Abstract：
:Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurologic inherited disease with heterogeneity. Autosomal dominant (AD) is the common inherited mode. There have been two loci mapped to 16 chromosome for PKD. However, no gene responsible for it has been identified so far. We collected 6 pedigrees from Chinese mainland. There were 122 members in all, including 26 affected. According to New diagnostic criteria of Bruno, they were diagnosed as pure PKD. From the clinic data, we found that the onset age was earlier and the severity was increasing in the subsequent generations in 4 pedigrees of them, which suggested genetic anticipation. Linkage analysis was applied in 2 of these pedigrees. The maximum LOD score and NPL score were negative. The followed haplotypes analysis excluded the PKD locus in both families from chromosome 16, providing evidence for a novel locus.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Zhou J,Li G,Chen C,Liu D,Xiao Bdoi
10.1016/j.eplepsyres.2008.04.012subject
Has Abstractpub_date
2008-08-01 00:00:00pages
171-9issue
2-3eissn
0920-1211issn
1872-6844pii
S0920-1211(08)00088-0journal_volume
80pub_type
杂志文章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：PURPOSE:To identify predictors of seizure-outcome after epilepsy surgery and validate the findings in an independent series of patients. To use the results to develop a predictive model. METHODS:Sequential patients undergoing resective surgery for medically intractable epilepsy were identified at Yale New Haven Hospit...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00083-1
更新日期：1998-02-01 00:00:00
abstract：:Clinical and epidemiological studies have repeatedly demonstrated that a subset of patients with epilepsy have progressive syndromes with increasing seizure frequency and cumulative adverse effects despite optimal anticonvulsant therapy. Recent longitudinal imaging studies and long-term neuropsychological studies have...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2004.07.001
更新日期：2004-07-01 00:00:00
abstract：INTRODUCTION:Epilepsy surgery is an effective treatment for refractory focal epilepsy. Risks of surgery need to be considered when advising individuals of treatment options. We describe the frequency and nature of physical adverse events associated with epilepsy surgery in a single center. MATERIAL AND METHODS:We revi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.016
更新日期：2017-05-01 00:00:00
abstract：:The Third Eilat Conference on New Antiepileptic Drugs was held at the Royal Beach Hotel from May 27 to May 30, 1996. Epileptologists and scientists from 20 countries attended the conference, which was held to discuss critical issues in drug development, new antiepileptic drugs (AEDs) in development, progress reports a...
journal_title：Epilepsy research
pub_type：
doi：10.1016/s0920-1211(96)00081-2
更新日期：1996-11-01 00:00:00
abstract：:Acute psychological disorders (APDs) are more common in epilepsy than in the general population, with estimates varying from 2 to 16% depending on the population of patients sampled. APD has traditionally been classified by seizure activity (ictal), the early post-ictal period (post-ictal) and unrelated to seizure act...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(96)00026-5
更新日期：1996-10-01 00:00:00
abstract：:The new antiepileptic drug zonisamide was evaluated in a European multicenter parallel-group double-blind trial as add-on treatment for 139 patients with refractory partial epilepsy. During treatment with zonisamide complex partial seizures decreased by 27.7% compared to placebo (P < 0.05) and the median rate dropped ...
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(93)90011-u
更新日期：1993-05-01 00:00:00
abstract：:Alterations in the level of consciousness may render the interpretation of the memory test results from the intracarotid amobarbital procedure difficult. The present study was designed to investigate the impact of inattention and somnolence on memory performance during the Amytal test. Nineteen consecutive patients un...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90079-9
更新日期：1992-09-01 00:00:00
abstract：:Although accumulating evidence indicates that the immunomodulatory medication thalidomide exerts anticonvulsant properties, the mechanisms underlying such effects of thalidomide are still unknown. Our previous preclinical study suggested that nitric oxide (NO) signaling may be involved in the anticonvulsant effects of...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106362
更新日期：2020-08-01 00:00:00
abstract：:The rat lateral fluid-percussion injury (FPI) model has been used extensively to study post-traumatic epilepsy (PTE). Epidemiological studies have reported that the risk of PTE is higher after more severe injury. Adult, male Wistar rats subjected to different atmospheric pressures of injury during FPI showed great var...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.09.005
更新日期：2018-11-01 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 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：PURPOSE:We investigated long term prognosis of Lennox-Gastaut syndrome (LGS) with active application of recent advanced treatment modalities such as ketogenic diet (KD) or epilepsy surgery (ES). METHODS:We retrospectively evaluated 68 patients with LGS, aged 18-35 years. We assessed seizure outcomes for a range of the...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.11.004
更新日期：2015-02-01 00:00:00
abstract：:Use of non-vitamin K antagonist oral anticoagulants (NOACs), including dabigatran etexilate, rivaroxaban, apixaban, edoxaban or betrixaban provides a safe and convenient alternative to the traditional anticoagulation with vitamin K antagonists or heparin derivatives. Many patients receiving long-term seizure prophylax...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2020.106304
更新日期：2020-05-01 00:00:00
abstract：:Mutations in GABRG2, which encodes the γ2 subunit of GABAA receptors, can cause both genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. Most GABRG2 truncating mutations associated with Dravet syndrome result in premature termination codons (PTCs) and are stably translated into mutant proteins wit...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.12.005
更新日期：2014-03-01 00:00:00
abstract：:We studied the electrocorticogram (ECoG) before and immediately after transcortical selective amygdalo-hippocampectomy, prospectively in 13 consecutive patients and retrospectively in three others. ECoG was performed with surface and two depth electrodes inserted through T2 aimed at the amygdala and anterior hippocamp...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90080-q
更新日期：1993-12-01 00:00:00
abstract：:Benzodiazepines (BDZs) are GABA(A) receptor modulators with anxiolytic, hypnotic, and anticonvulsant properties. BDZs are understood to potentiate GABA(A) receptor function by increasing channel opening frequency, in contrast to barbiturates, which increase channel open duration. However, the in vitro evidence demonst...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.007
更新日期：2009-08-01 00:00:00
abstract：:Photosensitive epilepsy (PSE) offers a highly reproducible model to investigate whether changes in neuronal activity preceding the transition to an epileptic photoparoxysmal response (PPR) may be detected. We investigated this possibility in patients with idiopathic PSE using MEG, as well as normal controls and non-ph...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.10.022
更新日期：2011-12-01 00:00:00
abstract：:Previous experiments suggest the primary route of valproic acid (VPA) removal from the rabbit central nervous system (CNS) is by probenecid-sensitive transporters at the blood-brain barrier but not at the choroid plexus. The purpose of this study was to determine if other transport mechanisms at the choroid plexus pla...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)00075-8
更新日期：1995-03-01 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：:Polyamine (tissue) concentrations have been studied in hippocampus and temporal neocortex from patients with temporal lobe epilepsy. Depth electrode recordings demonstrated hippocampal origin of the seizures, the temporal neocortex being involved during the discharge propagation. Neuropathological examination of excis...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90035-r
更新日期：1992-07-01 00:00:00
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...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.04.007
更新日期：2017-07-01 00:00:00
abstract：:The role of N-methyl-D-aspartate (NMDA) in the development and expression of kindled seizures was assessed using a crossover design. Rats were stimulated once daily in the perforant path for 10 consecutive days 30 min following daily administration of saline or the NMDA antagonist MK-801 (1.0 mg/kg) (phase I). Five to...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90014-0
更新日期：1994-02-01 00:00:00
abstract：PURPOSE:Antiepileptic drugs (AEDs) may have adverse effects on bone metabolism and bone mineral density (BMD). The aim of this study is to determine the changes of bone metabolism and BMD in epilepsy patients who are undergoing levetiracetam (LEV) monotherapy. METHODS:Drug-naïve, sixty-one patients with recent onset e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.09.002
更新日期：2013-03-01 00:00:00
abstract：:Post-stroke seizures occur in 5-20% of patients. Modeling of stroke-induced seizures in animals provides a useful tool for investigating the molecular basis of epileptogenesis and for developing therapies for stroke patients at increased risk for epileptogenesis. The questions addressed in the study were: (1) Do rats ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(03)00034-2
更新日期：2003-04-01 00:00:00
abstract：:Young adult and aged male Fisher 344 rats underwent kainate-induced convulsive status epilepticus (SE) for 4 h prior to sacrifice to determine potential aging-related differences in the effect of prolonged SE on the expression of hippocampal voltage-gated calcium channels (VGCCs). Immunohistochemistry was performed on...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.10.007
更新日期：2003-11-01 00:00:00
abstract：OBJECTIVE:This study was undertaken to determine whether levetiracetam (Keppra) affected the pharmacokinetic or pharmacodynamic profile of digoxin in healthy adults. METHODS:Seven men and four women (19-48 years old) completed this double-blind, placebo-controlled study. Each received digoxin 0.25 mg once daily (0.5 m...
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(01)00253-4
更新日期：2001-08-01 00:00:00
abstract：OBJECTIVE:To explore the association between patient-reported-outcomes measurements and costs in adult outpatients with drug refractory epilepsy (DRE) in Spain. METHODS:Secondary analysis of a cross-sectional study to determine resources utilization and related costs of refractory epilepsy in Spain (LINCE study). Cons...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2008.10.004
更新日期：2009-02-01 00:00:00
abstract：:The purpose of this investigation was to inquire into the multietiological determinants of psychopathology and social competence in children with epilepsy. The relationship between behavioral functioning as assessed by the Child Behavior Checklist and a variety of biological, psychosocial, medication and demographic r...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(88)90010-1
更新日期：1988-01-01 00:00:00
abstract：:Status epilepticus (SE) is a common neurological and medical emergency. Despite the significant mortality associated with SE, no human data have been available regarding cardiovascular changes prior to death in patients with this condition. This study was conducted to measure hemodynamic trends in the 24 h prior to de...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00031-x
更新日期：1998-08-01 00:00:00
