Abstract：
:Focal epilepsy (FE) is one of the most common forms of adult epilepsy and is usually regarded as a multifactorial disorder. Febrile seizures (FS) often appear during childhood in a subtype of FE patients, i.e. with temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS). FS are the most common human convulsive event associated with fever. Genetic evidences for FS have suggested a complex mode of inheritance. Until now, to investigate genes at the genomic level, linkage analysis of familial forms and association studies have been performed, but nothing conclusive has been clearly related to FE and FS. As complex disorders, environmental factors might play a crucial role through epigenetic modification of key candidate genes such as CPA6, which encodes Carboxypeptidase A6, an extracellular protein. Therefore, we assessed DNA methylation in promoter of CPA6. In 186 FE patients and 92 FS patients compared to 93 healthy controls and 42 treated controls with antiepileptic drugs (AEDs), we found significant higher levels of methylation for epileptic patients. Methylation status were 3.4% (±3.2%) for FE cases and 4.3% (±3.5%) for FS cases, whereas healthy individuals and treated controls with AEDs showed a level of 0.8% (±2.9%) and 1.5% (±3.9%), respectively (p≤0.001 for all comparisons). These results let growing evidence for DNA methylation involvment in FE and FS.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Belhedi N,Perroud N,Karege F,Vessaz M,Malafosse A,Salzmann Adoi
10.1016/j.eplepsyres.2013.10.007subject
Has Abstractpub_date
2014-01-01 00:00:00pages
144-8issue
1eissn
0920-1211issn
1872-6844pii
S0920-1211(13)00261-1journal_volume
108pub_type
杂志文章,多中心研究abstract：PURPOSE:We sought to systematically review and perform a meta-analysis of the magnetic resonance spectroscopy (MRS) findings regarding juvenile myoclonic epilepsy (JME). METHODS:We searched for studies in the PubMed, Web of Science, and Embase electronic databases. Two authors collected articles and extracted data ind...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2016.01.004
更新日期：2016-03-01 00:00:00
abstract：:CYP2C9 is mainly responsible for the metabolic clearance of phenytoin and (S)-warfarin. We have shown previously that mutations in the CYP2C9 gene are associated with diminished metabolism of (S)-warfarin, and so we have now studied the metabolism of phenytoin to its primary inactive metabolite, (S)-pHPPH, by these mu...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00017-0
更新日期：1999-07-01 00:00:00
abstract：:Early neuropsychological changes following partial anterior callosotomy were evaluated in 15 patients with epilepsy (10 secondary generalized and 5 Lennox-Gastaut syndromes) by comparing their performances 1 month before surgery and then 15-20 and 90-100 days postoperatively without modifying the anticonvulsant treatm...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90091-9
更新日期：1990-07-01 00:00:00
abstract：OBJECTIVES:This study aimed to test the hypothesis that high-dose prednisolone (4 mg/kg/day) may be more efficacious than usual-dose (2 mg/kg/day) prednisolone for spasm resolution at 14-days in children with infantile spasms. METHODS:This was a randomized, open-label-trial conducted at a tertiary-level-hospital from ...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2014.06.019
更新日期：2014-10-01 00:00:00
abstract：:Resting motor threshold (rMT) assessed by means of Transcranial Magnetic Stimulation (TMS) is thought to reflect trans-synaptic excitability of cortico-spinal neurons. TMS studies reporting rMT in idiopathic generalized epilepsies (IGEs) yielded discrepant results, so that it is difficult to draw a definitive conclusi...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2012.03.020
更新日期：2012-08-01 00:00:00
abstract：PURPOSE:We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations. METHOD:A retrospective, descriptive, multicenter study was conducted evaluating...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106507
更新日期：2021-01-01 00:00:00
abstract：:This paper evaluates the patient-specific seizure prediction performance of pre-ictal changes in bivariate-synchrony between pairs of intracranial electroencephalographic (iEEG) signals within 15min of a seizure in patients with pharmacoresistant focal epilepsy. Prediction horizons under 15min reduce the durations of ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.07.014
更新日期：2010-10-01 00:00:00
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：: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：: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：BACKGROUND:High frequency oscillations (HFOs) have provided a new insight in understanding ictogenesis and seizure localization. In absence seizures, HFOs were predominantly localized in the medial prefrontal cortex (MPFC) in MEG studies. METHODS:We studied HFOs (80-250 Hz) in scalp EEGs in patients with absence epile...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.06.008
更新日期：2015-09-01 00:00:00
abstract：BACKGROUND:Many new antiepileptic drugs (AEDs) have become available in recent years. Investigations of prescription patterns and exposure of AEDs to different patient groups are important regarding drug safety aspects. The aim of this study was to investigate the use of AEDs in epilepsy, with focus on exposure of AEDs...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.02.012
更新日期：2011-06-01 00:00:00
abstract：:Prevention of epileptogenesis after brain insults, such as status epilepticus (SE), head trauma, or stroke, remains a challenge. Even if epilepsy cannot be prevented, it would be beneficial if the pathologic process could be modified to result in a less severe disease. We examined whether early discontinuation of SE r...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.10.003
更新日期：2005-01-01 00:00:00
abstract：PURPOSE:Epilepsy is associated with an increased mortality. This study estimates the effects of co-morbid disorders on short-term and long-term mortality and presents cause-specific mortality for children and young adults with epilepsy. METHODS:We established a population-based cohort of 1,855,946 children born in Den...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.05.001
更新日期：2015-08-01 00:00:00
abstract：:In rats, electrographic seizure activity was recorded from both the inferior collicular cortex and the deep prepiriform after i.p. administration of 15 mumol/kg bicuculline, a dose which produced a variety of seizure behaviors. electrographic spikes recorded from the deep prepiriform cortex coincided with myoclonic je...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(91)90032-b
更新日期：1991-01-01 00:00:00
abstract：SUMMARY:Stereotactic radiofrequency amygdalohippocampectomy (AHE) has been reintroduced as an alternative treatment of mesial temporal lobe epilepsy. The aim of this study was to describe MRI changes after stereotactic AHE and to correlate the hippocampal and amygdalar volumes reduction with the clinical seizure outcom...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/j.eplepsyres.2008.11.013
更新日期：2009-02-01 00:00:00
abstract：:The Fourth Eilat Conference on New Antiepileptic Drugs (AEDs) was held at the Royal Beach Hotel, Eilat, Israel, from 6th to 10th September 1998. Epileptologists and scientists from 20 countries attended the conference, which was held to discuss a number of issues in drug development, including outcome assessment in ep...
journal_title：Epilepsy research
pub_type：
doi：10.1016/s0920-1211(98)00108-9
更新日期：1999-03-01 00:00:00
abstract：PURPOSE:Valproate (VPA) administration may be associated with adverse metabolic effects, among is hyperammonemia, which could suggest metabolic abnormalities as carnitine deficiency. This study aimed to evaluate the risk frequency of hyperammonemia and abnormal carnitine levels in children receiving VPA who were otherw...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/j.eplepsyres.2009.04.002
更新日期：2009-09-01 00:00:00
abstract：:Interictal blood flow single photon emission computed tomography (SPECT) has been considered to be of limited value in the investigation of patients with partial epilepsies. Newer SPECT technologies using brain dedicated multiple detector systems have not been fully evaluated. To study the usefulness of an optimized S...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00020-b
更新日期：1995-06-01 00:00:00
abstract：:The effect of magnesium-free medium on electrical and CaM kinase II activity in the rat hippocampal slice was examined. Experimental slices were incubated in 2 mM Mg, then exposed to magnesium-free medium for 1 h. Control slices were concurrently run in 2 mM Mg. Slices were then frozen and CaM kinase II activity was m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(91)90054-j
更新日期：1991-09-01 00:00:00
abstract：:Recently, mutations of KCNQ2 or KCNQ3, members of the KCNQ-related K(+)-channel (KCNQ-channel) family, were identified as cause of benign familial neonatal convulsions (BFNC). However, the exact pathogenic mechanisms of age-dependent development and spontaneous remission of BFNC remain to be elucidated. To clarify the...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00249-8
更新日期：2003-02-01 00:00:00
abstract：PURPOSE:To evaluate the influence of aging on the pharmacokinetics of valproic acid (VPA) at steady-state and on the susceptibility of VPA metabolism to enzyme induction by antiepileptic comedication. METHODS:The database of the therapeutic drug monitoring service of a large neurological hospital was searched to ident...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.04.002
更新日期：2006-08-01 00:00:00
abstract：BACKGROUND:Large administrative databases may prove useful to assess epilepsy-related comorbidity and mortality. Despite their increased use, their validity as data source in epilepsy is yet under-ascertained. METHODS:Achmea is a large Dutch health insurance company covering about 25% of the population. We performed a...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.11.019
更新日期：2018-01-01 00:00:00
abstract：BACKGROUND:Idiopathic epilepsy (IE) is a syndrome that comprises epilepsy only, with no underlying structural brain lesion or other neurological signs or symptoms. Numerous studies have shown that genetic factors play an important role in IE. IE is a common disease in the Chinese Han population. However, the genetic ep...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.09.013
更新日期：2012-02-01 00:00:00
abstract：:Posttraumatic epilepsy is a common consequence of traumatic brain injury in humans. Major predictors for the development of posttraumatic epilepsy include the severity of injury and occurrence of cortical contusions. The effect of the size or location of the cortical lesion on the risk of epileptogenesis, however, is ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.03.007
更新日期：2010-06-01 00:00:00
abstract：:Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual wit...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106181
更新日期：2019-10-01 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：:Dogs were treated with clorazepate, which is known to be completely metabolized to desmethyldiazepam. 2 mg/kg t.i.d. were given orally for 5-6 weeks, a dose regimen providing plasma concentrations of desmethyldiazepam in the range known to be therapeutic in man. The rate of development of tolerance to the anticonvulsa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90042-9
更新日期：1989-03-01 00:00:00
abstract：BACKGROUND:Epilepsy is among the more stigmatising diseases, leading to a negative impact on the quality of life (QoL) of people with epilepsy (PWE). Assessment of the QoL and stigma in PWE reflects the outcome of their disease, and the findings can be used to improve the management of epilepsy. To fill a gap in the li...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106437
更新日期：2020-11-01 00:00:00
abstract：BACKGROUND:Treatment of paediatric epilepsy has advanced with the development of new antiepileptic drugs (AEDs). There are few data for Germany to which extent new AEDs are used in the treatment of childhood epilepsy. AIMS:To characterise utilisation of antiepileptics in children and adolescents with a specific emphas...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.06.008
更新日期：2013-01-01 00:00:00
