Abstract：
:The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic variants across the KCNAB1 gene and LTE. The allele and genotype frequencies of 14 KCNAB1 intronic SNPs were determined in 142 Italian LTE patients and 104 healthy controls and statistically evaluated. Single SNP analysis revealed one SNP (rs992353) located near the 3'end of KCNAB1 slightly associated with LTE after multiple testing correction (odds ratio=2.25; 95% confidence interval 1.26-4.04; P=0.0058). Haplotype analysis revealed two haplotypes with frequencies higher in cases than in controls, and these differences were statistically significant after permutation tests (Psim=0.047 and 0.034). One of these haplotypes was shown to confer a high risk for the syndrome (odds ratio=12.24; 95% confidence interval 1.32-113.05) by logistic regression analysis. These results support KCNAB1 as a susceptibility gene for LTE, in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Busolin G,Malacrida S,Bisulli F,Striano P,Di Bonaventura C,Egeo G,Pasini E,Cianci V,Ferlazzo E,Bianchi A,Coppola G,Elia M,Mecarelli O,Gobbi G,Casellato S,Marchini M,Binelli S,Freri E,Granata T,Posar A,Parmeggianidoi
10.1016/j.eplepsyres.2011.01.010subject
Has Abstractpub_date
2011-03-01 00:00:00pages
110-6issue
1-2eissn
0920-1211issn
1872-6844pii
S0920-1211(11)00029-5journal_volume
94pub_type
杂志文章abstract：:Multiple forms of the ketogenic diet (KD) have been successfully used to treat drug-resistant epilepsy, however its mainstream use as a first-line therapy is still limited. Further investigation into its clinical efficacy as well as the molecular basis of activity is likely to assist in the reversal of any resistance ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2011.04.017
更新日期：2012-07-01 00:00:00
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 seiz...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.02.019
更新日期：2014-05-01 00:00:00
abstract：:Increased prevalence of autoantibodies has been suggested in patients with epilepsy. This study determined the presence of autoantibodies in a representative cohort of 960 patients with epilepsy. The frequency of antinuclear antibodies (ANA), immunoglobulin G class anticardiolipin antibodies (aCL) and anti-B2-glycopro...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.12.004
更新日期：2004-01-01 00:00:00
abstract：:Freeze-lesion-induced focal cortical dysplasia in rats closely resembles human microgyria, a neuronal migration disorder associated with drug-resistant epilepsy. Alterations in expression of N-methyl-D-aspartate receptors (NMDARs) containing NR2B subunits have been suggested to play a role in the hyperexcitability see...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.07.013
更新日期：2006-12-01 00:00:00
abstract：:The present study aimed at investigating to what extent the regulation of excitability in cortical networks, as indicated by surface-negative slow cortical potentials (SCPs), is impaired in epileptic patients and to what extent training of SCP self-regulation by means of biofeedback and instrumental learning procedure...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90075-i
更新日期：1993-01-01 00:00:00
abstract：:Status epilepticus (SE) is a common neurological and medical emergency. Despite the significant mortality associated with SE, no human data have been available regarding cardiovascular changes prior to death in patients with this condition. This study was conducted to measure hemodynamic trends in the 24 h prior to de...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00031-x
更新日期：1998-08-01 00:00:00
abstract：:Basal and high potassium-stimulated release of endogenous amino acids was measured using brain dialysis in the hippocampus of urethane-anesthetized seizure-resistant (SR) and seizure-susceptible (SS) rats. Moreover, the tissue level of amino acids was determined in the hippocampus, sensorimotor cortex, cerebellum and ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90040-5
更新日期：1989-03-01 00:00:00
abstract：:Epilepsy - the world's most common serious brain disorder - is defined by recurrent unprovoked seizures that result from complex interactions between distributed neural populations. We explore some macroscopic characteristics of emergent ictal networks by considering intracranial recordings from human subjects with in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.02.002
更新日期：2008-05-01 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：: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：PURPOSE:To compare and validate the gradient magnetic-field topography (GMFT) method of current source localization for understanding epileptic zones against equivalent current dipole (ECD) and intracranial video-EEG (IVEEG) data in patients with intractable neocortical epilepsy. METHODS:We used retrospective data fro...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.04.002
更新日期：2010-06-01 00:00:00
abstract：BACKGROUND:In many parts of eastern Asia, rice is a dietary staple and therefore the ketogenic diet (KD) can be difficult to administer. The aim of this study was to assess the long-term effectiveness and tolerability of the classical KD using a 2:1 ratio of fat to protein plus net carbohydrates, which is lower than th...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.09.002
更新日期：2018-11-01 00:00:00
abstract：OBJECTIVE:Using the gamma-butyrolactone (GBL) model of absence seizures in Long-Evans rats, this study investigated if 2.5-6 Hz paroxysmal discharges (PDs) induced by GBL were synchronized among the thalamocortical system and the hippocampus, and whether inactivation of the hippocampus affected PDs. METHODS:Local fiel...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.12.007
更新日期：2016-02-01 00:00:00
abstract：:Evidence-based treatment guidelines and practice parameters have been developed in most areas of medicine. They are important because insurance companies, formulary managers, and health maintenance organizations rely on guidelines for formulary and coverage decisions. The methodology for practice parameter development...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.09.021
更新日期：2006-01-01 00:00:00
abstract：INTRODUCTION:Grammar is a core component of the language system, yet it is rarely assessed during the Wada (intracarotid amobarbital) test. It is hypothesized that adding grammar tests to the recovery phase of the Wada test will increase our ability to lateralize language function. METHOD:Sixteen individuals (nine fem...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.014
更新日期：2014-12-01 00:00:00
abstract：:The idiopathic generalized epilepsies (IGE), for which a genetic cause is widely accepted, account for 20-30% of all epilepsies. Mapping these epilepsies is difficult, but progress in the positional cloning of idiopathic epilepsy genes responsible for monogenic forms provide emerging evidence that many idiopathic epil...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.09.002
更新日期：2003-10-01 00:00:00
abstract：INTRODUCTION:Proton magnetic resonance spectroscopy ((1)H MRS) has been proposed as a lateralizing method for the presurgical evaluation of patients with medically intractable temporal lobe epilepsy (TLE). Studies have shown correlations between temporal lobe (TL) NAA and seizure frequency, and TL NAA/Cr and the durati...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.06.010
更新日期：2004-12-01 00:00:00
abstract：PURPOSE:The aim of the present study is to verify whether patients with partial epilepsy receiving levetiracetam (LEV) as an add-on treatment show an improvement in cognitive function. METHODS:A neuropsychological battery of tests was administered to 35 patients with partial epilepsy before the assumption of LEV and a...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.10.006
更新日期：2006-03-01 00:00:00
abstract：:A role of cholinergic nervous system in the behavioral impairments induced by repeated ECS is not understood. The α4β2 nicotinic acetylcholine receptor (nAChR) agonist ABT-418, but not the α7 nAChR agonist, significantly ameliorated the impairment of spontaneous alternation behavior in the Y-maze test. And, repeated E...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.09.017
更新日期：2013-03-01 00:00:00
abstract：:The purpose of this study is to propose and investigate a new approach for discriminating between focal and non-focal hemispheres in intractable temporal lobe epilepsy, based on applying multivariate time series analysis to the discharge-free background brain activity observed in nocturnal electrocorticogram (ECoG) ti...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.06.003
更新日期：2004-09-01 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：OBJECTIVE:To characterize, in adolescents aged 12-17, the pharmacokinetic (PK) profile of perampanel, the impact of intrinsic and extrinsic factors on PK, and the relationships between perampanel exposure and cognitive function, seizure frequency, and responder status. METHODS:Population PK analysis used plasma concen...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2016.08.025
更新日期：2016-11-01 00:00:00
abstract：:Periventricular nodular heterotopia (PVNH) is a neuronal migrational disorder often associated with pharmacoresistant epilepsy (PRE). Resective surgery for PVNH is limited by its deep location, and the overlying eloquent cortex or white matter. Stereotactic MR guided laser interstitial thermal therapy (MRgLITT) has re...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.01.009
更新日期：2014-03-01 00:00:00
abstract：:Comorbid conditions may affect the quality of life in persons with epilepsy (PWE) more than seizures. Using legally mandated healthcare encounter data, somatic, psychiatric, and neurodevelopmental comorbidities in a large population-based cohort of PWE, were compared to persons with migraine (PWM), a similar neurologi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.12.002
更新日期：2014-02-01 00:00:00
abstract：:Benzodiazepines (BDZs) are GABA(A) receptor modulators with anxiolytic, hypnotic, and anticonvulsant properties. BDZs are understood to potentiate GABA(A) receptor function by increasing channel opening frequency, in contrast to barbiturates, which increase channel open duration. However, the in vitro evidence demonst...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.007
更新日期：2009-08-01 00:00:00
abstract：:The Third Eilat Conference on New Antiepileptic Drugs was held at the Royal Beach Hotel from May 27 to May 30, 1996. Epileptologists and scientists from 20 countries attended the conference, which was held to discuss critical issues in drug development, new antiepileptic drugs (AEDs) in development, progress reports a...
journal_title：Epilepsy research
pub_type：
doi：10.1016/s0920-1211(96)00081-2
更新日期：1996-11-01 00:00:00
abstract：PURPOSE:Women with epilepsy often suffer from weight gain. A similar phenomenon is seen in female rats that are kindled from the amygdala. Interestingly, it has been reported that kindling of the left amygdala causes more weight gain than kindling of the right amygdala. The present study was designed to confirm and ext...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.07.007
更新日期：2009-11-01 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：:Polyamine (tissue) concentrations have been studied in hippocampus and temporal neocortex from patients with temporal lobe epilepsy. Depth electrode recordings demonstrated hippocampal origin of the seizures, the temporal neocortex being involved during the discharge propagation. Neuropathological examination of excis...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90035-r
更新日期：1992-07-01 00:00:00
abstract：:Previous investigations in seizure-prone mice have suggested that an abnormally elevated production of the astrocyte-derived neuroexcitant, quinolinic acid (QUIN), plays a role in seizure susceptibility. In order to evaluate further the role of QUIN metabolism in genetic murine seizure models, the activities of its bi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90039-6
更新日期：1994-07-01 00:00:00
