Abstract：
:Ring chromosomes are rare chromosome disorders that arise usually de novo. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. We report an epileptic case of a 10-year-old boy to be mild psychomotor retardation and dysmorphic traits including microcephaly, brachycephaly, flat occiput, large and apparently low set ears, and bilateral syndactyly between his second and third fingers with mosaic ring chromosome 6 and 6q terminal deletion. Peripheral chromosome and fluorescent in situ hybridisation (FISH) analysis of the patient showed mos46,XY,r(6)(p24;q26),del(6)(q27) [30]/46,XY,del(6)(q27) [20] de novo. We presented the patient in the light of literature because the mosaic ring 6 and 6q terminal deletion was different caryotypically from other mosaic ring 6 patients.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Kara N,Okten G,Guneş SO,Saglam Y,Tasdemir HA,Pinarli FAdoi
10.1016/j.eplepsyres.2008.03.020subject
Has Abstractpub_date
2008-08-01 00:00:00pages
219-23issue
2-3eissn
0920-1211issn
1872-6844pii
S0920-1211(08)00083-1journal_volume
80pub_type
杂志文章abstract：OBJECTIVE:To describe the use of a population pharmacokinetic (PopPK) model incorporating weight and ontogeny to identify effective clobazam (CLB) dosing for use in a clinical trial in pediatric patients with Dravet syndrome. METHODS:Pharmacokinetic data were combined from 3 CLB trials (OV-1012, OV-1017, and study 301...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106182
更新日期：2019-11-01 00:00:00
abstract：:It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. In patients, the onset of FS is likely due to the combined effect of temperature and i...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.04.020
更新日期：2017-08-01 00:00:00
abstract：:Assessing the functional reserve of key memory structures in the medial temporal lobes (MTL) of pre-surgical patients with intractable temporal lobe epilepsy (TLE) remains a challenge. Conventional functional MRI (fMRI) memory paradigms have yet to fully convince of their ability to confidently assess the risk of a po...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2013.01.004
更新日期：2013-07-01 00:00:00
abstract：:To study the risk of developing unprovoked seizures among patients with multiple sclerosis (MS) and systemic lupus erythematosus (SLE), we used 1885 new onset seizure cases, 15,080 controls and defined exposure as a hospital discharge diagnosis of MS or SLE. The odds ratio with 95% confidence interval was 3.7 (CI 1.2-...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.04.005
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:To quantitatively analyze trajectory of movement in automatisms with temporal lobe epilepsy (TLE) and frontal lobe epilepsy (FLE). METHODS:Twenty markers were attached to chosen body parts of patients, and 10 videos of seizures were recorded. The obtained videos were converted into digital matrices. Motor tr...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.09.010
更新日期：2009-02-01 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：BACKGROUND:Anticonvulsant hypersensitivity syndrome (AHS) is one of the most severe forms of drug eruption with potentially lethal, and multiorgan involvement. Recently, it has been suggested that Human Herpesvirus (HHV) infection has been involved in this syndrome, although the pathogenesis of this syndrome remains st...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.02.006
更新日期：2006-07-01 00:00:00
abstract：:Benign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy. Much evidence has been reported in literature in the l...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.03.004
更新日期：2005-05-01 00:00:00
abstract：:We report an interaction between lamotrigine (LTG), a new antiepileptic drug (AED), and carbamazepine (CBZ) and its primary metabolite CBZ-10,11-epoxide (CBZ-E) in 9 consecutive patients (5 male, 4 female, aged 19-31 years). After introduction of LTG (median daily dose 200 mg, range 100-300 mg) the mean serum CBZ-E co...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90049-y
更新日期：1992-04-01 00:00:00
abstract：BACKGROUND:Due to pharmacoresistant seizures and the underutilization of surgical treatments, a large number of temporal lobe epilepsy (TLE) patients experience seizures for years or decades. The goal of this study was to generate a predictive model of duration of disease with the least number of parameters possible in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.12.006
更新日期：2015-02-01 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：:Interpreting electrocorticography (ECoG) in the context of neuroimaging requires that multimodal information be integrated accurately. However, the implantation of ECoG electrodes can shift the brain impacting the spatial interpretation of electrode locations in the context of pre-implant imaging. We characterized the...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106410
更新日期：2020-11-01 00:00:00
abstract：PURPOSE:Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder caused by mutations of the ALDH7A1 gene. We aimed to analyze the relations between the clinical diagnosis and treatment of PDE and ALDH7A1 gene mutations in Chinese PDE patients. METHODS:The clinical manifestations, diagnosis and treatm...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.10.002
更新日期：2015-12-01 00:00:00
abstract：:Most people with epilepsy live in tropical countries. Perinatal factors seem to play a significant role in the occurrence of epilepsy. Available data provide different and sometimes contradictory conclusions on the role and the burden of these factors. The aim of our study was to evaluate the effect of these perinatal...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2018.07.004
更新日期：2018-10-01 00:00:00
abstract：SUMMARY:Metabotropic glutamate receptors (mGluR) may represent a perspective target for anticonvulsant therapy but spectrum of their anticonvulsant effects is not sufficiently known. Our study was aimed at comparison of anticonvulsant actions of antagonists of mGluR1 and mGluR5 subtypes in immature rats. Seven-, 12-, 1...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.11.004
更新日期：2009-02-01 00:00:00
abstract：:Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00049-6
更新日期：1995-11-01 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：:Pharmacoresistant mesial temporal lobe epilepsy (mTLE) represents the major indication for epilepsy surgery. Since epilepsy surgery is an elective treatment option, preserving cognition is a high priority. Given the essential role of temporomesial structures in declarative long-term memory formation, surgical treatmen...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2017.08.017
更新日期：2018-05-01 00:00:00
abstract：:Interactions of subclinical epileptiform EEG discharges and cognitive functioning were studied in 91 patients with epilepsy, under video monitoring, to exclude overt clinical ictal phenomena during the investigations. A short-term memory test was presented as an engaging television game, in two versions, using spatial...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(87)90031-3
更新日期：1987-07-01 00:00:00
abstract：:Children with refractory epilepsy who are co-treated with the ketogenic diet (KD) and carbonic anhydrase inhibitor (CA-I) anti-epileptic medications including topiramate (TPM) and zonisamide (ZNS) are at risk for urolithiasis. Retrospective chart review of all children treated with ketogenic therapy at our institution...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.04.005
更新日期：2010-06-01 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 mechanisms of paradoxical aggravation of epileptic seizures induced by selected antiepileptic drugs (AEDs) remain unclear. The present study addressed this issue by determining the seizure-threshold doses of carbamazepine (CBZ) and phenytoin (PHT), as well the dose-dependent effects of CBZ, PHT, and carbonic anhyd...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.01.015
更新日期：2009-04-01 00:00:00
abstract：:Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering ge...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.02.011
更新日期：2015-05-01 00:00:00
abstract：PURPOSE:We studied the effect of fosphenytoin (FOS) pre-medication on the incidence and thresholds of after-discharges (ADs), seizures, and functional responses during electrical stimulation mapping (ESM). METHODS:As individualized by the attending epileptologist, FOS was given intravenously at 2 mg-phenytoin-equivale...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.01.017
更新日期：2018-02-01 00:00:00
abstract：PURPOSE:Hippocampal sclerosis (HS) is the most common pathology in mesial temporal lobe epilepsy (MTLE). There are a few reports concerning prognosis in patients with MTLE-HS treated medically. The study was carried out to determine the clinical risk factors affecting prognosis. METHODS:We enrolled 287 patients with M...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.001
更新日期：2009-08-01 00:00:00
abstract：:We analyzed 91 psychomotor seizures from 31 patients seizure free at least one year after temporal lobectomy (implying temporal lobe onset). Fifty symptoms were looked for in every seizure and their time of onset and ending noted. Statistical analysis was used to define symptom clusters and the order of appearance of ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)00055-2
更新日期：1995-01-01 00:00:00
abstract：:We herein investigated risk factors of pediatric acute encephalopathy (AE) regarding the hitherto uncharacterized genetic background of seizure susceptibility underlying the pathogenesis of AE. The study included 15 patients with a history of various types of AE in childhood. We undertook the mutational analysis of th...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.07.005
更新日期：2010-10-01 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：OBJECTIVES:Cryosurgery is an alternative technique for minimally invasive treatment of lesions. We have recently examined cryosurgery for epilepsy in animal models, and found that penicillin G (PG)-induced epileptiform discharges (EDs) mostly vanished after freezing. However, EDs were provoked again after insufficient ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.03.021
更新日期：2018-07-01 00:00:00
abstract：:The actions of adenosine in modulating amygdala kindling were examined using the stable adenosine analog 5'-N'-ethylcarboxamidoadenosine (NECA) and caffeine, an adenosine antagonist. Systemically administered NECA was found to significantly reduce the rate of postictal spiking and to significantly increase the duratio...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90070-c
更新日期：1990-08-01 00:00:00
