Abstract:
PURPOSE:Previous quantitative trait loci (QTL) mapping studies from our laboratory identified a 6.6 Mb segment of distal chromosome 1 that contains a gene (or genes) having a strong influence on the difference in seizure susceptibility between C57BL/6 (B6) and DBA/2 (D2) mice. A gene transfer strategy involving a bacterial artificial chromosome (BAC) DNA construct that contains several candidate genes from the critical interval was used to test the hypothesis that a strain-specific variation in one (or more) of the genes is responsible for the QTL effect. METHODS:Fertilized oocytes from a seizure-sensitive congenic strain (B6.D2-Mtv7a/Ty-27d) were injected with BAC DNA and three independent founder lines of BAC-transgenic mice were generated. Seizure susceptibility was quantified by measuring maximal electroshock seizure threshold (MEST) in transgenic mice and nontransgenic littermates. RESULTS:Seizure testing documented significant MEST elevation in all three transgenic lines compared to littermate controls. Allele-specific RT-PCR analysis confirmed gene transcription from genome-integrated BAC DNA and copy-number-dependent phenotypic effects were observed. CONCLUSIONS:Results of this study suggest that the gene(s) responsible for the major chromosome 1 seizure QTL is found on BAC RPCI23-157J4 and demonstrate the utility of in vivo gene transfer for studying quantitative trait genes in mice. Further characterization of this transgenic model will provide new insight into mechanisms of seizure susceptibility.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Ferraro TN,Golden GT,Dahl JP,Smith GG,Schwebel CL,MacDonald R,Lohoff FW,Berrettini WH,Buono RJdoi
10.1111/j.1528-1167.2007.01126.xsubject
Has Abstractpub_date
2007-09-01 00:00:00pages
1667-1677issue
9eissn
0013-9580issn
1528-1167journal_volume
48pub_type
杂志文章相关文献
EPILEPSIA文献大全abstract::Forty-five outpatients with chronic epilepsy with complex partial seizures (CPS) alone or associated with secondarily generalized tonic-clonic seizures (SGTCS) were treated with carbamazepine (CBZ) monotherapy. All patients had only a unilateral scalp electroencephalographic (EEG) focus. Left- (n = 29) and right- (n =...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1991.tb04713.x
更新日期:1991-09-01 00:00:00
abstract:PURPOSE:Accurate classification of epileptic seizures, epilepsies, and epilepsy syndromes is mandatory in both clinical practice and epilepsy research. In 2010, the International League Against Epilepsy (ILAE) proposed a new classification scheme. The aim of this study is to determine whether application of this new cl...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12111
更新日期:2013-04-01 00:00:00
abstract::The 1981 International Classification of Epileptic Seizures (ICES) was used to study the distribution of seizure types in 1,250 patients attending an Epilepsy Clinic in Sri Lanka. Based on seizure symptomatology 94.6% of the cases could be classified, and by adding the routine interictal EEG findings the percentage of...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1993.tb02095.x
更新日期:1993-09-01 00:00:00
abstract::We present a review of phenotype-genotype correlation and the genetics of photosensitivity. The photoparoxysmal response in EEG (PPR) is still one of the best paradigms for exogenously triggered brain responses based on a genetic predisposition. The definition of the PPR phenotype requires multiple, precise methodolog...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.0013-9580.2004.451008.x
更新日期:2004-01-01 00:00:00
abstract::A 73-year-old patient with hyperglycemia and rheumatoid arthritis presented with attacks of involuntary lingual movements that were associated with pain at the base of the tongue, often followed by aversion of head and eyes to the left with clonic contractions of the left corner of the mouth. Seizures could be induced...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1988.tb05094.x
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:Among children with epilepsy, to develop and evaluate a model to predict emergency department (ED) use, an indicator of poor disease control and/or poor access to care. METHODS:We used electronic health record data from 2013 to predict ED use in 2014 at 2 centers, benchmarking predictive performance against ...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究
doi:10.1111/epi.13948
更新日期:2018-01-01 00:00:00
abstract::The routine EEG study may prove inadequate in selected patients with recurrent and unprovoked seizures. Video-EEG monitoring is an important diagnostic innovation that may be used to confirm the diagnosis of a seizure disorder and classify seizure type. The methodologies and clinical applications of video-EEG monitori...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1046/j.1528-1157.43.s.3.14.x
更新日期:2002-01-01 00:00:00
abstract::Lowering extracellular magnesium induces different patterns of epileptiform activity in rat hippocampus and entorhinal cortex. Short recurrent epileptiform discharges in the hippocampus are stable over time, whereas seizure-like events (SLEs) in the entorhinal cortex, the subiculum, and the neighboring neocortex devel...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1994.tb05973.x
更新日期:1994-01-01 00:00:00
abstract:PURPOSE:This study examined the relation between psychiatric diagnosis and mental health services in children with epilepsy and the associated demographic, cognitive, linguistic, behavioral, and seizure-related variables. METHODS:The Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), the Child Behavio...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2003.25002.x
更新日期:2003-04-01 00:00:00
abstract::Management of epilepsy in the elderly requires understanding of the unique biochemical and pharmacologic characteristics of this patient population. Accurate assessment of seizures and identification of epilepsy syndromes, thorough neurologic assessment to define etiology, and comprehensive evaluation of the patient's...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1157.1995.tb06005.x
更新日期:1995-01-01 00:00:00
abstract:PURPOSE:Validity studies on health-related quality of life (HRQOL) scales for pediatric epilepsy are few, and cross-validation with other samples has not been reported. This study was designed to assess the validity of three parent-rated measures of HRQOL in pediatric epilepsy: (a) the Impact of Childhood Illness Scale...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2002.03602.x
更新日期:2002-10-01 00:00:00
abstract::Our study investigated public attitudes toward epilepsy, and knowledge and understanding of epilepsy in Hungary. We compared changes of public attitudes in the last six years, hypothesizing a trend of positive changes because of recent national initiatives for acceptance and integration of people with epilepsy (e.g., ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2001.18000.x
更新日期:2001-01-01 00:00:00
abstract:OBJECTIVE:To investigate the effects of antiepileptic drugs (AEDs; oxcarbazepine [OXC], levetiracetam [LEV], and lamotrigine [LTG]) on semen quality, sexual function, and sex hormones in male adults with epilepsy. METHODS:Individual treatment with OXC, LEV, or LTG was randomly assigned to 38 newly diagnosed male adult...
journal_title:Epilepsia
pub_type: 杂志文章,随机对照试验
doi:10.1111/epi.14450
更新日期:2018-07-01 00:00:00
abstract:OBJECTIVE:Low-frequency fiber-tract stimulation has been shown to be effective in treating mesial temporal lobe epilepsies through activation of the hippocampal commissure in rodents and human patients. The corpus callosum is a major pathway connecting the two hemispheres of the brain; however, few experiments have doc...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.14595
更新日期:2018-12-01 00:00:00
abstract::This article explores the historic underpinnings of the exclusion of women from clinical drug trials, identifies recent developments, and examines legal implications for women with epilepsy and for others. Distinguishing stakeholders and their interests may lead to policies that better serve all. Past and present stat...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1157.1997.tb04538.x
更新日期:1997-01-01 00:00:00
abstract:PURPOSE: Memory impairment is a common comorbidity in people with epilepsy-associated malformations of cortical development. We studied spatial memory performance and hippocampal synaptic plasticity in an animal model of cortical dysplasia. METHODS: Embryonic day 17 rats were exposed to 2.25 Gy external radiation. O...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2012.03431.x
更新日期:2012-05-01 00:00:00
abstract:PURPOSE:Brivaracetam (BRV) is a new anticonvulsant under development. Although BRV is an analog of levetiracetam (LEV), in addition to being an SV2A ligand, it also inhibits sodium channels in a voltage-dependent manner. The cognitive effects of BRV are uncertain. METHODS:A randomized, double-blind, placebo-controlled...
journal_title:Epilepsia
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1528-1167.2010.02746.x
更新日期:2011-02-01 00:00:00
abstract::To study the effect of age on seizure latency, intensity, reproducibility, and mortality in genetically epilepsy-prone rats of the severe colony (GEPR-9s), 472 seizure-naive rats, ranging in age from 14 to 65 days, received a series of three audiogenic stimulations. Both the percentage of rats having one or more seizu...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1991.tb05239.x
更新日期:1991-03-01 00:00:00
abstract:PURPOSE:Higher homocysteine levels were found in actively drinking patients with alcohol dependence. Recent studies have shown that high homocysteine levels are associated with alcohol-withdrawal seizures. The aim of the present study was to calculate the best predictive cutoff value of plasma homocysteine levels in ac...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2006.00560.x
更新日期:2006-05-01 00:00:00
abstract::Epilepsy can be a devastating disorder. In addition to debilitating seizures, epilepsy can cause cognitive and emotional problems with reduced quality of life. Therefore, the major aim is to prevent the disorder in the first place: identify, detect, and reverse the processes responsible for its onset, and monitor and ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13778
更新日期:2017-07-01 00:00:00
abstract::Functional magnetic resonance imaging (FMRI) detects signal changes in brain that accompany regional changes in neuronal activity. In normal human brain, FMRI shows changes in signal in the postcentral gyrus or superior temporal gyrus that correlate with voluntary motor activity or language processing, respectively. T...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1994.tb01788.x
更新日期:1994-11-01 00:00:00
abstract::Twenty-three infants and children underwent cortical resection (n = 15) or hemispherectomy (n = 8) for intractable infantile spasms. Infantile spasms were present at the time of surgery in 17 of the 23 patients; in six, spasms had evolved to other seizure types during surgical evaluation. Children with a remote histor...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1993.tb00459.x
更新日期:1993-07-01 00:00:00
abstract::A recent systematic synthesis of qualitative research demonstrated that patients with psychogenic nonepileptic seizures (PNES) often experience unsatisfactory encounters with health care practitioners (HCPs). It is important to understand such interactions from the perspective of those responsible for delivering care....
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.14189
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:The incidence of status epilepticus (SE) in Asian children, including Japanese, has not been reported. METHODS:In 2003, we performed an epidemiological study of SE on Japanese children (31 days or older to <15 years of age) in Okayama City by ascertaining all lifetime first episodes of SE. RESULTS:Thirty-s...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2007.01106.x
更新日期:2007-06-01 00:00:00
abstract:PURPOSE:Despite the reported diagnostic value of the intracarotid amobarbital procedure (IAP) or "Wada test" for determining hemispheric lateralization and memory functioning, it has never undergone formal reliability testing because a prospective test-retest study design is neither feasible nor ethical. However, some ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2011.03399.x
更新日期:2012-04-01 00:00:00
abstract:PURPOSE:To describe four patients with stimulus-sensitive seizures and myoclonus following severe hypoxic-ischemic injury. METHODS:In 22 months, four adult patients with myoclonus, generalized tonic-clonic, and clonic seizures following tactile stimulation were identified. EEG and hospital records were reviewed. RESU...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1996.tb00040.x
更新日期:1996-09-01 00:00:00
abstract::Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal-infantile seizure (BFNIS). We describe two large families with BFNIS and novel SCN2A mutations. The families had 12 and 9 affected individuals, respectively, with phenotypes consistent with BFNIS. Two mutat...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1528-1167.2007.01049.x
更新日期:2007-06-01 00:00:00
abstract::The performance of a new enzyme multiplied immunoassay technique (EMIT) was compared with other current methods, namely gas-liquid chromatography and thin-layer chromatography, for the determination of phenytoin and phenobarbital in serum. Forty-three serum samples were sent as unknowns to the participating laboratori...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1977.tb04979.x
更新日期:1977-09-01 00:00:00
abstract:OBJECTIVE:Nonadherence to prescribed dosing regimens is a significant problem in the treatment of pediatric and adult chronic epilepsy, and can result in severe consequences to patient outcomes. In this first-of-kind preclinical study, the impact of nonadherence on seizure control was studied by simulating human patter...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13742
更新日期:2017-06-01 00:00:00
abstract::The brain uptake index (BUI) method of Oldendorf was used to examine blood-brain barrier (BBB) drug transport in mice, rats, and rabbits; felbamate (FBM) extraction (E) in a single transcapillary passage was 5-20%, and drug uptake in rat brain was not concentration-dependent. Like diazepam, FBM was retained in mouse b...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1992.tb02205.x
更新日期:1992-09-01 00:00:00