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 seven sequence variants (missense mutation and silent polymorphism also intronic polymorphism), as well as 2 novel de-novo mutations were found in our patients at coding regions, c.5197A>G (N1733D) and c.4748A>G (H1583R). Our findings provide potential genetic insights into the pathogenesis of GEFS+ in Malaysian populations concerning the SCN1A gene mutations.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Tan EH,Razak SA,Abdullah JM,Mohamed Yusoff AAdoi
10.1016/j.eplepsyres.2012.08.004subject
Has Abstractpub_date
2012-12-01 00:00:00pages
210-5issue
3eissn
0920-1211issn
1872-6844pii
S0920-1211(12)00239-2journal_volume
102pub_type
杂志文章abstract：:To clarify the mechanisms of the antiepileptic activity of phenytoin (PHI), the effects of PHT on extracellular and total levels of monoamines (dopamine and serotonin), in rat striatum and hippocampus were studied. The plasma concentrations of PHT associated with therapeutic activity did not affect striatal and hippoc...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00043-0
更新日期：1997-09-01 00:00:00
abstract：INTRODUCTION:Rolandic epilepsy (RE) is an idiopathic focal childhood epilepsy with a well-established neuropsychological profile of language impairment. The aim of this study is to provide a functional correlate that links rolandic (sensorimotor) pathology to language problems using functional MRI. MATERIALS AND METHO...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.10.008
更新日期：2013-12-01 00:00:00
abstract：OBJECTIVE:Intensive and quantitative evaluation of the duration, intensity and frequency of tonic and clonic signs of secondarily generalized tonic-clonic seizures (GTCS) in patients with pharmacoresistant partial seizures during topiramate (TPM) treatment. METHODS:Thirty patients suffering from refractory partial sei...
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(02)00014-1
更新日期：2002-04-01 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：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：:Granule cell dispersion (GCD), a structural abnormality, is characteristic of temporal lobe epilepsy (TLE). Eugenol (EUG) is an essential component of medicinal herbs and is suggested to exert anticonvulsant activity. However, it is unclear whether EUG ameliorates the abnormal morphological changes in granule cells in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.06.001
更新日期：2015-09-01 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：:We have surveyed the rates at which clinicians in the U.K. and Eire withdraw antiepileptic drugs (AEDs) in patients with active epilepsy. Practice differed widely and there was a lack of consensus regarding the rates employed. Inpatient reductions were 2-4 times faster than outpatient reductions. AED reductions tended...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(87)90060-x
更新日期：1987-11-01 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：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：:The effect of repetitive administration of naloxone on the development of massed amygdaloid kindling in 'encéphale isolé' cats was studied. Electrical amygdaloid kindling was carried out with a 15 min inter-stimulus interval (ISI) in a control situation with intravenous (i.v.) naloxone administration (2, 4, and 8 mg/k...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90058-2
更新日期：1989-07-01 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：PURPOSE:Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined synd...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.05.004
更新日期：2018-08-01 00:00:00
abstract：:Tiagabine is a novel antiepileptic drug which has clinical efficacy against complex refractory and myoclonic seizures. The anticonvulsant mechanism of action of tiagabine results from its blockade of neuronal and glial GABA-uptake, thereby increasing GABA levels in the synaptic cleft. Here we present a comparison of t...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00031-4
更新日期：1997-07-01 00:00:00
abstract：:Children with refractory epilepsy who are co-treated with the ketogenic diet (KD) and carbonic anhydrase inhibitor (CA-I) anti-epileptic medications including topiramate (TPM) and zonisamide (ZNS) are at risk for urolithiasis. Retrospective chart review of all children treated with ketogenic therapy at our institution...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.04.005
更新日期：2010-06-01 00:00:00
abstract：OBJECTIVE:Recent studies have suggested that the early introduction of a ketogenic diet (KD) could improve seizure control in myoclono-astatic epilepsy (MAE). This multicenter study sought to identify the benefits of KD use on seizure control and epilepsy and on developmental outcomes in children with resistant MAE. M...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2017.02.005
更新日期：2017-03-01 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：:Posttraumatic epilepsy is a common consequence of traumatic brain injury in humans. Major predictors for the development of posttraumatic epilepsy include the severity of injury and occurrence of cortical contusions. The effect of the size or location of the cortical lesion on the risk of epileptogenesis, however, is ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.03.007
更新日期：2010-06-01 00:00:00
abstract：:Food intake triggers convulsions in fasted mice and rats treated with antimuscarinic drugs, scopolamine or atropine. Most of the drugs produced anticonvulsant efficacy in these convulsions have sedative effects. Thus, the present study was performed to evaluate the contribution of sedation in the suppression of convul...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.10.011
更新日期：2010-03-01 00:00:00
abstract：:The Neurotoxicity Scale was devised as a patient-based report scale to assess the adverse effects of antiepileptic drugs on cognitive function. In a previous report we reported the clinical validity of the scale, tested in a double-blind randomized study, using a benzodiazepine in normal volunteers. In the present stu...
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(97)01036-x
更新日期：1997-06-01 00:00:00
abstract：:Interictal blood flow single photon emission computed tomography (SPECT) has been considered to be of limited value in the investigation of patients with partial epilepsies. Newer SPECT technologies using brain dedicated multiple detector systems have not been fully evaluated. To study the usefulness of an optimized S...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00020-b
更新日期：1995-06-01 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：: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：:Jasmine flowers and leaves are used extensively in folk medicine in different parts of the world to treat a variety of diseases. However, there are very few published reports on the neuropsychiatric effects of Jasmine extracts. Hence, the objectives of the present study were to examine the effects of an alcohol extrac...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.012
更新日期：2017-03-01 00:00:00
abstract：:The common features of all types of epilepsy are the synchronized and uncontrolled discharges of nerve cell assemblies. The reason for the pathologically synchronized discharges of the neuron is not exactly known yet. Recent reports claim that gap junctions have a critical role in neuronal synchronization. The present...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.06.010
更新日期：2006-10-01 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：: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
abstract：:The compound 5-(4-chlorophenyl)-2,4-dihydro-4-ethyl-3H-1,2,4-triazol-3-one (MDL 27,192) was evaluated in a variety of rodent models to assess its anticonvulsant profile and its potential neuroprotective activity. MDL 27,192 demonstrated anticonvulsant activity in a wide range of epilepsy models that are genetically-ba...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(96)01020-0
更新日期：1997-04-01 00:00:00
abstract：:Posttraumatic epilepsy (PTE) has been modeled with different techniques of experimental traumatic brain injury (TBI) using mice and rats at various ages. We hypothesized that the technique of controlled cortical impact (CCI) could be used to establish a model of PTE in young adult rats. A total of 156 male Sprague-Daw...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.09.009
更新日期：2015-11-01 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
