Abstract：
PURPOSE:The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics and the inheritance pattern. METHOD:We included a total of 25 families with two or more members affected with MTLE during two years and elaborated a family pedigree for each family. The inheritance pattern was classified as autosomal dominant (AD) or autosomal recessive (AR), considering the affected members. We used statistical analysis association and differences between clinical characteristics and inheritance patterns. RESULTS:The affected families with the AD pattern were 15.7 fold times more likely to start seizures at 5 years of age or earlier than families with AR pattern, OR = 15.7 (IC 95% = 1.9-128.9). We observed a predominance and greater déjà vu association (64.4% vs 31.3%; p = 0.021), OR = 3.9 (CI 95% = 1.1-13.5) in patients with AD versus AR pattern. Finally, we identified that patients with AD pattern had a likelihood of presenting emotional alterations 5.6 times higher than AR (OR = 5.6, IC = 1.1-27.5). CONCLUSION:FMTLE is a heterogeneous syndrome, both phenotypically and genotypically; thus, our findings may be helpful for clinical use to perform an early diagnosis, to provide timely treatment, and to prevent comorbidities associated to this disease. However, in order to identify the possible genetic causes underlying these inheritance patterns, the use of molecular studies is necessary.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Guzmán-Jiménez DE,Campos JB,Venegas-Vega CA,Sánchez MA,Velasco ALdoi
10.1016/j.eplepsyres.2020.106450subject
Has Abstractpub_date
2020-11-01 00:00:00pages
106450eissn
0920-1211issn
1872-6844pii
S0920-1211(20)30500-3journal_volume
167pub_type
杂志文章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：: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：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: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：: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：:Increased prevalence of autoantibodies has been suggested in patients with epilepsy. This study determined the presence of autoantibodies in a representative cohort of 960 patients with epilepsy. The frequency of antinuclear antibodies (ANA), immunoglobulin G class anticardiolipin antibodies (aCL) and anti-B2-glycopro...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.12.004
更新日期：2004-01-01 00:00:00
abstract：BACKGROUND:Nuclear factor erythroid-2 related factor 2 (Nrf2) is a transcription factor, which activates the anti-oxidative stress response pathway. In epilepsy, oxidative stress is one of the key factors in the progression of the disease. So, the neuroprotective role of dimethyl fumarate (DMF), a Nrf2 pathway activato...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.02.011
更新日期：2018-07-01 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：: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：:Glutamatergic ionotropic and metabotropic receptor modulators have been shown to produce anticonvulsant activity in a number of animal seizure models, e.g. maximal electroshock (MES) and DBA/2 sensory-induced seizures. The 6 Hz model of partial seizures is an alternative low frequency, long duration stimulation paradi...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2003.08.001
更新日期：2003-09-01 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：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
abstract：AIMS:To investigate the pathophysiology of pharmacoresistant epilepsies with cryptogenic generalised tonic-clonic seizures (GTCS) from infancy. METHODS:18F-Deoxy-Glucose-Positron Emission Tomography 18FDG-PET) with statistical parametric mapping (SPM). Inclusion criteria were: pharmacoresistant chronic epilepsy with G...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2004.05.006
更新日期：2004-06-01 00:00:00
abstract：:The present study intends to identify factors that predict postoperative clinical outcome in patients with gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT). We evaluated the medical records of 45 patients with GG and 13 patients with DNT, treated surgically between 1985 and 1995. We assessed sever...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(00)00208-4
更新日期：2001-03-01 00:00:00
abstract：PURPOSE:Although absence epilepsy is considered to be a prototypic type of generalized epilepsy, it is still under debate whether generalized 3 Hz spike-and-wave discharges (SWDs) might have a cortical focal origin. Here it is investigated whether focal interictal epileptiform discharges (IEDs), which typically occur i...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.11.013
更新日期：2016-01-01 00:00:00
abstract：:This prospective study examined the effects of the new antiepileptic drug (AED) gabapentin (GBP) compared to the standard AED carbamazepine (CBZ) and placebo (PLA) on eye movements, posture and finger force control in 12 healthy volunteers who received single doses of 600 mg GBP and 400 mg CBZ in a placebo-controlled,...
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(98)00015-1
更新日期：1998-06-01 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
abstract：OBJECTIVE:Approximately 80% of glioma patients will experience at least one seizure activity during the course of the disease, and because the etiology of glioma-related seizure is most likely multifactorial and complex, it remains poorly understood. MicroRNAs are a class of small noncoding RNAs that function as critic...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.08.005
更新日期：2016-11-01 00:00:00
abstract：:Evidence-based treatment guidelines and practice parameters have been developed in most areas of medicine. They are important because insurance companies, formulary managers, and health maintenance organizations rely on guidelines for formulary and coverage decisions. The methodology for practice parameter development...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2005.09.021
更新日期：2006-01-01 00:00:00
abstract：OBJECTIVE:To quantitatively analyze trajectory of movement in automatisms with temporal lobe epilepsy (TLE) and frontal lobe epilepsy (FLE). METHODS:Twenty markers were attached to chosen body parts of patients, and 10 videos of seizures were recorded. The obtained videos were converted into digital matrices. Motor tr...
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：:Absence seizures are thought to be linked to abnormal interplays between regions of a thalamocortical network. However, the complexity of this widespread network makes characterizing the functional interactions among various brain regions challenging. Using whole-brain functional connectivity and network analysis of m...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.06.001
更新日期：2018-09-01 00:00:00
abstract：:Severe paediatric epilepsies such as CDKL5 Deficiency Disorder (CDD) are extremely debilitating, largely due to the early-onset and refractory nature of the seizures. Existing treatment options are often ineffective and associated with a host of adverse effects, causing those that are affected to seek alternative trea...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2019.02.001
更新日期：2019-03-01 00:00:00
abstract：:Novel treatments for epilepsy are necessary because many epilepsy patients are resistant to medication. Metabotropic glutamate receptors (mGluRs), specifically mGluR 2 and 3, may serve as antiepileptic drug targets because of their role in controlling synaptic release. In this study, we administered a Group 2 mGluR ag...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2013.10.009
更新日期：2014-02-01 00:00:00
abstract：:It has previously been suggested that abnormalities in cardiac repolarization (QTc lengthening and shortening) are more likely to accompany seizures with hypoxemia and may be involved in sudden unexpected death in epilepsy (SUDEP). Accordingly, we evaluated for associations between peri-ictal QTc changes and hypoxemia...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2014.03.016
更新日期：2014-07-01 00:00:00
abstract：:CYP2C9 is mainly responsible for the metabolic clearance of phenytoin and (S)-warfarin. We have shown previously that mutations in the CYP2C9 gene are associated with diminished metabolism of (S)-warfarin, and so we have now studied the metabolism of phenytoin to its primary inactive metabolite, (S)-pHPPH, by these mu...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(99)00017-0
更新日期：1999-07-01 00:00:00
abstract：:Surgical resection of the seizure onset zone (SOZ) requires that this region of the cortex is accurately localized. The onset of a seizure may be marked by transient discharges, but it also may be accompanied by oscillatory, sinusoidal electrographic activity, such as the EEG theta rhythm. However, because of the supe...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.07.006
更新日期：2018-10-01 00:00:00
abstract：:A brief review of kindling is provided, which highlights some important points of historical interest often overlooked by researchers. These points include the fact that the original rating scale of convulsive seizures presented by Racine 'EEG Clin. Neurophysiol 32 (1972) 281'. was based on amygdala kindling, and may ...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(02)00071-2
更新日期：2002-06-01 00:00:00
abstract：OBJECTIVE:Recent studies have suggested that the early introduction of a ketogenic diet (KD) could improve seizure control in myoclono-astatic epilepsy (MAE). This multicenter study sought to identify the benefits of KD use on seizure control and epilepsy and on developmental outcomes in children with resistant MAE. M...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/j.eplepsyres.2017.02.005
更新日期：2017-03-01 00:00:00
abstract：:Alterations in the level of consciousness may render the interpretation of the memory test results from the intracarotid amobarbital procedure difficult. The present study was designed to investigate the impact of inattention and somnolence on memory performance during the Amytal test. Nineteen consecutive patients un...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(92)90079-9
更新日期：1992-09-01 00:00:00
abstract：:Although treatment of epilepsy easily evolves into a situation of overtreatment, reversing the process can be difficult and time consuming. Benefits of reducing overtreatment may include a decrease in side effects, better seizure control, a simplification in the medication regimen, improved compliance, and reduced cos...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/s0920-1211(02)00185-7
更新日期：2002-11-01 00:00:00
