Abstract:
PURPOSE:Benign rolandic epilepsy (BRE) is considered a genetically determined idiopathic partial epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology. METHODS:Large population-based twin registries of epilepsies from Odense (Denmark), Richmond, Virginia (United States), and Oslo (Norway) were reviewed for BRE cases and added to our Australian twin data. Diagnosis of classic BRE was based on electroclinical criteria with normal neurologic development. Cases with a compatible electroclinical picture but abnormal neurologic development were termed non-classic BRE. RESULTS:Eighteen twin pairs were identified (10 monozygous; eight dizygous) of whom at least one twin was diagnosed with classic BRE among a total sample of 1,952 twin pairs validated for seizures, and all were discordant for BRE. The estimated monozygous pairwise concordance for BRE in this sample was 0.0 [95% confidence interval (CI), 0.0-0.3). Four twin pairs (one monozygous, three dizygous) had non-classic BRE, and all co-twins had seizures. CONCLUSIONS:The twin data showing an absence of any concordant twin pairs with classic BRE suggest that noninherited factors are of major importance in BRE. Modelling the data shows that the familial occurrence of centrotemporal spikes makes only a minor contribution to the familial aggregation of BRE. Genetic factors are probably more important in non-classic BRE. The etiology and mode(s) of inheritance of BRE are much more complicated than initially conceptualized.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Vadlamudi L,Kjeldsen MJ,Corey LA,Solaas MH,Friis ML,Pellock JM,Nakken KO,Milne RL,Scheffer IE,Harvey AS,Hopper JL,Berkovic SFdoi
10.1111/j.1528-1167.2006.00466.xsubject
Has Abstractpub_date
2006-03-01 00:00:00pages
550-5issue
3eissn
0013-9580issn
1528-1167pii
EPI466journal_volume
47pub_type
杂志文章,多中心研究相关文献
EPILEPSIA文献大全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:To demonstrate the anatomic localization of the cortical sources of the interictal EEG activity in human idiopathic generalized epilepsy (IGE). METHODS:Multiple cortical and hippocampal sources of the interictal spontaneous EEG activity were investigated by low-resolution electromagnetic tomography in 15 untre...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2007.01030.x
更新日期:2007-05-01 00:00:00
abstract:OBJECTIVE:Self-management challenges facing adults with epilepsy include limited understanding of the condition and treatment, associated psychosocial issues, and lack of community integration. Self-management interventions improve patients' medical, life role, and emotional management. Previous interventions, develope...
journal_title:Epilepsia
pub_type: 杂志文章,随机对照试验
doi:10.1111/epi.13052
更新日期:2015-08-01 00:00:00
abstract:PURPOSE:The objective of this study was to evaluate the effect of a new antiseizure drug, retigabine (D-23129; N-(2-amino-4-[fluorobenzylamino]-phenyl) carbamic acid ethyl ester) on low-Mg2+-induced epileptiform discharges in rat in vitro. METHODS:Three types of epileptiform discharges (recurrent short discharges in t...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.2000.tb01501.x
更新日期:2000-01-01 00:00:00
abstract::Kindling of the cingulate cortex in the Senegalese baboon Papio papio led to a protracted nonconvulsive seizure state characterized by immobile staring with (anterior cingulate, AC) or without (posterior cingulate, PC) widening of eyelids and neck flexion, followed by postictal visual searching behavior. Despite early...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1995.tb00474.x
更新日期:1995-11-01 00:00:00
abstract::The mechanism by which animals develop tolerance to the antiepileptic effects of the carbonic anhydrase (CA) inhibitor, acetazolamide, was explored using a quantitative immunocytochemical method. Cerebral cortex sections of DBA/2J mice susceptible to audiogenic seizures and of C57BL/6J nonsusceptible mice were stained...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1986.tb03576.x
更新日期:1986-09-01 00:00:00
abstract::We sought to determine if there are differences in the incidence of seizure disorders between the children of the indigenous and immigrant (predominantly Pakistani) populations of Bradford, United Kingdom. Annual incidence rates per 100,000 for new onset seizures were calculated along with Townsend deprivation scores....
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2007.01097.x
更新日期:2007-05-01 00:00:00
abstract:PURPOSE:Psychogenic nonepileptic seizures (PNES) are among the most common clinical manifestations of conversion disorder and consist of paroxysmal behavior that resembles epileptic seizures. Preliminary data from functional neuroimaging studies gave plausible evidence that limbic circuits and sensorimotor cortex might...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2011.03347.x
更新日期:2012-02-01 00:00:00
abstract:PURPOSE:Patients with Alzheimer's disease (AD) have an increased risk of developing seizures or epilepsy. Little is known about the role of risk factors and about the risk of developing seizures/epilepsy in patients with vascular dementia (VD). The aim of this study was to assess incidence rates (IRs) of seizures/epile...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12045
更新日期:2013-04-01 00:00:00
abstract::Estrogens are essential for normal brain functions. The effects of estrogens on seizures are contradictory. More studies are necessary to determine under which conditions the estrogens have proconvulsant effects and when the estrogens may have beneficial action in patients with epilepsy. ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2010.02629.x
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVE:To determine if three different commercially available seizure-detection software packages (Besa 2.0, Encevis 1.7, and Persyst 13) accurately detect seizures with high sensitivity, high specificity, and short detection delay in epilepsy patients undergoing long-term video-electroencephalography (EEG) monitori...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.16812
更新日期:2021-01-19 00:00:00
abstract::The success of surgery for seizure focus resection depends on postoperative reduction or disappearance in number of seizures, improvement in psychosocial functioning, and low morbidity and mortality. Permanent neurologic sequelae are most often not discussed in this context. Deficits more than a superior quadrantanops...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1987.tb03654.x
更新日期:1987-07-01 00:00:00
abstract:PURPOSE:Several experimental paradigms of seizure induction that produce epilepsy as a consequence have been shown to be associated with the proliferation of dentate granule cells. In developing animals, the acute sequela of hilar damage and the chronic sequelae of spontaneous seizures and mossy fiber synaptic reorgani...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.2000.tb01557.x
更新日期:2000-01-01 00:00:00
abstract::The diagnostic goals in nonsurgical (conservative) epileptology differ from presurgical diagnostic aims. The resulting development of diagnostic methods in a tertiary-level epilepsy center is shown and the major technical and organizational consequences of this difference for diagnostic long-term monitoring (LTM) as o...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.2000.tb01528.x
更新日期:2000-01-01 00:00:00
abstract:PURPOSE:The aim of this study was to examine the impact of clinical variables, particularly age at onset of epilepsy, on intellectual function in a group of children with temporal lobe epilepsy (TLE). METHODS:We reviewed the preoperative neuropsychological test results of 79 children with unilateral TLE who subsequent...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2006.00904.x
更新日期:2007-01-01 00:00:00
abstract::Twenty-one cases (12 males, 9 females) of Lafora's disease in 16 families were studied at the National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India, from 1982 to 1990. Mean age of onset was 13.5 years (range 9.5-18 years). First symptom was generalized tonic-clonic seizure (17), myoclonus ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1993.tb02588.x
更新日期:1993-05-01 00:00:00
abstract:OBJECTIVE:To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015. METHODS:We collected information on volumes and types of surgery, pathology, and seizure outcome from 20 recognized epilepsy surgery reference centers in 10 European countries. RESULTS:We analyzed retrospectiv...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.16414
更新日期:2020-02-01 00:00:00
abstract::The aim was to systematically review studies that have focused on symptoms of anxiety reported by parents of children (0-18 years) with epilepsy. PubMed was used to identify relevant studies. Selected studies were reviewed with respect to prevalence of above threshold scores and comparisons with controls on standardiz...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.13326
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:Common data elements (CDEs) are currently unavailable for mobile health (mHealth) in epilepsy devices and related applications. As a result, despite expansive growth of new digital services for people with epilepsy, information collected is often not interoperable or directly comparable. We aim to correct thi...
journal_title:Epilepsia
pub_type: 共识发展会议,杂志文章
doi:10.1111/epi.14066
更新日期:2018-05-01 00:00:00
abstract::The combination of phenobarbital (PB) and phenytoin (PHT) was recommended for many years for treatment of epilepsy in humans. We tested the effectiveness of the combination in a model of hippocampal seizures termed maximal dentate activation (MDA). Two parameters of MDA were measured: duration and time to onset. Neith...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1994.tb02936.x
更新日期:1994-01-01 00:00:00
abstract:PURPOSE:Epilepsy is a major clinical and social issue in Africa. This study was conducted to estimate the prevalence, incidence, mortality, and therapeutic outcome in rural Djidja in Benin. METHODS:This was a two-phase study with a cross-sectional phase and 18 months of follow-up. In the first phase, information was o...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12082
更新日期:2013-04-01 00:00:00
abstract:PURPOSE:Synaptic vesicle protein 2A (SV2A), the binding site for the antiepileptic drug (AED) levetiracetam, has been shown to be involved in the control of neuronal excitability. The aim of the study was to define the expression and cell-specific distribution of SV2A in developmental focal lesions associated with medi...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2008.01955.x
更新日期:2009-06-01 00:00:00
abstract:PURPOSE:Status epilepticus (SE) is more common in children than adults and has a high mortality and morbidity rate. SE in adult rats results in long-term disturbances in learning and memory, as well as an enhanced seizure susceptibility to further seizures. In contrast, a number of studies suggest that the immature bra...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2003.48802.x
更新日期:2003-04-01 00:00:00
abstract::The presence of the excitotoxic and convulsant agent quinolinic acid (QUIN) in human brain has led to the hypothesis that an increase of this tryptophan metabolite could serve as an endogenous epileptogen. A possible mechanism for a pathological accumulation of QUIN being a deficiency in its degradation, we have measu...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1988.tb03756.x
更新日期:1988-09-01 00:00:00
abstract::Astrocyte and microglial activation occurs following seizures and plays a role in epileptogenesis. However, the precise temporal and spatial response to seizures has not been fully examined. The pilocarpine model of temporal lobe epilepsy was selected to examine glial changes following seizures because morphological c...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2008.01491.x
更新日期:2008-01-01 00:00:00
abstract:PURPOSE:Angelman syndrome (AS) is a neurogenetic disorder characterized by developmental delay and a frequently refractory epileptic condition. Valproate, clonazepam and/or phenytoin are said to be the most effective antiepileptic drugs (AEDs) against the seizures in AS. Experience with the newer AEDs is very limited d...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1528-1167.2006.00969.x
更新日期:2007-03-01 00:00:00
abstract::Accurate identification of cortical malformations in children with epilepsy can be crucial for successful clinical management. Although standard head-coil magnetic resonance imaging (MRI) at 1.5 tesla (T) can be used to view the macrostructure of the brain, phased array technology at both 1.5 and 3T significantly impr...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2005.00303.x
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:Organophosphates (OPs) are commonly used insecticides for agriculture and domestic purposes, but may also serve as nerve agents. Exposure to OPs result in overstimulation of the cholinergic system and lead to status epilepticus (SE), a life-threatening condition that is often resistant to treatment. SE is ass...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.12838
更新日期:2014-12-01 00:00:00
abstract:PURPOSE:The rat electrical amygdala kindling model is one of the most widely studied animal models of temporal lobe epilepsy (TLE); however, the processes underlying epileptogenesis in this model remain incompletely understood. Magnetic resonance imaging (MRI) is a powerful method to investigate epileptogenesis, allowi...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2006.00368.x
更新日期:2006-01-01 00:00:00
abstract:PURPOSE:It remains controversial whether a specific pattern of interictal epileptiform activity exists that may help to differentiate temporal lobe epilepsy (TLE) due to hippocampal sclerosis (HS) from other forms of TLE. In this study, we characterized the distribution of interictal epileptiform discharges in TLE due ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1999.tb00856.x
更新日期:1999-09-01 00:00:00