Abstract：
:To further elucidate the inheritance pattern and range of phenotypic manifestations of benign familial temporal lobe epilepsy (FTLE), we report a large family recently identified in southern Italy. There were 8 patients (4 men), ranging in age from 31 to 68 years in three generations. One affected patient was deceased at the time of the study. Genealogical study strongly supported autosomal dominant inheritance with incomplete penetrance, as three unaffected individuals transmitted the disease. Clinical anticipation could not be assessed because of the ascertainment method. Male to male transmission occurred. Identifiable antecedents for seizures were present in only two patients, who had a simple febrile convulsion and a closed head trauma, respectively. Migraine was overrepresented in this family. Onset of seizures ranged from 17 to 52 years (mean: 27 years). All patients had weekly simple partial seizures suggestive of temporal origin with vegetative or experiential phenomena. Very rare partial complex seizures occurred in 6/7 patients. One had two generalized nocturnal seizures as well. Two had previously been misdiagnosed as having gastritis or panic attacks, and one had not been diagnosed. Interictal anteromesiotemporal spiking was seen in 5/7 patients, and occurred mostly during NREM sleep. Neurological examination, brain CT or MR scans were normal. Antiepileptic medication always controlled the seizures.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Gambardella A,Messina D,Le Piane E,Oliveri RL,Annesi G,Zappia M,Andermann E,Quattrone A,Aguglia Udoi
10.1016/s0920-1211(99)00080-7subject
Has Abstractpub_date
2000-02-01 00:00:00pages
127-32issue
2-3eissn
0920-1211issn
1872-6844pii
S0920-1211(99)00080-7journal_volume
38pub_type
杂志文章abstract：:Binding of valproate and palmitate to serum albumin was studied in 29 valproate-treated epileptic patients. The results were compared with similar observations in a reference group of 43 non valproate-treated individuals. The binding affinity for palmitate was decreased (P < 0.0001) resulting in increased availability...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90040-e
更新日期：1993-09-01 00:00:00
abstract：INTRODUCTION:The aim of this study was to determine the histological effects of valproic acid (VPA) on the penis in prepubertal rats. METHODS:Twelve male Wistar rats (21-24 days old) were divided equally into 2 experimental groups, and given tap water (control group) or 300mg/kg/day VPA via gavage for 30 days. After t...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.12.010
更新日期：2012-05-01 00:00:00
abstract：BACKGROUND:Valproate is used widely for the treatment of epilepsy but has been associated with hyperandrogenism, hyperinsulinemia, and dyslipidemia. The mechanism for these associations is unknown, but they have been hypothesized to be secondary to valproate-associated weight gain. This study was conducted to test the ...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/s0920-1211(03)00085-8
更新日期：2003-05-01 00:00:00
abstract：:The monoamine content in cerebral structures has been related to neuronal excitability and several approaches have been used to study this phenomenon during seizure vulnerability. In the present work, we have described the effects of serotonin (5-HT) depletion after the administration of 5,7-dihydroxytryptamine (5,7-D...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.08.010
更新日期：2008-12-01 00:00:00
abstract：:Interruption of neurogenesis and/or neuronal migration produces brain dysplasia modifying susceptibility to epileptic seizures in adulthood. The course of neurogenesis has a strictly defined time-table. Consequently, the developmental stage at which the interruption occurs determines what functional subsystem potentia...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.09.006
更新日期：2005-12-01 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：:Neuromodulation therapies represent an important treatment arm for patients with drug-resistant epilepsy (DRE) who are not candidates for resective surgery. Vagus nerve stimulation (VNS) - the neurostimulation modality in focus in this review - was the first available neuromodulatory therapy for DRE and was followed b...
journal_title：Epilepsy research
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.eplepsyres.2019.02.004
更新日期：2019-07-01 00:00:00
abstract：:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a newly defined clinicoradiologic syndrome characterized by biphasic seizures and altered consciousness followed by restricted diffusion in the white matter on magnetic resonance imaging in acute phase. Intractable epilepsy commonly occur...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.04.006
更新日期：2018-07-01 00:00:00
abstract：:Special issues are related to AED testing in several populations. Pharmacokinetics, pharmacodynamics and underlying neurochemistry and developing systems require specific testing in appropriate infants with refractory seizures. EEG monitoring is an essential part of seizure definition and recognition, making it a nece...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.09.017
更新日期：2006-01-01 00:00:00
abstract：:Tiagabine is a novel antiepileptic drug which has clinical efficacy against complex refractory and myoclonic seizures. The anticonvulsant mechanism of action of tiagabine results from its blockade of neuronal and glial GABA-uptake, thereby increasing GABA levels in the synaptic cleft. Here we present a comparison of t...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00031-4
更新日期：1997-07-01 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：:Surgical treatment of mesial temporal lobe epilepsy (mTLE) patients involves the removal either of the left or the right hippocampus. Since the mesial temporal lobe is responsible for emotion recognition abilities, we aimed to assess facial emotion recognition (FER) in two homogeneous patient cohorts that differed onl...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2015.01.002
更新日期：2015-03-01 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：:To assess the efficacy of CM40907--a new antiepileptic drug--in suppressing inter-ictal spikes, 6 patients with severe intractable epilepsy and frequent spikes in their inter-ictal EEGs were entered in a double-blind placebo-controlled trial. The results show that CM40907 is efficacious in reducing spike counts in the...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/0920-1211(90)90046-x
更新日期：1990-04-01 00:00:00
abstract：:The ketogenic diet (KD) increased the expression of calbindin-D(28k) (CB) in the interneurons of the hippocampus compared with the normal diet (ND)-fed mice. Also, 2 days after kainic acid (KA) administration, numerous CB-expressing astrocytes were found in the KD-fed mice compared with those of the ND-fed mice. These...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.05.008
更新日期：2005-07-01 00:00:00
abstract：:The present study examined whether the perceived behavioral problems of children with idiopathic epilepsy differed from those of healthy controls according to parent proxy-reports and which factors are associated with these problems. The parents of 106 children with idiopathic epilepsy and 305 healthy controls aged 6-...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2012.01.014
更新日期：2012-06-01 00:00:00
abstract：:The objective of the study was to validate the Chinese version of The Liverpool Adverse Events Profile (LAEP) in patients with epilepsy. The scale was translated from the English version into a Chinese version and was then back-translated to examine its accuracy. Content validity, concurrent validity, and construct va...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.01.008
更新日期：2011-03-01 00:00:00
abstract：:Basal and high potassium-stimulated release of endogenous amino acids was measured using brain dialysis in the hippocampus of urethane-anesthetized seizure-resistant (SR) and seizure-susceptible (SS) rats. Moreover, the tissue level of amino acids was determined in the hippocampus, sensorimotor cortex, cerebellum and ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90040-5
更新日期：1989-03-01 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 AMPA/KA receptor antagonist 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX) and the NMDA receptor antagonist 2-amino-5-phosphonovalerate (D-APV) were used to investigate the contribution of excitatory amino acid (EAA) receptors to graded bursting activity recorded in the CA1 region of the rat hippocampal slice followi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90039-v
更新日期：1992-07-01 00:00:00
abstract：:In a selected group of temporal lobe epilepsy patients with seizures refractory to pharmacological treatment, pharmacological seizure control can be attained by surgical resection of the epileptic zone. We investigated to what extent pharmaco-resistance is reflected in a reduced response at the cellular level, in neur...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00061-8
更新日期：1998-09-01 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：:The genetically epilepsy-prone rat (GEPR) has become an important model to study genetic predisposition to epilepsy involving not only the brainstem but also forebrain structures. Previous work in CA1 hippocampal cells showed a reduction in spike frequency adaptation and only subtle changes in slow afterhyperpolarizat...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00040-2
更新日期：1995-10-01 00:00:00
abstract：:Studying infantile spasms is challenging because there are so many aspects of variation that introduce potential bias. These might relate to the many underlying etiologies, and variations in clinical semiology and electroencephalographic features that relate more to age or timing of investigation than to the underlyin...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2006.01.017
更新日期：2006-08-01 00:00:00
abstract：:Controversy exists as to whether hippocampal sclerosis (HS) is a preexisting cause or a consequence of seizures. We investigated 122 consecutive patients who underwent anterior temporal lobectomy for intractable epilepsy between 1989 and 1992. MRI scans were normal apart from evidence of HS in 5 cases. The degree of H...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/0920-1211(96)00008-3
更新日期：1996-06-01 00:00:00
abstract：OBJECTIVE:The purpose of this study was to investigate regional homogeneity (ReHo) in children with new-onset drug-naïve Benign Epilepsy with Centrotemporal Spikes (BECTS), chronic BECTS and healthy controls (HC) using the Regional Homogeneity (ReHo) method applied to resting state fMRI data. METHODS:Resting state fMR...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.06.017
更新日期：2015-10-01 00:00:00
abstract：:Application of 4-aminopyridine (4-AP, 100μM) in a solution containing 0.6mM Mg(2+) and 1.2mM Ca(2+) to hippocampal-entorhinal-perirhinal slices of adult rat brain induced ictal-like epileptiform activity in entorhinal and perirhinal cortices as revealed by electrophysiological field potential recordings. The ictal-lik...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.01.017
更新日期：2011-05-01 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：:Overexpression of multidrug efflux transporters such as P-glycoprotein (Pgp; ABCB1) or multidrug resistance proteins (MRPs; ABCC) in the blood-brain barrier has recently been suggested to explain, at least in part, pharmacoresistance in epilepsy, which affects about 30% of all patients with this common brain disorder....
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.12.007
更新日期：2004-02-01 00:00:00
abstract：:This study aimed to assess neuropsychiatric comorbidities and analyze risk factors in Chinese children with epilepsy. Children with epilepsy aged between 6 and 16 years from the Children's Hospital of Fudan University were included. Children with asthma and typically developing children were matched for age and gender...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.11.011
更新日期：2018-02-01 00:00:00
