Abstract:
:Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, severe myoclonic epilepsy of infancy). Most of these mutations are in the SCN1A gene, and all are dominantly inherited. Most of the mutations that cause DS result in loss of function, whereas all of the known mutations that cause GEFS+ are missense, presumably altering channel activity. Family members with the same GEFS+ mutation often display a wide range of seizure types and severities, and at least part of this variability likely results from variation in other genes. Many different biophysical effects of SCN1A-GEFS+ mutations have been observed in heterologous expression systems, consistent with both gain and loss of channel activity. However, results from mouse models suggest that the primary effect of both GEFS+ and DS mutations is to decrease the activity of GABAergic inhibitory neurons. Decreased activity of the inhibitory circuitry is thus likely to be a major factor contributing to seizure generation in patients with GEFS+ and DS, and may be a general consequence of SCN1A mutations.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Escayg A,Goldin ALdoi
10.1111/j.1528-1167.2010.02640.xsubject
Has Abstractpub_date
2010-09-01 00:00:00pages
1650-8issue
9eissn
0013-9580issn
1528-1167journal_volume
51pub_type
杂志文章,评审相关文献
EPILEPSIA文献大全abstract:PURPOSE:Children with epilepsy have high rates of behavior problems. The purpose was to describe prospectively the association of seizures and behavior problems in children with new-onset seizures. METHODS:Subjects were 224 children with new-onset seizures (aged 4-14 years) and 159 siblings (4-18 years). Caregiver's r...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2002.26002.x
更新日期:2002-12-01 00:00:00
abstract:PURPOSE:To study the anticonvulsant action of a gamma-aminobutyric acid (GABA) uptake inhibitor NNC-711 in two models of cortical epileptogenesis in immature rats. METHODS:Twelve-, 18-, and 25-day-old rat pups with implanted electrodes were used in this study. Epileptogenic foci were elicited by a local application of...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1999.tb00846.x
更新日期:1999-09-01 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::Epilepsy-prone and epilepsy-resistant substrains were selectively bred from a strain of BALB/c mice; audiogenic-sensitive epilepsy-prone animals showed enhanced sensitivity to chemical convulsants. Treatment with pyridoxine (100 mg/L in drinking water) initiated at mating and continued throughout pregnancy and the lif...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1993.tb02373.x
更新日期:1993-01-01 00:00:00
abstract::A 30-year-old man with long-standing localization-related epilepsy and mental retardation had seizures that were partially controlled with valproate (VPA) 500 mg four times daily. Routine examination showed severe thrombocytopenia with mild leukopenia and chronic low-grade hemolytic anemia. Pertinent laboratory result...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1994.tb02927.x
更新日期:1994-01-01 00:00:00
abstract:PURPOSE:Vigabatrin (VGB) and lamotrigine (LTG) are two new antiepileptic drugs (AEDs) with different mechanisms of action for treatment of refractory epilepsies. Previous reports have indicated efficacy of both drugs in a number of epileptic syndromes. METHODS:We compared these new AEDs drugs to determine their respec...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1998.tb01184.x
更新日期:1998-08-01 00:00:00
abstract::This chapter covers the syndromes of benign epilepsy with centrotemporal spikes (BECTS), nonlesional focal epilepsy in otherwise normal children (NLFN), and the genetic generalized epilepsies. BECTS is an epilepsy syndrome that always enters terminal remission before the general age of a planned transition of adolesce...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.12706
更新日期:2014-08-01 00:00:00
abstract::Optogenetics is a novel technology that combines optics and genetics by optical control of microbial opsins, targeted to living cell membranes. The versatility and the electrophysiologic characteristics of the light-sensitive ion-channels channelrhodopsin-2 (ChR2), halorhodopsin (NpHR), and the light-sensitive proton ...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.12804
更新日期:2014-11-01 00:00:00
abstract:OBJECTIVE:Few studies have examined the long-term sustainability of complete seizure freedom on the ketogenic diet (KD). The purpose of this study was to describe the risk of seizure recurrence in children who achieved at least 1 month of seizure freedom on the KD, and to assess clinical features associated with sustai...
journal_title:Epilepsia
pub_type: 杂志文章,随机对照试验
doi:10.1111/epi.12583
更新日期:2014-04-01 00:00:00
abstract::Infantile spasms begin in a very active phase of brain development. The new neuropathological techniques have shed light on changes in the fine structure of brain in children with infantile spasms. An understanding of the action of adrenocorticotropic hormone on the biochemistry and development of the brain provides, ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1983.tb04875.x
更新日期:1983-04-01 00:00:00
abstract:OBJECTIVE:A large-scale, double-blind trial (SP0993; NCT01243177) demonstrated that lacosamide was noninferior to controlled-release carbamazepine (carbamazepine-CR) in terms of efficacy, and well tolerated as first-line monotherapy in patients (≥16 years of age) with newly diagnosed epilepsy. We report primary safety ...
journal_title:Epilepsia
pub_type: 杂志文章,随机对照试验
doi:10.1111/epi.16381
更新日期:2019-12-01 00:00:00
abstract:PURPOSE:The Parry-Romberg syndrome is an unusual disorder frequently associated with epilepsy. The origin of this disease, and the cause of epilepsy, are unknown. This study is the first reported case of the Parry-Romberg syndrome, with intractable temporal lobe epilepsy, in which detailed microanatomic analyses have b...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2001.45800.x
更新日期:2001-09-01 00:00:00
abstract::Temporal lobe epilepsy (TLE) is the most common focal epilepsy in adults. TLE has a high chance of becoming medically refractory, and as such, is frequently considered for further evaluation and surgical intervention. Up to 30% of TLE cases, however, can have normal ("nonlesional" or negative) magnetic resonance imagi...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.13699
更新日期:2017-05-01 00:00:00
abstract::We describe the pattern of early childhood seizures within a family with autosomal dominant chondrocalcinosis (CCAL, which causes adult-onset arthritis). All affected family members with CCAL experienced seizures in early childhood, usually, but not always, associated with fever. Similarities exist to the syndrome of ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.0013-9580.2004.19504.x
更新日期:2004-10-01 00:00:00
abstract::The clinical identification of neonatal seizures is critical for the recognition of brain dysfunction; however, diagnosis is often difficult because of the poorly organized and varied nature of these behaviors. Current classification systems are limited in their ability to communicate motor, autonomic, and electroence...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/j.1528-1157.1987.tb05757.x
更新日期:1987-01-01 00:00:00
abstract:PURPOSE:Our goal was to study the anticonvulsant action of tiagabine (TGB) at different levels of brain maturation in rats. METHODS:Wistar rats in five age groups (7, 12, 18, 25, and 90 days old) were injected intraperitoneally with TGB at doses of 0.5-32 mg/kg. Thirty minutes later, motor seizures were induced by the...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.2000.tb00112.x
更新日期:2000-11-01 00:00:00
abstract::Cinromide (BW-122U) was evaluated in an open pilot study of absence seizures in three naive (previously untreated for absence seizures) patients (one male and two females, 7 to 8 years of age). In these naive patients, cinromide was found to be well tolerated but ineffective in reducing generalized spike-and-wave disc...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1983.tb04911.x
更新日期:1983-08-01 00:00:00
abstract::Since it was originally described nearly 70 years ago, insular epilepsy has been increasingly recognized and may explain failures after apparently well-planned operations. We review the history of awareness of the phenomenon, techniques for its assessment, and its surgical management. Insular epilepsy can mimic featur...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.13682
更新日期:2017-04-01 00:00:00
abstract:PURPOSE:High-dose i.v. opioids (e.g., alfentanil, 50 microg/kg bolus) are known to increase the intraoperative reading of epileptiform activity during epilepsy surgery (ES), thereby facilitating localization of the epileptogenic zone (i.e., the site of ictal onset and initial seizure propagation). However, this phenome...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1046/j.1528-1157.2001.05901.x
更新日期:2001-10-01 00:00:00
abstract::The epilepsy community increasingly recognizes the need for a modern classification system that can also be easily integrated with effective informatics tools. The 2010 reports by the United States President's Council of Advisors on Science and Technology (PCAST) identified informatics as a critical resource to improv...
journal_title:Epilepsia
pub_type: 杂志文章,评审
doi:10.1111/epi.12211
更新日期:2013-08-01 00:00:00
abstract::A number of factors have contributed to improvements in the care of epilepsy during the past decade, including the International League Against Epilepsy classifications, therapeutic antiepileptic drug (AED) monitoring and the concept of monotherapy, new AEDs with novel mechanisms of action, and new insights into etiol...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1995.tb06012.x
更新日期:1995-01-01 00:00:00
abstract::The incidence of idiopathic/cryptogenic epilepsy and isolated unprovoked seizures has been relatively stable in the population of Rochester, Minnesota, for the 50-year period 1935 through 1984. In each decade, the age-specific rates exhibited a consistent U-shaped pattern of decreasing rates from infancy to age 40-49 ...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1995.tb02570.x
更新日期:1995-06-01 00:00:00
abstract::Many patients with medically refractory epilepsy now undergo successful surgery based on noninvasive diagnostic information, but intracranial electroencephalography (IEEG) continues to be used as increasingly complex cases are considered surgical candidates. The indications for IEEG and the modalities employed vary ac...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.13515
更新日期:2016-11-01 00:00:00
abstract::The duration of epilepsy was evaluated in over 460 previously untreated patients who attended newly established epilepsy clinics in a rural area of Malawi. The mean duration at first attendance was 6.5 years. It was found that as the duration of active epilepsy increased, the number of patients having epilepsy of a gi...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1157.1992.tb01692.x
更新日期:1992-05-01 00:00:00
abstract:PURPOSE:To conduct the first randomized trial on classical and medium-chain triglyceride (MCT) versions of the ketogenic diet, examining efficacy and tolerability after 3, 6, and 12 months. METHODS:One hundred forty-five children with intractable epilepsy were randomized to receive a classical or an MCT diet. Seizure ...
journal_title:Epilepsia
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1528-1167.2008.01870.x
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:Interictal spikes are a characteristic feature of invasive electroencephalography (EEG) recordings in children with refractory epilepsy. Spikes frequently co-occur across multiple brain regions with discernable latencies, suggesting that spikes can propagate through distributed neural networks. The purpose of...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/epi.14720
更新日期:2019-05-01 00:00:00
abstract:PURPOSE:The study was conducted to determine the familiarity with, knowledge of, misunderstandings, and attitudes toward epilepsy among the Kuwaiti population. METHODS:A pretested questionnaire was used to collect data from a sample of 784 Kuwaiti individuals, selected from five governorates in Kuwait using a multista...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2007.01433.x
更新日期:2008-04-01 00:00:00
abstract::We report identical twins with supernumerary ring chromosome 19 mosaicism, who had severe refractory epilepsy at an early age. The epilepsy was dominated largely by severe life-threatening tonic seizures. Both twins died, likely as a consequence of their severe epilepsy. They displayed no dysmorphic features. Eight ca...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.0013-9580.2004.00304.x
更新日期:2004-08-01 00:00:00
abstract::The anticonvulsant hypersensitivity syndrome (AHS) is an idiosyncratic immunologic reaction to certain anticonvulsant medications, in which internal organ involvement may lead to fatal multisystemic failure. This syndrome has been associated with the use of aromatic ring-containing agents such as phenytoin, carbamazep...
journal_title:Epilepsia
pub_type: 杂志文章
doi:10.1111/j.1528-1167.2008.01720.x
更新日期:2008-12-01 00:00:00
abstract:PURPOSE:We evaluated the dose-related impacts of tiagabine (TGB) on cognition and mood in a monotherapy study. METHODS:Patients were 123 adults with uncontrolled partial seizures, each treated with a single currently available antiepileptic drug (AED) for management of clinical epilepsy. They completed a battery of ne...
journal_title:Epilepsia
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1111/j.1528-1157.1998.tb01271.x
更新日期:1998-01-01 00:00:00