Abstract：
:The deletion of a sodium channel gene cluster located on chromosome 2q24.3 is associated with variable epilepsy phenotypes, including Dravet syndrome and migrating partial seizures of infancy. Although SCN1A is considered as the major contributor to the epilepsy phenotype, the role of other sodium channel genes that map within this cluster has not been delineated. We presented five new cases with a chromosome 2q24.3 deletion involving SCN1A and investigated their epilepsy phenotype in relation to the extent of the deletion. Three cases with deletion of the whole sodium channel gene cluster (SCN3A, SCN2A, SCN1A, SCN9A, and SCN7A) exhibited a complex epilepsy phenotype that was atypical for Dravet syndrome and suggestive of migrating partial seizures of infancy: early seizure onset (before 2 months of age), severe developmental delay from seizure onset, multifocal interictal spikes, polymorphous focal seizures, and acquired microcephaly. Two cases with partial deletion of SCN1A and SCN9A and whole SCN1A deletion had an epilepsy phenotype of Dravet syndrome. A literature review of cases with chromosome 2q24.3 deletion revealed that, in most Dravet syndrome cases, it does not involve SCN2A and SCN3A, whereas a complex epilepsy phenotype that is shared with migrating partial seizures of infancy was associated with cases of deletion of the whole sodium channel gene cluster.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Lim BC,Hwang H,Kim H,Chae JH,Choi J,Kim KJ,Hwang YS,Yum MS,Ko TSdoi
10.1016/j.eplepsyres.2014.10.008subject
Has Abstractpub_date
2015-01-01 00:00:00pages
34-9eissn
0920-1211issn
1872-6844pii
S0920-1211(14)00287-3journal_volume
109pub_type
杂志文章abstract：:The present study investigated whether pharmacological stimulation of the GABAergic system can affect attention. The effects of vigabatrin, a novel antiepileptic drug, on the performance of rats in a 5-choice serial reaction time task assessing selective attention were studied. The effects of acute (100, 300, 500 and ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90057-z
更新日期：1992-12-01 00:00:00
abstract：:The epileptic baboon provides a natural model of idiopathic generalized epilepsy and sudden unexpected death in epilepsy (SUDEP). We sought to evaluate autonomic differences, including heart rate (HR), heart rate variability (HRV) and corrected QT-duration (QTc) between two epileptic (EB1, EB2) and one control (CB) ba...
journal_title：Epilepsy research
pub_type： 杂志文章
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更新日期：2019-09-01 00:00:00
abstract：PURPOSE:To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up. METHODS:Charts of 117 patients with ESES/CSWSS syndrom...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2013.02.010
更新日期：2013-07-01 00:00:00
abstract：:The effects of GABA uptake inhibitors, SKF 89976A and SKF 100330A, on recurrent inhibition were studied in the rat hippocampal slice preparation by the antidromic-orthodromic stimulation test. Population spikes evoked orthodromically by stimulation of the stratum radiatum and recorded in the CA1 pyramidal cell body la...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90026-4
更新日期：1993-10-01 00:00:00
abstract：:Cranial MRI has been shown to be a safe procedure in patients with a vagus nerve stimulator (VNS), but body MRI may cause overheating of the stimulator lead. Here we report a case of a patient with an implanted vagus nerve stimulator who required a cervical spinal MRI due to a rapidly progressive paraparesis. The spin...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.02.008
更新日期：2009-04-01 00:00:00
abstract：OBJECTIVE:We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS:We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.02.003
更新日期：2018-03-01 00:00:00
abstract：OBJECTIVE:to determine the feasibility as well as the attitudes among caregivers of children and adolescents with epilepsy in China towards the use of smart phone applications (apps) for the management of seizures. METHODS:The caregivers of children and adolescents with epilepsy, ages ranging from 0 to 15 years, were ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.08.002
更新日期：2016-11-01 00:00:00
abstract：OBJECTIVE:Ictal activity itself can cause pathological cerebrospinal fluid (CSF) findings. However, data regarding pathological CSF findings caused by SE itself to date remain scarce. We here evaluated the frequency and specificity of pathological CSF findings in non-infectious SE. METHODS:We performed a retrospective...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2017.12.008
更新日期：2018-02-01 00:00:00
abstract：OBJECTIVE:To study potential delays in epilepsy surgery in children with drug-resistant epilepsy (DRE) of early-onset. METHODS:Medical records were reviewed from 87 children with DRE and seizure onset before age 3 years who underwent epilepsy surgery between 2006 and 2015. Information was obtained about each child's e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.04.001
更新日期：2018-07-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.06.010
更新日期：2006-10-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.12.005
更新日期：2010-05-01 00:00:00
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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(90)90032-q
更新日期：1990-03-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.09.010
更新日期：2009-02-01 00:00:00
abstract：INTRODUCTION:Prior research has shown that people with epilepsy are at risk for a poorer health-related quality of life (HRQOL). However, patients differ greatly in how well they adjust to their epilepsy. To better understand these differences, the present study examined the role of personality. More specifically, we e...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106251
更新日期：2020-01-01 00:00:00
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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
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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 describe the clinical findings in a family with a benign form of mesial temporal lobe epilepsy and to identify the causative genetic factors. METHODS:All participants were personally interviewed and underwent neurologic examination. The affected subjects underwent EEG and most of them neuroradiological exam...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.11.002
更新日期：2014-02-01 00:00:00
abstract：:In rats, the concurrent alternate elicitation of epileptiform activity in two forebrain structures can result in both the rapid production of severe seizures and the development of fully generalized seizures in one (dominant) site, while arresting the progress of seizure activity at intermediate stages in the other (s...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00103-x
更新日期：1999-04-01 00:00:00
abstract：:The purpose of this study was to determine the influence of levetiracetam on the steady-state serum concentrations of other commonly used antiepileptic drugs (AEDs). Serum AED concentrations were measured at baseline and after adjunctive therapy with levetiracetam (1000-4000 mg/day) or placebo in four phase III trials...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,meta分析,随机对照试验
doi：10.1016/j.eplepsyres.2005.01.005
更新日期：2005-03-01 00:00:00
abstract：:There is a remarkable array of new chemical entities in the current antiepileptic drug (AED) development pipeline. In some cases, the compounds were synthesized in an attempt improve upon the activity of marketed AEDs. In other cases, the discovery of antiepileptic potential was largely serendipitous. Entry into the p...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
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更新日期：2006-06-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章
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更新日期：1990-11-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2016.08.025
更新日期：2016-11-01 00:00:00
abstract：BACKGROUND:Previous studies have identified numerous biological, psychological and social characteristics of persons with psychogenic non-epileptic seizures (PNES) however the strength of many of these factors have not been evaluated to determine which are predictive of the diagnosis compared to those that may only be ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.003
更新日期：2014-11-01 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：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:Little is known, so far, about the cerebral structural abnormalities in drug-naïve patients with childhood absence epilepsy (CAE). We aimed to investigate regional grey matter (GM) volume differences using voxel-based morphometry (VBM) in patients and closely matched healthy control subjects. METHODS:Twenty...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.05.003
更新日期：2016-08-01 00:00:00
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journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106362
更新日期：2020-08-01 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：:Generalized seizures can induce both hypertension and hyperglycemia which may aggravate preexisting cerebral or medical conditions in patients. In vivo fluorescent imaging of regional cortical blood flow and brain intracellular pH (pHi) was performed in fasted New Zealand rabbits (n = 35) in which either mean arterial...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(93)90017-2
更新日期：1993-02-01 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
