Abstract：
:Benign myoclonic epilepsy in infancy is a rare syndrome with just over 100 cases reported since the first syndromic description by Dravet and Bureau [Dravet, C., Bureau, M., 1981. The benign myoclonic epilepsy of infancy. Rev. Elecroencephalogr. Neurophysiol. Clin. 11, 438-444]. This includes 23 infants with reflex myoclonic epilepsy whose inclusion in the wider syndrome remains debatable. We have reviewed the literature and present data from six further cases. Prognosis in respect of long term seizure freedom is good with sodium valproate being the most effective medication. However, the cognitive outcome is much less certain with cognitive problems present in one-third of children who have long term follow up. The cognitive outcome in reflex myoclonic epilepsy of infancy is normal in all reported cases. The term benign may be appropriately used to describe the myoclonic seizures but must be used cautiously when counselling families about cognitive outcome. The clinical heterogeneity within this syndrome suggests that there may be a variety of genetic mechanisms that underlie the presentation. Clinicians should distinguish the syndrome of reflex myoclonic epilepsy in infancy from benign myoclonic epilepsy of infancy and all patients should continue developmental follow up for several years after diagnosis.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Zuberi SM,O'Regan MEdoi
10.1016/j.eplepsyres.2006.01.014subject
Has Abstractpub_date
2006-08-01 00:00:00pages
S110-5eissn
0920-1211issn
1872-6844pii
S0920-1211(06)00178-1journal_volume
70 Suppl 1pub_type
杂志文章,评审abstract：:Mutations of the neuronal voltage-gated sodium channel alpha subunit type II (SCN2A) cause various epileptic syndromes, but have never been reported in association with acute encephalopathy. To validate the involvement of SCN2A mutations in acute encephalopathy, we screened 25 patients and found a novel missense mutat...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.04.016
更新日期：2012-11-01 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：PURPOSE:To use proton Magnetic Resonance Spectroscopy (MRS) to measure in vivo temporal lobe GABA and glutamate plus glutamine (GLX) concentrations in patients with temporal lobe epilepsy (TLE) attributable to unilateral hippocampal sclerosis (HS) before and following anterior temporal lobe resection (ATLR). METHODS:W...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.11.006
更新日期：2009-02-01 00:00:00
abstract：:The ketogenic diet has been used to treat intractable epilepsy for many years, yet the mechanism(s) underlying its effectiveness have not been completely elucidated. However, emerging evidence indicates that the ketogenic diet may correct or otherwise alter a 'dystopic' gut microbiota that exhibits altered fecal micro...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2020.106409
更新日期：2020-10-01 00:00:00
abstract：INTRODUCTION:Proton magnetic resonance spectroscopy ((1)H MRS) has been proposed as a lateralizing method for the presurgical evaluation of patients with medically intractable temporal lobe epilepsy (TLE). Studies have shown correlations between temporal lobe (TL) NAA and seizure frequency, and TL NAA/Cr and the durati...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.06.010
更新日期：2004-12-01 00:00:00
abstract：:Dietary supplements, herbal medicines, and other foods may affect the pharmacokinetics and/or pharmacodynamics of carbamazepine (CBZ), which may possibly lead to potential drug-drug/herb-drug interactions, as CBZ has a narrow therapeutic window. Sinapic acid (SA) is a bioactive phytoconstituent used as a dietary suppl...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.03.012
更新日期：2019-07-01 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：:Apolipoprotein E (ApoE) has been implicated as one of the susceptibility genes for temporal lobe epilepsy (TLE). Previous studies indicate that ApoE ɛ4 is associated with several disease-related traits including the increased risk of late posttraumatic seizures, earlier onset of TLE, refractory complex partial seizure...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.07.020
更新日期：2010-10-01 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：PURPOSE:The aim of the present study is to verify whether patients with partial epilepsy receiving levetiracetam (LEV) as an add-on treatment show an improvement in cognitive function. METHODS:A neuropsychological battery of tests was administered to 35 patients with partial epilepsy before the assumption of LEV and a...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2005.10.006
更新日期：2006-03-01 00:00:00
abstract：PURPOSE:Intracranial EEG in patients with lesional lateral temporal lobe epilepsy is rarely reported. Therefore, the number of patients with seizures arising independently from ipsilateral mesial structures or contralateral hemisphere has not been clarified. We analyzed the intracranial EEG of cases with localized lesi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.10.009
更新日期：2008-01-01 00:00:00
abstract：:A strain of Wistar rats, genetic absence epilepsy rats from Strasbourg (GAERS), was selected and inbred over 40 generations for occurrence of spontaneous spike-wave discharges characteristic of absence seizures, simultaneously with a strain of non-epileptic rats (NER). GAERS demonstrate an excessive sensitivity to ant...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(01)00292-3
更新日期：2001-11-01 00:00:00
abstract：:A combination of temporo-limbic hyperperfusion and extratemporal hypoperfusion was observed during complex partial seizures (CPS) in temporal lobe epilepsy (TLE). To investigate the clinical correlate of perfusion changes in TLE, we analyzed focal seizures of increasing severity using voxel-based analysis of ictal SPE...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.020
更新日期：2009-08-01 00:00:00
abstract：:Audiogenic seizures in genetically susceptible rodents are provoked by intense acoustic stimulations which result in a tonic seizure associated with a short flattening of the EEG. These seizures have been shown to involve primarily brainstem structures. Daily exposure to sound for 30-40 days produced a permanent chang...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90094-a
更新日期：1992-05-01 00:00:00
abstract：:Children with epilepsy face significant cognitive and behavioral impairments. These impairments are due to a poorly characterized interaction between the underlying etiology, the effect of seizures and the effect of medication. The large variation in these factors make understanding the main drivers of cognitive impai...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.11.005
更新日期：2015-02-01 00:00:00
abstract：PURPOSE:To compare and validate the gradient magnetic-field topography (GMFT) method of current source localization for understanding epileptic zones against equivalent current dipole (ECD) and intracranial video-EEG (IVEEG) data in patients with intractable neocortical epilepsy. METHODS:We used retrospective data fro...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.04.002
更新日期：2010-06-01 00:00:00
abstract：:The purpose of this study is to propose and investigate a new approach for discriminating between focal and non-focal hemispheres in intractable temporal lobe epilepsy, based on applying multivariate time series analysis to the discharge-free background brain activity observed in nocturnal electrocorticogram (ECoG) ti...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.06.003
更新日期：2004-09-01 00:00:00
abstract：:Six anticonvulsant drugs, phenytoin (PHT), carbamazepine (CBZ), valproate (VPA), U-54494A, losigamone (LOS), and D-20443, were studied using rat hippocampal slices and standard electrophysiological techniques. The K+ channel blocker, 4-aminopyridine (4-AP), was used as neuronal stimulant. The extracellular parameters ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(94)00077-a
更新日期：1995-02-01 00:00:00
abstract：:Two hundred and thirty-five patients suffering from newly diagnosed epilepsy were randomly allocated to treatment with either oxcarbazepine or carbamazepine in a double-blind multi-centre study. After a titration phase (between 4 and 8 weeks), the optimal individual dose of trial medication was determined and treatmen...
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(89)90070-3
更新日期：1989-01-01 00:00:00
abstract：OBJECTIVE:To study the different epilepsy syndromes that included epileptic spasms (ES) in clusters without hypsarrhythmia (WoH). METHODS:Between 2/1990 and 7/2013, we registered 48 patients with the electroclinical diagnostic criteria of ES in clusters WoH. RESULTS:We recognized two subgroups. In the first subgroup ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.03.006
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:The stringent dichotomy between focal and generalized epilepsies has become a contentious issue, since neuropathological studies as well as structural and functional imaging data hypothesized the existence of focal brain abnormalities in patients with well-documented idiopathic generalized epilepsy. The aim of ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(02)00084-0
更新日期：2002-08-01 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：:Epilepsy - the world's most common serious brain disorder - is defined by recurrent unprovoked seizures that result from complex interactions between distributed neural populations. We explore some macroscopic characteristics of emergent ictal networks by considering intracranial recordings from human subjects with in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.02.002
更新日期：2008-05-01 00:00:00
abstract：:Uncomplicated childhood-onset epilepsy is associated with increased brain amyloid load at late middle age, but its possible association with Alzheimer-type neurodegenerative processes is unclear. After 50-year follow-up, 42 childhood onset epilepsy subjects and 45 matched controls were investigated with [18F]fluorodeo...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.09.006
更新日期：2017-11-01 00:00:00
abstract：:Daily treatment of mice with diazepam leads to the development of tolerance to the anxiolytic and anticonvulsant effect of the benzodiazepine, while daily treatment with the proconvulsant benzodiazepine receptor inverse agonist FG 7142 produces sensitization to its effects in that seizures develop (chemical kindling)....
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(88)90016-2
更新日期：1988-07-01 00:00:00
abstract：:Jasmine flowers and leaves are used extensively in folk medicine in different parts of the world to treat a variety of diseases. However, there are very few published reports on the neuropsychiatric effects of Jasmine extracts. Hence, the objectives of the present study were to examine the effects of an alcohol extrac...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.02.012
更新日期：2017-03-01 00:00:00
abstract：:Glutamic acid decarboxylase autoantibodies (GADA) and anti-cardiolipin autoantibodies (ACA) have been detected in adult subjects with epilepsy, though the functional implications of these findings are a matter of debate. This study aimed to determine the prevalence of GADA and ACA and to investigate their clinical sig...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.02.009
更新日期：2013-07-01 00:00:00
abstract：:The role of the associative connections in the propagation of epileptiform discharges originating from an acute, localized epileptic focus in the anterior piriform cortex has been characterized recently in the in vitro isolated guinea-pig brain preparation. The present study demonstrates that the dorsal propagation of...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(96)00014-9
更新日期：1996-07-01 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：PURPOSE:The present study was planned as there is paucity of outcome data of children with infantile spasms, from India where profile of patients is different from the western world. Moreover, most previous studies have either not used strict inclusion criteria or standardized psychometric tests for developmental outco...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.12.009
更新日期：2014-03-01 00:00:00
