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 epidemiological characteristics of IE in the Chinese population, such as its heritability and genetic models remain unclear. PURPOSE:To study the clinical and epidemiological profile of IE, to estimate the heritability and determine the possible genetic models for IE in the Chinese Han population. METHODS:A case-control family-based study was carried out in a rural Chinese county. We collected data from eligible IE patients, controls, and their relatives by a uniform structured questionnaire, and then established an epidemiologic database of epilepsy using Access2010. General statistical and genetic epidemiological analyses (Falconer's-method-based heritability, simple segregation ratio and complex segregation analysis) were performed using SAS9.1 and the SAGE-SEGREG program. RESULTS:(1) The prevalence of IE among the relatives of probands with IE (2.75‰) was higher than that among the relatives of the control group (0.61‰). The prevalence of IE among the first-, second-, and third-degree relatives of the probands with IE was 11.45‰, 2.64‰ and 0.98‰, respectively, which were all higher than the corresponding prevalences in the relatives of controls. Trend-chi-squared tests indicated that the prevalence of epilepsy increased among the relatives of probands with decreasing kinship distance (χ(2)=97.16, P=0.00). (2) The heritability of IE among first-, second-, and third-degree relatives was 55.06%, 50.72% and 16.98%, respectively. The weighted mean heritability was 46.07%. (3) The simple segregation ratio of IE was 0.03, significantly lower than the Mendelian recessive segregation ratio of 0.25. Complex segregation analysis showed that the population we studied accepted a Mendelian genetic model (dominant, recessive, additive, and a major gene model) and excluded the general model, non-transmitted model, and environment-only model. A Mendelian additive inheritance model was ultimately the best-fit because it had the lowest Akaike Information Criteria score. CONCLUSION:In the Chinese Han population, IE follows a pattern of polygenic Mendelian additive inheritance rather than single-gene inheritance. Nearly half of the total variance can be explained by genetic factors.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Li M,Heng X,Tao R,Liu J,Zhang L,Sun X,Wang L,Wu Q,Che F,Xue Fdoi
10.1016/j.eplepsyres.2011.09.013subject
Has Abstractpub_date
2012-02-01 00:00:00pages
199-205issue
2-3eissn
0920-1211issn
1872-6844pii
S0920-1211(11)00277-4journal_volume
98pub_type
杂志文章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: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::Dichotic word listening asymmetries are thought to be useful in predicting side of temporal lobe dysfunction. However, little direct evidence exists to support this assumption in practice, especially in patients with subtle epileptogenic lesions. To determine if word listening ear asymmetries are valid predictors of s...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(94)90025-6
更新日期:1994-10-01 00:00:00
abstract:RATIONALE:Measurement of local cerebral blood flow (LCBF) is routinely used to locate the areas involved in the generation and spread of seizures in epileptic patients. Since the spatial distribution and extent of ictal LCBF depends on the epileptogenic network, but also on the timing of injection of tracer, we used a ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2006.01.008
更新日期:2006-05-01 00:00:00
abstract::Benign childhood epilepsy with occipital paroxysms is classified among childhood benign partial epilepsies. The absence of neurological and neuropsychological deficits has long been considered as a prerequisite for a diagnosis of benign childhood partial epilepsy. Much evidence has been reported in literature in the l...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2005.03.004
更新日期:2005-05-01 00:00:00
abstract::Application of 4-aminopyridine (4-AP, 100μM) in a solution containing 0.6mM Mg(2+) and 1.2mM Ca(2+) to hippocampal-entorhinal-perirhinal slices of adult rat brain induced ictal-like epileptiform activity in entorhinal and perirhinal cortices as revealed by electrophysiological field potential recordings. The ictal-lik...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.01.017
更新日期:2011-05-01 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::Huperzine A (HupA) is a naturally occurring compound found in the firmoss Huperzia serrata. While HupA is a potent acetylcholinesterase inhibitor, its full pharmacologic profile is incompletely described. Since previous works suggested a capacity for HupA to prophylax against seizures, we tested the HupA antiepileptic...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.08.012
更新日期:2015-11-01 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:PURPOSE:Epilepsy is associated with an increased mortality. This study estimates the effects of co-morbid disorders on short-term and long-term mortality and presents cause-specific mortality for children and young adults with epilepsy. METHODS:We established a population-based cohort of 1,855,946 children born in Den...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.05.001
更新日期:2015-08-01 00:00:00
abstract:PURPOSE:Women with epilepsy often suffer from weight gain. A similar phenomenon is seen in female rats that are kindled from the amygdala. Interestingly, it has been reported that kindling of the left amygdala causes more weight gain than kindling of the right amygdala. The present study was designed to confirm and ext...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2009.07.007
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND:Many new antiepileptic drugs (AEDs) have become available in recent years. Investigations of prescription patterns and exposure of AEDs to different patient groups are important regarding drug safety aspects. The aim of this study was to investigate the use of AEDs in epilepsy, with focus on exposure of AEDs...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2011.02.012
更新日期:2011-06-01 00:00:00
abstract::Familial frontal epilepsy has been recently described in six pedigrees. All families reported show autosomal dominant inheritance with incomplete penetrance. Affected individuals develop predominantly nocturnal seizures with frontal lobe semiology. In 1959, a genetic mouse model for partial epilepsy, the El mouse, was...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/0920-1211(95)00049-6
更新日期:1995-11-01 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
abstract::Comorbid conditions may affect the quality of life in persons with epilepsy (PWE) more than seizures. Using legally mandated healthcare encounter data, somatic, psychiatric, and neurodevelopmental comorbidities in a large population-based cohort of PWE, were compared to persons with migraine (PWM), a similar neurologi...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2013.12.002
更新日期:2014-02-01 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::Although memory, language, and executive functions have been extensively studied in patients with mesial temporal lobe epilepsy (MTLE), few investigations of the decision-making abilities of these patients have been performed. We studied implicit decision-making (decisions under ambiguity) in right and left MTLE patie...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2010.10.009
更新日期:2011-01-01 00:00:00
abstract::This paper reports the first systematic review of uncommon causes of status epilepticus reported in the literature between 1990 and 2008. Uncommon causes are defined as those not listed in the main epidemiological studies of status epilepticus. 181 causes were identified. These were easily categorised into 5 specific ...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/j.eplepsyres.2010.07.015
更新日期:2010-10-01 00:00:00
abstract::We have reported long-term clinical follow-up for two siblings with Lafora disease, a brother and sister, one of whom autopsied. Both siblings had repeated attacks of severe myoclonus, tonic and tonic-clonic convulsions, and intractable status epilepticus. The addition of orally administered zonisamide brought about s...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(01)00282-0
更新日期:2001-09-01 00:00:00
abstract:OBJECTIVES:To evaluate the agreement between magnetoencephalography (MEG) and intracranial electroencephalography (ICEEG) results, to determine the characteristics that lead to concordance, and to assess how these factors relate to favorable epilepsy surgery outcome. MATERIALS:This retrospective study reviewed 50 pati...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2014.08.016
更新日期:2014-11-01 00:00:00
abstract::Aminergic signalling in the CNS is terminated by clearance of neurotransmitters from the synapse via high affinity transporter molecules in the presynaptic membrane. Relatively recent sequence identification of these molecules has now permitted the initiation of studies of regulation of transporter function at the cel...
journal_title:Epilepsy research
pub_type: 杂志文章,评审
doi:10.1016/s0920-1211(99)00072-8
更新日期:1999-12-01 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:SUMMARY:Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is known to be partly caused by mutations in the transmembrane domain (TM) 1-3 of the genes of the neuronal nicotinic acetylcholine receptor (nAChR) alpha4-subunit (CHRNA4), beta2-subunit (CHRNB2) and alpha2-subunit (CHRNA2). The more common cases of s...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2008.10.009
更新日期:2009-02-01 00:00:00
abstract::A role of cholinergic nervous system in the behavioral impairments induced by repeated ECS is not understood. The α4β2 nicotinic acetylcholine receptor (nAChR) agonist ABT-418, but not the α7 nAChR agonist, significantly ameliorated the impairment of spontaneous alternation behavior in the Y-maze test. And, repeated E...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2012.09.017
更新日期:2013-03-01 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:OBJECTIVE:There have been no validated Medicare claims-based algorithms available to identify epilepsy by discrete etiology of stroke (e.g., post-stroke epilepsy, PSE) in community-dwelling elderly individuals, despite the increasing availability of large datasets. Our objective was to validate algorithms that detect w...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2019.02.002
更新日期:2019-03-01 00:00:00
abstract::Felbamate (FBM; 2-phenyl-1,3-propanediol dicarbamate) is an approved antiepileptic drug shown to be effective in a variety of seizure disorders refractory to other treatments. However, its use has been restricted because of association with occurrence of rare cases of aplastic anemia and hepatic failure. Since it was ...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/s0920-1211(01)00320-5
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Using the gamma-butyrolactone (GBL) model of absence seizures in Long-Evans rats, this study investigated if 2.5-6 Hz paroxysmal discharges (PDs) induced by GBL were synchronized among the thalamocortical system and the hippocampus, and whether inactivation of the hippocampus affected PDs. METHODS:Local fiel...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2015.12.007
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:Asymmetry of hippocampal internal architecture (HIA) clarity has been suggested to be a sign of hippocampal sclerosis (HS) and is frequently associated with other MRI findings of HS. The goal of this work is to use a previously developed HIA visual scoring system (Ver Hoef et al., 2013) to quantify HIA asymm...
journal_title:Epilepsy research
pub_type: 杂志文章
doi:10.1016/j.eplepsyres.2013.05.008
更新日期:2013-09-01 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