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 epilepsies are caused by mutations in genes coding for ion channels. Here, we show the characterization of a balanced translocation present in three members of a nuclear family, two of them affected with IGE. The translocation involved chromosome 6p21 [t(4;6) (q35;p21)], a region in which a susceptibility locus for IGE (EJM1) has been reported. Fluorescence in situ hybridization analysis with YACs and PACs resulted in the identification of a PAC clone that included the 6p21 translocation breakpoint. The genomic sequence of this PAC clone contains two 2-pore potassium channel genes, TALK-1 and TALK-2. We characterized the genomic organization of both genes, including three different isoforms of TALK-1, and investigated them in IGE patients, finding some polymorphisms in the coding sequence of TALK-1A.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Sáez-Hernández L,Peral B,Sanz R,Gómez-Garre P,Ramos C,Ayuso C,Serratosa JMdoi
10.1016/j.eplepsyres.2003.09.002subject
Has Abstractpub_date
2003-10-01 00:00:00pages
155-63issue
2-3eissn
0920-1211issn
1872-6844pii
S0920121103001566journal_volume
56pub_type
杂志文章abstract：:Neuromodulation therapies represent an important treatment arm for patients with drug-resistant epilepsy (DRE) who are not candidates for resective surgery. Vagus nerve stimulation (VNS) - the neurostimulation modality in focus in this review - was the first available neuromodulatory therapy for DRE and was followed b...
journal_title：Epilepsy research
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.eplepsyres.2019.02.004
更新日期：2019-07-01 00:00:00
abstract：PURPOSE:Antiepileptic drugs (AEDs) may have adverse effects on bone metabolism and bone mineral density (BMD). The aim of this study is to determine the changes of bone metabolism and BMD in epilepsy patients who are undergoing levetiracetam (LEV) monotherapy. METHODS:Drug-naïve, sixty-one patients with recent onset e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.09.002
更新日期：2013-03-01 00:00:00
abstract：:Daily treatment of mice with diazepam leads to the development of tolerance to the anxiolytic and anticonvulsant effect of the benzodiazepine, while daily treatment with the proconvulsant benzodiazepine receptor inverse agonist FG 7142 produces sensitization to its effects in that seizures develop (chemical kindling)....
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(88)90016-2
更新日期：1988-07-01 00:00:00
abstract：:The objective of the study was to explore clinical, electroencephalography (EEG), neuropsychological features and prognosis of myoclonic-astatic epilepsy (MAE). Of 327 children aged between 1 and 9 years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 (5.5%) had MAE. Male significantly pred...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.07.021
更新日期：2011-11-01 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：:The present study investigated whether pharmacological stimulation of the GABAergic system can affect attention. The effects of vigabatrin, a novel antiepileptic drug, on the performance of rats in a 5-choice serial reaction time task assessing selective attention were studied. The effects of acute (100, 300, 500 and ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90057-z
更新日期：1992-12-01 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：OBJECTIVE:This study was undertaken to determine whether levetiracetam (Keppra) affected the pharmacokinetic or pharmacodynamic profile of digoxin in healthy adults. METHODS:Seven men and four women (19-48 years old) completed this double-blind, placebo-controlled study. Each received digoxin 0.25 mg once daily (0.5 m...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0920-1211(01)00253-4
更新日期：2001-08-01 00:00:00
abstract：PURPOSE:We studied the effect of fosphenytoin (FOS) pre-medication on the incidence and thresholds of after-discharges (ADs), seizures, and functional responses during electrical stimulation mapping (ESM). METHODS:As individualized by the attending epileptologist, FOS was given intravenously at 2 mg-phenytoin-equivale...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.01.017
更新日期：2018-02-01 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：:The subjects were 106 SMIDS with epilepsy. They were classified into four epileptic syndromes: (1) SE-MISF (34.0%), (2) SGE (25.5%), (3) SLRE (20.7%), and (4) epileptic discharge-free patients (EDFP) (19.8%). Clinical electroencephalographic studies elucidated the following result: (1) The seizure disappearance rate w...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.09.006
更新日期：2007-12-01 00:00:00
abstract：:Classification of seizures arising from the cortical motor system classically distinguishes between primary motor seizures and supplementary motor area (SMA) seizures. With the aim of better characterizing the underlying networks of motor seizures, we quantitatively studied the "epileptogenicity" of brain structures i...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.04.011
更新日期：2013-09-01 00:00:00
abstract：:The present study examined the relationship between the patterns and densities of glutamate AMPA receptor sub-units GluR1 and GluR2/3 in the molecular layer of the fascia dentata and aberrant mossy fiber neoinnervation in human and kainate rat hippocampal epilepsy. Because AMPA sub-units modulate the fast glutamate sy...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(96)00053-8
更新日期：1996-12-01 00:00:00
abstract：:Triheptanoin, the triglyceride of heptanoate, is used to treat certain hereditary metabolic diseases in USA because of its anaplerotic potential. In two chronic mouse seizure models this clear tasteless oil was found to be reproducibly anticonvulsant. Here we investigated the effects of triheptanoin feeding in C3H and...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.12.013
更新日期：2012-05-01 00:00:00
abstract：:Post-stroke seizures occur in 5-20% of patients. Modeling of stroke-induced seizures in animals provides a useful tool for investigating the molecular basis of epileptogenesis and for developing therapies for stroke patients at increased risk for epileptogenesis. The questions addressed in the study were: (1) Do rats ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(03)00034-2
更新日期：2003-04-01 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：:Huperzine A (HupA) is a naturally occurring compound found in the firmoss Huperzia serrata. While HupA is a potent acetylcholinesterase inhibitor, its full pharmacologic profile is incompletely described. Since previous works suggested a capacity for HupA to prophylax against seizures, we tested the HupA antiepileptic...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.08.012
更新日期：2015-11-01 00:00:00
abstract：:Although accumulating evidence indicates that the immunomodulatory medication thalidomide exerts anticonvulsant properties, the mechanisms underlying such effects of thalidomide are still unknown. Our previous preclinical study suggested that nitric oxide (NO) signaling may be involved in the anticonvulsant effects of...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106362
更新日期：2020-08-01 00:00:00
abstract：:The effect of magnesium-free medium on electrical and CaM kinase II activity in the rat hippocampal slice was examined. Experimental slices were incubated in 2 mM Mg, then exposed to magnesium-free medium for 1 h. Control slices were concurrently run in 2 mM Mg. Slices were then frozen and CaM kinase II activity was m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(91)90054-j
更新日期：1991-09-01 00:00:00
abstract：:AWD 140-190 a potent new anticonvulsant was tested on several types of epileptiform activities in entorhinal cortex hippocampal slices. AWD 140-190 suppressed completely and in a dose-dependent manner spontaneous seizure-like events induced by lowering extracellular Ca2+. In the low magnesium model, AWD 140-190 applie...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00066-1
更新日期：1997-12-01 00:00:00
abstract：PURPOSE:To try to prove in patients with refractory symptomatic epilepsy due to early brain injury involving thalamus and complicated by CSWS the effects of the isolation of the injured hemisphere, performed with functional hemisperectomy, on epilepsy, namely on CSWS. METHODS:Full clinical follow-up before and after s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.09.014
更新日期：2009-12-01 00:00:00
abstract：:Glutamatergic ionotropic and metabotropic receptor modulators have been shown to produce anticonvulsant activity in a number of animal seizure models, e.g. maximal electroshock (MES) and DBA/2 sensory-induced seizures. The 6 Hz model of partial seizures is an alternative low frequency, long duration stimulation paradi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.08.001
更新日期：2003-09-01 00:00:00
abstract：:The ketogenic diet (KD) increased the expression of calbindin-D(28k) (CB) in the interneurons of the hippocampus compared with the normal diet (ND)-fed mice. Also, 2 days after kainic acid (KA) administration, numerous CB-expressing astrocytes were found in the KD-fed mice compared with those of the ND-fed mice. These...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.05.008
更新日期：2005-07-01 00:00:00
abstract：OBJECTIVES:Cryosurgery is an alternative technique for minimally invasive treatment of lesions. We have recently examined cryosurgery for epilepsy in animal models, and found that penicillin G (PG)-induced epileptiform discharges (EDs) mostly vanished after freezing. However, EDs were provoked again after insufficient ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.03.021
更新日期：2018-07-01 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：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：BACKGROUND:Little is known, so far, about the cerebral structural abnormalities in drug-naïve patients with childhood absence epilepsy (CAE). We aimed to investigate regional grey matter (GM) volume differences using voxel-based morphometry (VBM) in patients and closely matched healthy control subjects. METHODS:Twenty...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.05.003
更新日期：2016-08-01 00:00:00
abstract：:The effects of a novel anticonvulsant, zonisamide (3-sulfamoylmethyl-1,2-benzisoxazole), on photically induced seizures were studied in the lateral geniculate-kindled cat. Zonisamide was found to reduce the behavioral severity of seizure responses to photic stimulation in a dose-related manner. This anticonvulsant eff...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90096-e
更新日期：1990-11-01 00:00:00
abstract：:Physical maturation is one of the essential developmental processes during childhood and adolescence, which can be adversely affected by a number of internal and external factors. An important side effect associated with the long-term use of some antiepileptic drugs is change in body weight, followed by an increased r...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(01)00250-9
更新日期：2001-07-01 00:00:00
abstract：:Serum levels of prolactin may increase as a consequence of epileptic seizures. The hormone release is caused by the propagation of epileptic activity, usually from the temporal lobe to the hypothalamic-pituitary axis. Due to the intensity of the epileptic afterdischarge, a rise is seen in approximately 60% of complex ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/0920-1211(96)00009-5
更新日期：1996-05-01 00:00:00
