Abstract：
:Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Muir AM,Myers CT,Nguyen NT,Saykally J,Craiu D,De Jonghe P,Helbig I,Hoffman-Zacharska D,Guerrini R,Lehesjoki AE,Marini C,Møller RS,Serratosa J,Štěrbová K,Striano P,von Spiczak S,Weckhuysen S,Mefford HC,EuroEPINOMICS-REdoi
10.1016/j.eplepsyres.2019.106181subject
Has Abstractpub_date
2019-10-01 00:00:00pages
106181eissn
0920-1211issn
1872-6844pii
S0920-1211(19)30337-7journal_volume
156pub_type
杂志文章abstract：INTRODUCTION:Grammar is a core component of the language system, yet it is rarely assessed during the Wada (intracarotid amobarbital) test. It is hypothesized that adding grammar tests to the recovery phase of the Wada test will increase our ability to lateralize language function. METHOD:Sixteen individuals (nine fem...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.014
更新日期：2014-12-01 00:00:00
abstract：:Most people with epilepsy live in tropical countries. Perinatal factors seem to play a significant role in the occurrence of epilepsy. Available data provide different and sometimes contradictory conclusions on the role and the burden of these factors. The aim of our study was to evaluate the effect of these perinatal...
journal_title：Epilepsy research
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.eplepsyres.2018.07.004
更新日期：2018-10-01 00:00:00
abstract：:Multiple forms of the ketogenic diet (KD) have been successfully used to treat drug-resistant epilepsy, however its mainstream use as a first-line therapy is still limited. Further investigation into its clinical efficacy as well as the molecular basis of activity is likely to assist in the reversal of any resistance ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2011.04.017
更新日期：2012-07-01 00:00:00
abstract：AIM:Seizures originating from the parietal lobe can demonstrate variable semiology. Our aim was to describe the electroclinical features of seizures originating from the mesial parietal lobe. METHOD:We identified four patients through the Comprehensive Epilepsy Program at our institution, who had strong evidence of a ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.09.011
更新日期：2014-12-01 00:00:00
abstract：:Multiple subpial transection (MST) is an effective surgical therapy for patients with intractable seizures whose epileptogenic lesions lie in the cortex and are unresectable. Morrell developed this procedure and reported clinical results obtained using it. However, only the disappearance of epileptiform discharges aft...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(95)00003-s
更新日期：1995-05-01 00:00:00
abstract：:The KCNAB1 gene is a candidate susceptibility factor for lateral temporal epilepsy (LTE) because of its functional interaction with LGI1, the gene responsible for the autosomal dominant form of LTE. We investigated association between polymorphic variants across the KCNAB1 gene and LTE. The allele and genotype frequen...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.01.010
更新日期：2011-03-01 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：PURPOSE:To determine the feasibility of using epileptiform events detected by continuous electrocorticographic monitoring via a brain-responsive neurostimulation system to supplement patient-maintained seizure diaries. METHODS:Data were retrospectively analyzed from a randomized controlled trial of brain-responsive ne...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106302
更新日期：2020-03-01 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：:Posttraumatic epilepsy is a common consequence of traumatic brain injury in humans. Major predictors for the development of posttraumatic epilepsy include the severity of injury and occurrence of cortical contusions. The effect of the size or location of the cortical lesion on the risk of epileptogenesis, however, is ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2010.03.007
更新日期：2010-06-01 00:00:00
abstract：OBJECTIVE:To assess functional organization of the motor cortex in patients with Unverricht-Lundborg disease (EPM1A) using a combined neurophysiologic and imaging approach. METHODS:EPM1A patients underwent transcranial magnetic stimulation (TMS)-based cortical mapping of the motor hand area. Moreover, they performed n...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106278
更新日期：2020-02-01 00:00:00
abstract：OBJECTIVE:Aphasic status epilepticus (ASE), although rare, may often remain underdiagnosed. We aimed to report the patients diagnosed with ASE and describe their clinical presentation, etiology, electrophysiological findings, neuroimaging, treatment options, and outcome. METHODS:We retrospectively analyzed a series of...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106479
更新日期：2020-11-01 00:00:00
abstract：:The new antiepileptic drug zonisamide was evaluated in a European multicenter parallel-group double-blind trial as add-on treatment for 139 patients with refractory partial epilepsy. During treatment with zonisamide complex partial seizures decreased by 27.7% compared to placebo (P < 0.05) and the median rate dropped ...
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(93)90011-u
更新日期：1993-05-01 00:00:00
abstract：UNLABELLED:Gabapentin (GBP) is a non-metabolized antiepileptic drug that is eliminated by renal excretion and displays saturable, dose dependent absorption. The recommended dosing schedule for GBP is t.i.d. At large daily doses, oral bioavailability (F) may be improved by giving the daily dose more frequently. OBJECTI...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章
doi：10.1016/s0920-1211(98)00020-5
更新日期：1998-07-01 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：: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：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：: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：:To clarify the mechanisms of the antiepileptic activity of phenytoin (PHI), the effects of PHT on extracellular and total levels of monoamines (dopamine and serotonin), in rat striatum and hippocampus were studied. The plasma concentrations of PHT associated with therapeutic activity did not affect striatal and hippoc...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(97)00043-0
更新日期：1997-09-01 00:00:00
abstract：:The common features of all types of epilepsy are the synchronized and uncontrolled discharges of nerve cell assemblies. The reason for the pathologically synchronized discharges of the neuron is not exactly known yet. Recent reports claim that gap junctions have a critical role in neuronal synchronization. The present...
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
abstract：:Status epilepticus (SE) is a common neurological and medical emergency. Despite the significant mortality associated with SE, no human data have been available regarding cardiovascular changes prior to death in patients with this condition. This study was conducted to measure hemodynamic trends in the 24 h prior to de...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(98)00031-x
更新日期：1998-08-01 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：:Recent years have witnessed an increased interest from pediatric neurologists, neuropediatricians, epileptologists and general neurologists in the use of the ketogenic diet (KD) for the management of refractory epilepsies, particularly in children and adolescents. This article summarizes current knowledge on various i...
journal_title：Epilepsy research
pub_type： 共识发展会议,杂志文章
doi：10.1016/j.eplepsyres.2005.10.003
更新日期：2006-02-01 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：AIM:This cross-sectional study examined whether growth parameters were associated with epilepsy in children living in a rural community in sub-Saharan Africa (SSA). MATERIALS AND METHODS:A cross-sectional study was performed in the Hai District Demographic Surveillance Site (HDSS), Tanzania in which 6-14 year old chil...
journal_title：Epilepsy research
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.eplepsyres.2014.06.014
更新日期：2014-10-01 00:00:00
abstract：:A randomised, double-blind, placebo-controlled crossover study of add-on remacemide hydrochloride was carried out in epilepsy patients being treated with phenytoin (PHT) monotherapy. Eleven patients were recruited, ten of whom completed the study. Plasma concentration profiles of PHT, remacemide, and its active desgly...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0920-1211(96)01005-4
更新日期：1997-01-01 00:00:00
abstract：:In the brain, injury-induced gliosis and axonal sprouting have been regarded as age-dependent repairing processes with, unfortunately, epileptogenic effects. The present study examines whether brains injured at different developmental stages become more or less susceptible to experimentally-induced status epilepticus....
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(03)00029-9
更新日期：2003-03-01 00:00:00
abstract：INTRODUCTION:Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting multiple organs, including the brain, and very often associated with epileptic activity. Language acquisition and development seems to be altered in a significant proportion of patients with TSC. In the present study, we used magn...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2012.09.011
更新日期：2013-03-01 00:00:00
abstract：OBJECTIVE:To validate the Chinese version of the Generalized Anxiety Disorder-7 (GAD-7) in Chinese people with epilepsy (PWE). METHODS:A consecutive cohort of PWE from the West China Hospital was recruited. Each patient received a psychiatric evaluation comprising the Mini International Neuropsychiatric Interview (MIN...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.11.019
更新日期：2016-02-01 00:00:00
abstract：:Mutations of genes coding for ion channels cause several genetically determined human epileptic syndromes. The identification of a gene variant linked to a particular disease gives important information, but it is usually necessary to perform functional studies in order to completely disclose the pathogenic mechanisms...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2010.08.003
更新日期：2010-11-01 00:00:00
