was decreased (P < 0.0001) resulting in increased availability...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(93)90040-e
更新日期:1993-09-01 00:00:00
abstract::Severe paediatric epilepsies such as CDKL5 Deficiency Disorder (CDD) are extremely debilitating, largely due to the early-onset and refractory nature of the seizures. Existing treatment options are often ineffective and associated with a host of adverse effects, causing those that are affected to seek alternative trea...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/j.eplepsyres.2019.02.001
更新日期:2019-03-01 00:00:00
abstract::The role of the associative connections in the propagation of epileptiform discharges originating from an acute, localized epileptic focus in the anterior piriform cortex has been characterized recently in the in vitro isolated guinea-pig brain preparation. The present study demonstrates that the dorsal propagation of...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(96)00014-9
更新日期:1996-07-01 00:00:00
abstract:PURPOSE:Caffeine is a non-selective antagonist of A1 and A2A adenosine receptors (ARs). In this regard, nitric oxide (NO) is partly involved in the central effects of caffeine. In this study, we examined the effect of acute caffeine administration on pentylenetetrazole (PTZ)-induced seizure threshold by focusing on A1R...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2018.10.013
更新日期:2019-01-01 00:00:00
abstract:PURPOSE:Ictal magenetoencephalographic (MEG) discharges convey significant information about ictal onset and propagation, but there is no established method for analyzing ictal MEG. This study sought to clarify the usefulness of time-frequency analyses using short-time Fourier transform (STFT) for ictal onset and propa...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2010.05.001
更新日期:2010-08-01 00:00:00
abstract::Seizures induced by the convulsant methionine sulfoximine (MSO) resemble human "grand mal" epilepsy, and brain glutamine synthetase is inhibited. We recently selected two inbred lines of mice: sensitive to MSO (MSO-Fast) and resistant (MSO-Slow). In the present study, the selection pressure was increased and consangui...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.08.012
更新日期:2012-01-01 00:00:00
abstract::Single photon emission computed tomography (SPECT) has frequently been used to investigate cerebral brain perfusion (CBP) occurring ictally and inter-ictally in epileptic patients. Several studies have addressed the multimodal analysis of the modifications occurring in cerebral areas involved in seizure activity, by c...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(00)00111-x
更新日期:2000-06-01 00:00:00
abstract::GABA transporters (GATs) are an essential element of the GABAergic system, which regulate excitability in the central nervous system and are thus used as targets for anticonvulsive therapy. However, in the immature nervous system the functions of the GABAergic system and the expression profile of GATs are distinct fro...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2013.11.019
更新日期:2014-02-01 00:00:00
abstract::Temporal lobe epilepsy (TLE) has been modeled in mice using pilocarpine induction, with variable results depending on specific strains. To allow efficient xenotransplantation for the purpose of optimizing potential cell-based therapy of human TLE, we have determined the optimal dosing strategy to produce spontaneous r...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2014.10.016
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVES:Patients with epilepsy have excess morbidity and mortality due to ischemic cardiovascular disease. Many of these patients have elevated concentrations of plasma total homocysteine (Hcy), which is an acknowledged risk factor for cardiovascular disease, venous thromboembolic disease, foetal malformations and d...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.06.003
更新日期:2008-11-01 00:00:00
abstract:INTRODUCTION:The anticonvulsant effects of melatonin (MT) have been demonstrated in several different experimental seizure models. Thus, the present study aimed to determine the anticonvulsant efficacy of MT, the optimum time for its administration prior to the induction of a seizure, and its effective dose in a rat mo...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.11.004
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVE:Understanding the overall and common metabolic changes of seizures can provide novel clues for their control and prevention. Here, we aim to investigate the global metabolic feature of serum for three types of seizures. METHODS:We recruited 27 patients who had experienced a seizure within 48h (including 11 w...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2016.07.003
更新日期:2016-10-01 00:00:00
abstract:BACKGROUND:Diffusion tensor tractography of the anterior extent of the optic radiation - Meyer's loop - prior to temporal lobe resection (TLR) may reduce the risk for postoperative visual field defect. Currently there is no standardized way to perform tractography. OBJECTIVE:To visualize Meyer's loop using determinist...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2014.01.017
更新日期:2014-03-01 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::The ketogenic diet (KD) remains a therapy in search of explanation although it is an established treatment of intractable epilepsy. Recent studies suggest that the KD may be both anticonvulsant and antiepileptogenic. Epileptic seizures have been shown to stimulate the proliferation rate of neuronal progenitor cells in...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2007.11.010
更新日期:2008-02-01 00:00:00
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...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.09.003
更新日期:2009-01-01 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::NMDA, AMPA, and kainate receptors are the principal excitatory receptors in the brain. These receptors have been considered as the main targets in the treatment of epilepsy in recent years. This work aimed to determine how the Ca2+ conductivity of ionotropic glutamate receptors and voltage-gated Ca2+ channels changes ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2019.106224
更新日期:2019-12-01 00:00:00
abstract:OBJECTIVE:To describe the use of a population pharmacokinetic (PopPK) model incorporating weight and ontogeny to identify effective clobazam (CLB) dosing for use in a clinical trial in pediatric patients with Dravet syndrome. METHODS:Pharmacokinetic data were combined from 3 CLB trials (OV-1012, OV-1017, and study 301...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2019.106182
更新日期:2019-11-01 00:00:00
abstract::Nonconvulsive status epilepticus (NCSE) is difficult to diagnose but is an important cause of cognitive impairment. Electroencephalogram (EEG) monitoring is required for diagnosis and treatment. Little is known regarding the stability of subclinical epileptiform discharges (SEDs) preceding NCSE nor what strategies may...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(02)00107-9
更新日期:2002-09-01 00:00:00
abstract::Metalloproteinase 9 (MMP9) is a member of a family of enzymes that mediate the degradation of extracellular matrix proteins, and is especially involved in blood-brain barrier maintenance. Increased levels of MMP9 have been observed in many neurological disorders, including epilepsy, suggesting it may be involved in th...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2016.11.006
更新日期:2017-01-01 00:00:00
abstract:PURPOSE:The stringent dichotomy between focal and generalized epilepsies has become a contentious issue, since neuropathological studies as well as structural and functional imaging data hypothesized the existence of focal brain abnormalities in patients with well-documented idiopathic generalized epilepsy. The aim of ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(02)00084-0
更新日期:2002-08-01 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
abstract::Developmental changes of transport of drugs into the brain play an important role in ontogenetic neuropharmacology. Two convulsant drugs with different mechanisms of action (glutamate and bicuculline methiodide) were chosen to demonstrate these changes in developing rats. High dose of glutamate (4 g/kg i.p.) induced b...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(00)00179-0
更新日期:2000-12-01 00:00:00