Abstract：
SUMMARY:Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2). The more common cases of sporadic nocturnal frontal lobe epilepsy (NFLE) that are not differentiated from ADNFLE by phenotype have been found to be associated with the mutation of CHRNA4 reported in ADNFLE. In order to assess the genetic defects in NFLE, we performed a mutation screening in 33 unrelated patients with sporadic NFLE by amplifying and sequencing bidirectionally TM 1-3 of CHRNA4, CHRNB2 and CHRNA2 which contain the mutations reported in ADNFLE. In screening CHRNA4, we identified a novel mutation in one patient that causes a alpha4-R308H amino acid exchange outside the TM, and in the second intracellular loop between the third and fourth transmembrane domains. The mutation was not observed in 400 control chromosomes. No mutations were present in parts of CHRNB2 and CHRNA2.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Chen Y,Wu L,Fang Y,He Z,Peng B,Shen Y,Xu Qdoi
10.1016/j.eplepsyres.2008.10.009subject
Has Abstractpub_date
2009-02-01 00:00:00pages
152-6issue
2-3eissn
0920-1211issn
1872-6844pii
S0920-1211(08)00312-4journal_volume
83pub_type
杂志文章abstract：:Here we describe a new non-human primate model of temporal lobe epilepsy (TLE) to better investigate the cause/effect relationships of human TLE. Status epilepticus (SE) was induced in adult marmosets by pilocarpine injection (250mg/kg; i.p.). The animals were divided in 2 groups: acute (8h post-SE) and chronic (3 and...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.04.015
更新日期：2011-09-01 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：: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：: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：:The potential clinical efficacy of tiagabine for control of status epilepticus was evaluated in an experimental model. Tiagabine was administered to cobalt-lesioned rats in which status epilepticus was induced by injection of homocysteine thiolactone. Tiagabine was effective in controlling status epilepticus in this m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90067-1
更新日期：1994-12-01 00:00:00
abstract：:The ketogenic diet (KD) remains a therapy in search of explanation although it is an established treatment of intractable epilepsy. Recent studies suggest that the KD may be both anticonvulsant and antiepileptogenic. Epileptic seizures have been shown to stimulate the proliferation rate of neuronal progenitor cells in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.11.010
更新日期：2008-02-01 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：:Depression is a frequent psychiatric symptom in epilepsy and has been related to epilepsy of temporal origin, especially of left-sided foci. No study differentiated the precise localization of the epileptogenic lesion within the temporal lobe. Regarding this issue, we evaluated depression assessed by the Beck Depressi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00117-5
更新日期：2000-04-01 00:00:00
abstract：:Glutamatergic ionotropic and metabotropic receptor modulators have been shown to produce anticonvulsant activity in a number of animal seizure models, e.g. maximal electroshock (MES) and DBA/2 sensory-induced seizures. The 6 Hz model of partial seizures is an alternative low frequency, long duration stimulation paradi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.08.001
更新日期：2003-09-01 00:00:00
abstract：:Severe paediatric epilepsies such as CDKL5 Deficiency Disorder (CDD) are extremely debilitating, largely due to the early-onset and refractory nature of the seizures. Existing treatment options are often ineffective and associated with a host of adverse effects, causing those that are affected to seek alternative trea...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2019.02.001
更新日期：2019-03-01 00:00:00
abstract：:We describe the clinical and radiological features of a family with a homozygous mutation in TBC1D24. The phenotype comprised onset of focal seizures at 2 months with prominent eye-blinking, facial and limb jerking with an oral sensory aura. These were controllable with medication but persisted into adult life. Associ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.02.005
更新日期：2013-07-01 00:00:00
abstract：:The ideal proof-of-principle study design provides a strong efficacy signal over the shortest duration, while exposing the fewest patients possible. Data from a large database (Pfizer Inc) which studied add-on pregabalin for the treatment of partial seizures was used to model how duration of baseline, post-randomizati...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2013.04.008
更新日期：2013-09-01 00:00:00
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：OBJECTIVE:This was the first proof of principle clinical trial assessing the efficacy and safety of rufinamide as adjunctive therapy in epileptic patients. The pharmacokinetic (PK) profile of rufinamide was also determined. METHODS:Fifty patients with diagnoses of partial or primary generalized tonic-clonic seizures w...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1016/s0920-1211(00)00185-6
更新日期：2001-02-01 00:00:00
abstract：:We have surveyed the rates at which clinicians in the U.K. and Eire withdraw antiepileptic drugs (AEDs) in patients with active epilepsy. Practice differed widely and there was a lack of consensus regarding the rates employed. Inpatient reductions were 2-4 times faster than outpatient reductions. AED reductions tended...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(87)90060-x
更新日期：1987-11-01 00:00:00
abstract：:Treating a patient with antiepileptic drugs (AEDs) may give rise to unexpected life-threatening adverse events. Despite extensive experimental and clinical testing to ensure safety, most AEDs on the market have been associated with cases of severe cutaneous reactions, serious hematological disorders, or hepatic failur...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(01)00306-0
更新日期：2001-11-01 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：PURPOSE:Cryptogenic focal epilepsy (CFE) is a heterogeneous clinical disorder including patients with severe refractory forms and patients with a fairly good prognosis. Predictors of prognosis in CFE are poorly understood. The aim of this retrospective study is to identify long-term (5-year) prognostic predictors in pa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.07.004
更新日期：2013-11-01 00:00:00
abstract：PURPOSE:To assess subjective seizure anticipation in patients with focal and generalized epilepsy. METHODS:Five hundred consecutively recruited out-patients (251 male, 249 female, mean age 38.1 year) from three German tertiary epilepsy referral centres filled out questionnaires regarding subjective anticipation of sei...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2006.02.001
更新日期：2006-07-01 00:00:00
abstract：:The present study used Nissl stains and glutamate decarboxylase immunoreactivity (GAD-IR) to quantify the acute and chronic toxicity of kainic acid (KA) on focal and remote hippocampal principal neurons (i.e., pyramidal and granule cells) and on putative inhibitory neurons (GAD-IR or GABAergic) following intrahippocam...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90063-2
更新日期：1990-01-01 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：: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：:Previous investigations in seizure-prone mice have suggested that an abnormally elevated production of the astrocyte-derived neuroexcitant, quinolinic acid (QUIN), plays a role in seizure susceptibility. In order to evaluate further the role of QUIN metabolism in genetic murine seizure models, the activities of its bi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)90039-6
更新日期：1994-07-01 00:00:00
abstract：PURPOSE:The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics and the inheritance pattern. METHOD:We included a total of 25 famili...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106450
更新日期：2020-11-01 00:00:00
abstract：OBJECTIVE:To clarify the clinical and neurophysiological profiles of fronto-parietal opercular epilepsy in which epileptic spikes are detected with magnetoencephalography (MEG) but not with scalp electroencephalography (EEG). METHODS:Four patients presented with epileptic spikes localized to the fronto-parietal opercu...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.05.003
更新日期：2012-11-01 00:00:00
abstract：BACKGROUND:Since intracranial electrode implantation has limited spatial sampling and carries significant risk, placement has to be effective and efficient. Structural and functional imaging of several different modalities contributes to localising the seizure onset zone (SoZ) and eloquent cortex. There is a need to su...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.08.002
更新日期：2013-11-01 00:00:00
abstract：PURPOSE:To characterize gabapentin pharmacokinetics in infants and children using a population approach and to identify important demographic and/or physiologic determinants of gabapentin disposition. METHODS:Gabapentin was administered in single doses of 10 mg/kg (N=48 healthy subjects, age 1 month-12 years) or in mu...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(01)00311-4
更新日期：2001-12-01 00:00:00
abstract：:To help identify patients at greatest risk for sudden unexpected death in epilepsy (SUDEP), screening inventories like the SUDEP-7 Inventory can be useful. In this study, we examined the strength of association between this inventory's risk factors and postictal generalized EEG suppression (PGES), a biomarker of SUDEP...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.09.006
更新日期：2015-11-01 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：:Mutations in genes encoding ion channels in brain neurons have been identified in various epilepsy syndromes. In neuronal networks, "gain-of-function" of channels in excitatory neurotransmission could lead to hyper-excitation while "loss-of-function" in inhibitory transmission impairs neuronal inhibitory system, both ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.12.007
更新日期：2006-08-01 00:00:00
