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 treatment were observed in a cohort of PDE patients with early onset of seizure. Video-electroencephalogram (VEEG) and magnetic resonance imaging (MRI) were performed. The mutation of ALDH7A1 gene was analyzed. RESULTS:Of eight patients, six were males and two were females. Age of seizure onset ranged from 1 to 100 days and 75% patients presented with seizures in the neonatal period. All patients showed different degrees of developmental delay. EEGs showed focal or multifocal discharges, or were normal. Molecular analysis revealed 10 ALDH7A1 mutations, including 2 splice site mutations. Five patients had mutation at IVS11+1G>A site, six patients had missense mutations, one with nonsense mutation and another patient had 9-bp genomic deletion mutation. Among them, two mutations were first time reported. CONCLUSIONS:Seizure onset was in neonatal or early infantile period in our PDE patients. Early recognition and diagnosis of the disease is necessary for early intervention and improve cognitive development in the later life. In this study, on the molecular level, we also identified the splice site mutation IVS11+1G>A as a high prevalence mutation site with a frequency of 31.25% (5 of 16 alleles) in Chinese PDE patients.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Xue J,Qian P,Li H,Wu Y,Liu X,Yang Zdoi
10.1016/j.eplepsyres.2015.10.002subject
Has Abstractpub_date
2015-12-01 00:00:00pages
1-4eissn
0920-1211issn
1872-6844pii
S0920-1211(15)30057-7journal_volume
118pub_type
杂志文章abstract：OBJECTIVES:There is shortage of specialists for the diagnosis of children with epilepsy, especially in resource limited settings. Existing INCLEN (International Clinical Epidemiology Network) instrument was validated for children aged 2-9 years. The current study validated modifications of the same including wider symp...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.01.008
更新日期：2017-02-01 00:00:00
abstract：:NMDA, AMPA, and kainate receptors are the principal excitatory receptors in the brain. These receptors have been considered as the main targets in the treatment of epilepsy in recent years. This work aimed to determine how the Ca2+ conductivity of ionotropic glutamate receptors and voltage-gated Ca2+ channels changes ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106224
更新日期：2019-12-01 00:00:00
abstract：PURPOSE:Ictal magenetoencephalographic (MEG) discharges convey significant information about ictal onset and propagation, but there is no established method for analyzing ictal MEG. This study sought to clarify the usefulness of time-frequency analyses using short-time Fourier transform (STFT) for ictal onset and propa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.05.001
更新日期：2010-08-01 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：:Single photon emission computed tomography (SPECT) is increasingly being used as an adjunctive technique in the localisation of epileptogenic foci prior to surgery. As yet, few studies have been undertaken to establish the clinical associations of areas of reduced cerebral perfusion. Sixty-three consecutive patients (...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90010-q
更新日期：1992-10-01 00:00:00
abstract：:Granule cell dispersion (GCD), a structural abnormality, is characteristic of temporal lobe epilepsy (TLE). Eugenol (EUG) is an essential component of medicinal herbs and is suggested to exert anticonvulsant activity. However, it is unclear whether EUG ameliorates the abnormal morphological changes in granule cells in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.06.001
更新日期：2015-09-01 00:00:00
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 my...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2006.01.014
更新日期：2006-08-01 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：:Temporal lobe epilepsy (TLE) is the most common type of epilepsy with about one third of TLE patients being refractory to antiepileptic drugs. Knowledge about the mechanisms underlying seizure activity is fundamental to the discovery of new drug targets. Brain Na(+),K(+)-ATPase activity contributes to the maintenance ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.025
更新日期：2014-12-01 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：:In rats with electrodes implanted in the hippocampus or amygdala, the effect was studied of a single episode of low frequency stimulation (125 msec, biphasic 4 Hz, for 1 min at a current 50% of threshold for after-discharge), LFS, on the after-discharge thresholds (ADTs) during the course of hippocampal and amygdaloid...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90029-6
更新日期：1989-05-01 00:00:00
abstract：PURPOSE:Recent analyses provided evidence that human adult cerebrospinal fluid (CSF) in addition to soluble proteins also contains membrane particles that moreover carry the somatic stem cell marker CD133. The significance of CD133 as a potential marker of cellular proliferation, including neurogenesis, remains unresol...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.10.029
更新日期：2012-03-01 00:00:00
abstract：BACKGROUND:When pharmacotherapy for epilepsy fails, surgical options, although efficacious, are highly invasive. We explored whether ablation of the cerebral cortex can be performed utilizing the cerebral venous system. METHODS:Mapping and radiofrequency ablation was performed via the venous system in two pigs. RESUL...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.03.023
更新日期：2008-08-01 00:00:00
abstract：:The effects of systemic pretreatment with morphine sulfate (MS) on electroencephalographic (EEG) manifestations of seizures due to bicuculline (BIC) were studied in freely moving rats. Electrodes were placed on frontal and occipital cortices, into the hippocampus and into a region of the prepiriform cortex, area tempe...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(89)90012-0
更新日期：1989-09-01 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：:This study was planned so as to evaluate whether magnetic field exposure has any significant effect on the pentylenetetrazol (PTZ)-induced seizures. Mice were exposed to 50 Hz, 2 G (0.2 mT) magnetic field in glass cages for 1 h. Sham exposure was produced by turning off the current while the animals were in the same e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(00)00193-5
更新日期：2001-04-01 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：:Opioid peptide release was monitored in the amygdala and hippocampus of freely moving rats following a single oral administration of gabapentin using microdialysis. Extracellular opioid peptide levels were elevated above basal levels in the amygdala within the first 60 (54%) and 90 min (68%) after gabapentin administr...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00121-1
更新日期：1999-05-01 00:00:00
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：:Previous work showed that bilateral lesions made between the inferior and superior colliculi reduced the severity of audiogenic seizures in genetically epilepsy-prone rats (GEPR-9s), and indicated that the connections between these two structures are vital for the propagation of seizure activity. To determine the invo...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(96)01011-x
更新日期：1997-03-01 00:00:00
abstract：:Results of previous studies suggested that the brainstem participates in amygdaloid (AM) kindled seizure generalization and the positive transfer effect at the secondary site AM. This study was undertaken to define the role of the brainstem in the patterning of AM kindling, the maintenance of AM kindled seizure and th...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00068-5
更新日期：1998-01-01 00:00:00
abstract：PURPOSE:Diffusion tensor imaging (DTI) provides information about magnitude (diffusivity) and directionality (anisotropy, FA) of water diffusion. We explored the characteristics of pathology-proven cortical dysplasia (CD) in the posterior quadrant in a case series of three patients using DTI measures, to assess associa...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.03.006
更新日期：2010-08-01 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：:Food intake triggers convulsions in fasted mice and rats treated with antimuscarinic drugs, scopolamine or atropine. Most of the drugs produced anticonvulsant efficacy in these convulsions have sedative effects. Thus, the present study was performed to evaluate the contribution of sedation in the suppression of convul...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.10.011
更新日期：2010-03-01 00:00:00
abstract：INTRODUCTION:Recent ILAE classification defined focal cortical dysplasia (FCD) patients with accompanying epileptic lesions as a separate group. We investigated data of patients with sole FCD lesions regarding long-term seizure outcome and different characteristics of FCD type 1 and type 2 patients. METHODS:Eighty chi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.08.008
更新日期：2017-10-01 00:00:00
abstract：:Metalloproteinase 9 (MMP9) is a member of a family of enzymes that mediate the degradation of extracellular matrix proteins, and is especially involved in blood-brain barrier maintenance. Increased levels of MMP9 have been observed in many neurological disorders, including epilepsy, suggesting it may be involved in th...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.11.006
更新日期：2017-01-01 00:00:00
abstract：:Food intake triggers convulsions in fasted BALB/c mice and Wistar albino rats treated with antimuscarinic drugs, scopolamine or atropine. Inbred strain studies have yielded considerable information regarding genetic influences on seizure susceptibility and factors contribute to epileptogenesis in rodents. This study, ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.03.001
更新日期：2015-05-01 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：STUDY OBJECTIVE:Non-convulsive seizures/status epilepticus occur in approximately 20% of comatose, non-cardiac arrest intensive care unit (ICU) patients, and are associated with increased mortality. The prevalence and clinical significance of seizures in comatose survivors of cardiac arrest undergoing therapeutic hypot...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.06.018
更新日期：2013-10-01 00:00:00
abstract：:Seletracetam (SEL), an analog of the antiepileptic drug levetiracetam (LEV), decreases seizure activity in a number of epilepsy models and binds to the synaptic vesicle protein SV2A with a higher affinity than LEV. Experiments were performed to determine if SEL, like LEV, reduces the later EPSPs in long trains of stim...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.08.006
更新日期：2015-11-01 00:00:00
