Abstract：
:Mutations of genes coding for ion channels cause several genetically determined human epileptic syndromes. The identification of a gene variant linked to a particular disease gives important information, but it is usually necessary to perform functional studies in order to completely disclose the pathogenic mechanisms. The functional consequences of epileptogenic mutations have been studied both in vitro and in vivo with several experimental systems, studies that have provided significant knowledge on the pathogenic mechanisms that leads to inherited human epilepsies, and possibly also on the pathogenic mechanisms of non-genetic human epilepsies due to "acquired channelopathies". However, several open issues remain and difficulties in the interpretation of the experimental data have arisen that limit translational applications. We will highlight the value and the limits of different approaches to the study of epileptogenic channelopathies, focussing on the importance of the experimental systems in the assessment of the functional effects of the mutations and on the possible applications of the obtained results to the clinical practice.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Mantegazza M,Rusconi R,Scalmani P,Avanzini G,Franceschetti Sdoi
10.1016/j.eplepsyres.2010.08.003subject
Has Abstractpub_date
2010-11-01 00:00:00pages
1-29issue
1eissn
0920-1211issn
1872-6844pii
S0920-1211(10)00211-1journal_volume
92pub_type
杂志文章,评审abstract：:Temporal lobe epilepsy (TLE) is the most common type of epilepsy with about one third of TLE patients being refractory to antiepileptic drugs. Knowledge about the mechanisms underlying seizure activity is fundamental to the discovery of new drug targets. Brain Na(+),K(+)-ATPase activity contributes to the maintenance ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.025
更新日期：2014-12-01 00:00:00
abstract：:Twenty-one children (11 boys, 10 girls) suffering from visual seizures were studied. The visual seizures manifested as loss of vision, flickering light, blurring or figurative hallucinations. Ictal EEGs during visual seizures were recorded in 4 cases; the ictal discharges all originated in the occipital area. Visual s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(87)90032-5
更新日期：1987-07-01 00:00:00
abstract：OBJECTIVE:Despite increasing amounts of research on periodic discharges (PDs), large clinical studies regarding their prognostic value are lacking. The aim of the current study was to evaluate the clinical implications and prognostic value of PDs. METHODS:In this single-center retrospective cohort study, we included p...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.004
更新日期：2017-03-01 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：:Interactions of subclinical epileptiform EEG discharges and cognitive functioning were studied in 91 patients with epilepsy, under video monitoring, to exclude overt clinical ictal phenomena during the investigations. A short-term memory test was presented as an engaging television game, in two versions, using spatial...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(87)90031-3
更新日期：1987-07-01 00:00:00
abstract：:Inflammatory mechanisms are involved in the pathogenesis of epilepsy. Vice versa, immune functions are regulated by the brain. We measured postictal changes in serum levels of the immuno-modulating cytokines IL-1beta, IL-6 and TNFalpha in patients with well-defined temporal lobe epilepsy (TLE) and determined modifying...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.05.009
更新日期：2009-09-01 00:00:00
abstract：PURPOSE:To evaluate the efficacy and safety of stiripentol as add-on therapy in Japanese patients with Dravet syndrome treated with clobazam (CLB) and valproate (VPA). METHODS:In this open-label study, patients aged 1-30 years entered a 4-week baseline phase, followed by a 4-week stiripentol dose-adjustment and 12-wee...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/j.eplepsyres.2014.02.008
更新日期：2014-05-01 00:00:00
abstract：PURPOSE:The present study aims to determine the initialization and propagation of typical absence seizures using magnetoencephalography (MEG). METHOD:Fourteen drug-naïve children with childhood absence epilepsy (CAE) were studied using a 275-Channel MEG system. The spectral signatures of epileptic activity were assess...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.01.006
更新日期：2014-03-01 00:00:00
abstract：:Changes in EEG synchronization, i.e., spatio-temporal correlation, with amygdala-hippocampal stimulation were studied in patients with temporal lobe epilepsy. Synchronization was evaluated for high frequency, 130 Hz, pseudo-monophasic or biphasic charge-balanced pulses. Desynchronization was most frequently induced by...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.11.024
更新日期：2014-02-01 00:00:00
abstract：:The role of N-methyl-D-aspartate (NMDA) in the development and expression of kindled seizures was assessed using a crossover design. Rats were stimulated once daily in the perforant path for 10 consecutive days 30 min following daily administration of saline or the NMDA antagonist MK-801 (1.0 mg/kg) (phase I). Five to...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90014-0
更新日期：1994-02-01 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：OBJECTIVE:The aim of this study was to investigate whether there may be a correlation between the anatomical variants of Circle of Willis (CoW) and presence/laterality of mesial temporal sclerosis (MTS). METHODS:We retrospectively identified the CoW variants on Wada angiograms in 71 patients with pathologically proven...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.017
更新日期：2017-05-01 00:00:00
abstract：RATIONALE AND PURPOSE:Preliminary reports have suggested a possible 'aetiology-specific' efficacy of tiagabine (TGB) in patients with drug-resistant partial epilepsy (DRPE) related to cerebral glial tumors (GTs). This efficacy should be related to selective blocking of GAT-1 transporter by TGB. We presented our open-la...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00005-0
更新日期：2002-03-01 00:00:00
abstract：:In this preliminary study, we evaluated the predictive ability of Correlation Dimension (CD) and Nonlinear Interdependence (NI) for seizures in pediatric myoclonic epilepsy patients. Scalp EEG recordings of eight diagnosed cases of myoclonic epilepsy were analyzed using Receiver Operating Curve (ROC) for discriminatin...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.06.011
更新日期：2017-09-01 00:00:00
abstract：:Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.04.007
更新日期：2017-07-01 00:00:00
abstract：:Resting motor threshold (rMT) assessed by means of Transcranial Magnetic Stimulation (TMS) is thought to reflect trans-synaptic excitability of cortico-spinal neurons. TMS studies reporting rMT in idiopathic generalized epilepsies (IGEs) yielded discrepant results, so that it is difficult to draw a definitive conclusi...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2012.03.020
更新日期：2012-08-01 00:00:00
abstract：:We report an interaction between lamotrigine (LTG), a new antiepileptic drug (AED), and carbamazepine (CBZ) and its primary metabolite CBZ-10,11-epoxide (CBZ-E) in 9 consecutive patients (5 male, 4 female, aged 19-31 years). After introduction of LTG (median daily dose 200 mg, range 100-300 mg) the mean serum CBZ-E co...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90049-y
更新日期：1992-04-01 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：:A battery of psychometric tests was administered to 110 patients with epilepsy and to 24 non-epileptic controls. Eighty-four patients had been established on treatment with a single anticonvulsant drug (35 carbamazepine (CBZ), 30 sodium valproate (VPA), 19 phenytoin (PHT)) at unaltered dosage for the previous 3 months...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90018-q
更新日期：1990-12-01 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：:Women with epilepsy have different needs from men, particularly associated with childbearing. Despite clinical guidelines, the care of women with epilepsy remains suboptimal. The aim of this study was to establish whether women with epilepsy recall being given information on topics relating to childbearing. Design of ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(02)00135-3
更新日期：2002-12-01 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：:In this second paper the clinical features and electrophysiological underpinnings of more complex psychotic states associated with epilepsy are reviewed. (a) Complex partial status epilepticus, in particular of temporal lobe origin, may result in mental states remarkably similar to those seen in the primary psychoses....
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2009.03.017
更新日期：2009-08-01 00:00:00
abstract：:The postictal behavioral depression (PBD), characterized by behavioral immobility and unresponsiveness to environmental stimuli, observed after a stage 5 kindling seizure is opioid dependent. Morphine injection prolongs while naloxone and naltrexone (opioid antagonists) reduce or eliminate PBD. Opioids have clear rewa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00101-1
更新日期：2000-02-01 00:00:00
abstract：:Cranial MRI has been shown to be a safe procedure in patients with a vagus nerve stimulator (VNS), but body MRI may cause overheating of the stimulator lead. Here we report a case of a patient with an implanted vagus nerve stimulator who required a cervical spinal MRI due to a rapidly progressive paraparesis. The spin...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.02.008
更新日期：2009-04-01 00:00:00
abstract：:The purpose of this study was to determine the influence of levetiracetam on the steady-state serum concentrations of other commonly used antiepileptic drugs (AEDs). Serum AED concentrations were measured at baseline and after adjunctive therapy with levetiracetam (1000-4000 mg/day) or placebo in four phase III trials...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,meta分析,随机对照试验
doi：10.1016/j.eplepsyres.2005.01.005
更新日期：2005-03-01 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：:Cooling has been shown to terminate experimentally induced epileptiform activity in models of epilepsy without causing injury to the cooled brain, suggesting that cooling could represent an approach to seizure control in intractable focal epilepsies. Here we sought to determine the most effective way to apply cooling ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.05.001
更新日期：2006-08-01 00:00:00
abstract：:Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00049-6
更新日期：1995-11-01 00:00:00
abstract：BACKGROUND:Treatment of paediatric epilepsy has advanced with the development of new antiepileptic drugs (AEDs). There are few data for Germany to which extent new AEDs are used in the treatment of childhood epilepsy. AIMS:To characterise utilisation of antiepileptics in children and adolescents with a specific emphas...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.06.008
更新日期：2013-01-01 00:00:00
