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 microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years. Polymerase chain reaction (PCR) and Sanger sequencing was performed to detect variants in all 10 coding exons and splice site regions of the SLC2A1 gene. We did not detect any pathogenic mutations in SLC2A1 in this cohort. Our data suggests that the frequency of GLUT1 mutations in NAFE is low. Limitations of this study include the mean age of onset and cohort size. Future research should focus on subpopulations of focal epilepsy with lower age of seizure onset particularly with co-existent movement disorders in which GLUT1 mutations may play a more important role.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Peeraer A,Damiano JA,Bellows ST,Scheffer IE,Berkovic SF,Mullen SA,Hildebrand MSdoi
10.1016/j.eplepsyres.2017.04.007subject
Has Abstractpub_date
2017-07-01 00:00:00pages
54-57eissn
0920-1211issn
1872-6844pii
S0920-1211(16)30347-3journal_volume
133pub_type
杂志文章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：: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：:Four patients with complex partial seizure disorder whose positron emission tomography (PET) scans show sustained hyperperfusion of the epileptiform focus 12-24 h after a seizure episode are presented. Three of these patients underwent same day Fluorine-18 (18F) deoxyglucose (FDG) PET scans, which showed hypometabolis...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(00)00135-2
更新日期：2000-12-01 00:00:00
abstract：:Multiple subpial transection (MST) is an effective surgical therapy for patients with intractable seizures whose epileptogenic lesions lie in the cortex and are unresectable. Morrell developed this procedure and reported clinical results obtained using it. However, only the disappearance of epileptiform discharges aft...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00003-s
更新日期：1995-05-01 00:00:00
abstract：:Epilepsy affects about 1 % of the world population. Mesial temporal lobe epilepsy (mTLE) presents with seizures initiated in hippocampus and is the most frequent form of epilepsy. About 30 % of individuals with mTLE do not respond to conventional medications maintaining seizures and consequently new lesions on a daily...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106427
更新日期：2020-10-01 00:00:00
abstract：:An intravenous formulation of carbamazepine (CBZ) was administered to 113 (60 male; 53 female) persons with epilepsy aged 19-87 years. Subjects received 100mg of study drug as replacement for 100mg of their usual morning dose of CBZ. There were no significant changes in blood pressure or heart rate suggesting that thi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.01.013
更新日期：2009-04-01 00:00:00
abstract：:Hemimegalencephaly (HME) is a severe unilateral brain malformation the prognosis of which may be improved by hemispherectomy. HME also provides a unique opportunity to compare normal and pathological hemispheric function in the same patient. We performed a serial functional cerebral imaging study in a child suffering ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(91)90069-r
更新日期：1991-04-01 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 investigational anticonvulsant drug, gabapentin (GP; 1-(aminomethyl) cyclohexaneacetic acid) limited repetitive firing of sodium-dependent action potentials of mouse spinal cord and neocortical neurons in monolayer dissociated cell culture. The effect developed slowly over time with sustained exposure. The IC50 wa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90074-4
更新日期：1994-01-01 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 aim of the present study was to evaluate the risk of intrauterine growth delay in the offspring of epileptic mothers and to quantify the risks of intrauterine exposure to antiepileptic drugs (AEDs). Data concerning 870 newborns, prospectively collected in Canada, Japan and Italy, using the same study design, were ...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/s0920-1211(99)00020-0
更新日期：1999-08-01 00:00:00
abstract：PURPOSE:We performed this study to evaluate the frequency, types, and ictal electroencephalography (EEG) findings of coexisting seizures in patients with infantile spasms at the onset of spasms. We also evaluated the effect of coexisting seizures on short-term seizure control. METHODS:We retrospectively reviewed the l...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.03.003
更新日期：2012-08-01 00:00:00
abstract：RATIONALE:In a search for potential supplements or alternatives to the pharmacological treatment of epilepsy, we examined the effects of static magnetic fields on audiogenic seizures of DBA/2 mice. METHODS:Two strains of DBA/2 mice were subjected to auditory stimulation that resulted sequentially in wild running, loss...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(03)00109-8
更新日期：2003-06-01 00:00:00
abstract：:Treatment of epileptic patients with valproic acid (VPA) may be associated with substantial weight changes that may increase morbidity and impair adherence to the treatment regimen. VPA-induced weight gain seems to be associated with many metabolic disturbances; the most frequent are hyperinsulinemia and insulin resis...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2013.08.016
更新日期：2013-11-01 00:00:00
abstract：:The GABAergic system has long been implicated in epilepsy with defects in GABA neurotransmission being linked to epilepsy in both experimental animal models and human syndromes (Olsen and Avoli, 1997). However, to date no human epileptic syndrome has been directly attributed to an altered GABAergic system. The observe...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(99)00046-7
更新日期：1999-09-01 00:00:00
abstract：:Two hundred and thirty-five patients suffering from newly diagnosed epilepsy were randomly allocated to treatment with either oxcarbazepine or carbamazepine in a double-blind multi-centre study. After a titration phase (between 4 and 8 weeks), the optimal individual dose of trial medication was determined and treatmen...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/0920-1211(89)90070-3
更新日期：1989-01-01 00:00:00
abstract：BACKGROUND:GRIN-related developmental-epileptic encephalopathies are associated with a spectrum of neurodevelopmental disorders, including intellectual disability, epilepsy including continuous spike-and-wave during sleep syndrome (CSWS), or epilepsy-aphasia spectrum phenotypes such as in Landau-Kleffner syndrome. Effi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106325
更新日期：2020-07-01 00:00:00
abstract：:Recently, mutations of KCNQ2 or KCNQ3, members of the KCNQ-related K(+)-channel (KCNQ-channel) family, were identified as cause of benign familial neonatal convulsions (BFNC). However, the exact pathogenic mechanisms of age-dependent development and spontaneous remission of BFNC remain to be elucidated. To clarify the...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00249-8
更新日期：2003-02-01 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：:Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau, M., 1981. The benign myoclonic epilepsy of infancy. Rev. Elecroencephalogr. Neurophysiol. Clin. 11, 438-444]. This includes 23 infants with reflex my...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2006.01.014
更新日期：2006-08-01 00:00:00
abstract：OBJECTIVE:to determine the feasibility as well as the attitudes among caregivers of children and adolescents with epilepsy in China towards the use of smart phone applications (apps) for the management of seizures. METHODS:The caregivers of children and adolescents with epilepsy, ages ranging from 0 to 15 years, were ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.08.002
更新日期：2016-11-01 00:00:00
abstract：PURPOSE:The present study was undertaken to clarify the participation of the GABA-ergic system in epileptogenic activity induced by teicoplanin. METHODS:Under pentobarbital anesthesia, mice were fixed to a stereotaxic apparatus, and stainless steel electrodes were implanted into the frontal cortex (FCOR), hippocampus ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.01.006
更新日期：2009-04-01 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：:The deletion of a sodium channel gene cluster located on chromosome 2q24.3 is associated with variable epilepsy phenotypes, including Dravet syndrome and migrating partial seizures of infancy. Although SCN1A is considered as the major contributor to the epilepsy phenotype, the role of other sodium channel genes that m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.10.008
更新日期：2015-01-01 00:00:00
abstract：RATIONALE:Measurement of local cerebral blood flow (LCBF) is routinely used to locate the areas involved in the generation and spread of seizures in epileptic patients. Since the spatial distribution and extent of ictal LCBF depends on the epileptogenic network, but also on the timing of injection of tracer, we used a ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.01.008
更新日期：2006-05-01 00:00:00
abstract：:Absence seizures are thought to be linked to abnormal interplays between regions of a thalamocortical network. However, the complexity of this widespread network makes characterizing the functional interactions among various brain regions challenging. Using whole-brain functional connectivity and network analysis of m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.06.001
更新日期：2018-09-01 00:00:00
abstract：:In rats, the concurrent alternate elicitation of epileptiform activity in two forebrain structures can result in both the rapid production of severe seizures and the development of fully generalized seizures in one (dominant) site, while arresting the progress of seizure activity at intermediate stages in the other (s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00103-x
更新日期：1999-04-01 00:00:00
abstract：PURPOSE:The present study was planned as there is paucity of outcome data of children with infantile spasms, from India where profile of patients is different from the western world. Moreover, most previous studies have either not used strict inclusion criteria or standardized psychometric tests for developmental outco...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.12.009
更新日期：2014-03-01 00:00:00
abstract：OBJECTIVE:We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS:Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patie...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106222
更新日期：2019-12-01 00:00:00
abstract：:Kindling, in the classical sense, involves progressively increasing responsivity to the intermittent repetition of the same 1-s subthreshold electrical stimulation over time, with the amygdala being the area most frequently studied. Such repeated subthreshold stimulation is associated with: lowering of the after-disch...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(02)00081-5
更新日期：2002-06-01 00:00:00
