Abstract：
:Mutations in GABRG2, which encodes the γ2 subunit of GABAA receptors, can cause both genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. Most GABRG2 truncating mutations associated with Dravet syndrome result in premature termination codons (PTCs) and are stably translated into mutant proteins with potential dominant-negative effects. This study involved search for mutations in candidate genes for Dravet syndrome, namely SCN1A, 2A, 1B, 2B, GABRA1, B2, and G2. A heterozygous nonsense mutation (c.118C>T, p.Q40X) in GABRG2 was identified in dizygotic twin girls with Dravet syndrome and their apparently healthy father. Electrophysiological studies with the reconstituted GABAA receptors in HEK cells showed reduced GABA-induced currents when mutated γ2 DNA was cotransfected with wild-type α1 and β2 subunits. In this case, immunohistochemistry using antibodies to the α1 and γ2 subunits of GABAA receptor showed granular staining in the soma. In addition, microinjection of mutated γ2 subunit cDNA into HEK cells severely inhibited intracellular trafficking of GABAA receptor subunits α1 and β2, and retention of these proteins in the endoplasmic reticulum. The mutated γ2 subunit-expressing neurons also showed impaired axonal transport of the α1 and β2 subunits. Our findings suggested that different phenotypes of epilepsy, e.g., GEFS+ and Dravet syndrome (which share similar abnormalities in causative genes) are likely due to impaired axonal transport associated with the dominant-negative effects of GABRG2.
journal_name
Epilepsy Resjournal_title
Epilepsy researchauthors
Ishii A,Kanaumi T,Sohda M,Misumi Y,Zhang B,Kakinuma N,Haga Y,Watanabe K,Takeda S,Okada M,Ueno S,Kaneko S,Takashima S,Hirose Sdoi
10.1016/j.eplepsyres.2013.12.005subject
Has Abstractpub_date
2014-03-01 00:00:00pages
420-32issue
3eissn
0920-1211issn
1872-6844pii
S0920-1211(13)00337-9journal_volume
108pub_type
杂志文章abstract：:The purpose of the study was to evaluate the efficacy and safety of topiramate (TPM) as adjunctive therapy in children, adolescents and young adults with Lennox-Gastaut syndrome (LGS). We performed a prospective open label add-on study in 45 patients (age 4-34 years, mean 15.9 years) with LGS and refractory seizures. ...
journal_title：Epilepsy research
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1016/s0920-1211(02)00103-1
更新日期：2002-09-01 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：OBJECTIVE:We aim to delineate the genetic and clinical features of SCN8A developmental and epileptic encephalopathy. METHODS:Nine patients with SCN8A developmental and epileptic encephalopathy were included in this study. Genetic and clinical features and effectiveness of sodium channel blockers were assessed in patie...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106222
更新日期：2019-12-01 00:00:00
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 wit...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2019.106181
更新日期：2019-10-01 00:00:00
abstract：:Seizures induced by the convulsant methionine sulfoximine (MSO) resemble human "grand mal" epilepsy, and brain glutamine synthetase is inhibited. We recently selected two inbred lines of mice: sensitive to MSO (MSO-Fast) and resistant (MSO-Slow). In the present study, the selection pressure was increased and consangui...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.08.012
更新日期：2012-01-01 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：OBJECTIVES:Patients with epilepsy have excess morbidity and mortality due to ischemic cardiovascular disease. Many of these patients have elevated concentrations of plasma total homocysteine (Hcy), which is an acknowledged risk factor for cardiovascular disease, venous thromboembolic disease, foetal malformations and d...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.06.003
更新日期：2008-11-01 00:00:00
abstract：:Cooling has been shown to terminate experimentally induced epileptiform activity in models of epilepsy without causing injury to the cooled brain, suggesting that cooling could represent an approach to seizure control in intractable focal epilepsies. Here we sought to determine the most effective way to apply cooling ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2006.05.001
更新日期：2006-08-01 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
doi：10.1016/j.eplepsyres.2006.02.004
更新日期：2006-06-01 00:00:00
abstract：BACKGROUND:Valproate is used widely for the treatment of epilepsy but has been associated with hyperandrogenism, hyperinsulinemia, and dyslipidemia. The mechanism for these associations is unknown, but they have been hypothesized to be secondary to valproate-associated weight gain. This study was conducted to test the ...
journal_title：Epilepsy research
pub_type： 杂志文章,多中心研究
doi：10.1016/s0920-1211(03)00085-8
更新日期：2003-05-01 00:00:00
abstract：:A battery of psychometric tests was administered to 110 patients with epilepsy and to 24 non-epileptic controls. Eighty-four patients had been established on treatment with a single anticonvulsant drug (35 carbamazepine (CBZ), 30 sodium valproate (VPA), 19 phenytoin (PHT)) at unaltered dosage for the previous 3 months...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/0920-1211(90)90018-q
更新日期：1990-12-01 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：:The ketogenic diet (KD) remains a therapy in search of explanation although it is an established treatment of intractable epilepsy. Recent studies suggest that the KD may be both anticonvulsant and antiepileptogenic. Epileptic seizures have been shown to stimulate the proliferation rate of neuronal progenitor cells in...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2007.11.010
更新日期：2008-02-01 00:00:00
abstract：OBJECTIVE:Understanding the overall and common metabolic changes of seizures can provide novel clues for their control and prevention. Here, we aim to investigate the global metabolic feature of serum for three types of seizures. METHODS:We recruited 27 patients who had experienced a seizure within 48h (including 11 w...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2016.07.003
更新日期：2016-10-01 00:00:00
abstract：:The rat lateral fluid-percussion injury (FPI) model has been used extensively to study post-traumatic epilepsy (PTE). Epidemiological studies have reported that the risk of PTE is higher after more severe injury. Adult, male Wistar rats subjected to different atmospheric pressures of injury during FPI showed great var...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2018.09.005
更新日期：2018-11-01 00:00:00
abstract：OBJECTIVE:To characterize, in adolescents aged 12-17, the pharmacokinetic (PK) profile of perampanel, the impact of intrinsic and extrinsic factors on PK, and the relationships between perampanel exposure and cognitive function, seizure frequency, and responder status. METHODS:Population PK analysis used plasma concen...
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：: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：PURPOSE:Hippocampal sclerosis (HS) is the most common pathology in mesial temporal lobe epilepsy (MTLE). There are a few reports concerning prognosis in patients with MTLE-HS treated medically. The study was carried out to determine the clinical risk factors affecting prognosis. METHODS:We enrolled 287 patients with M...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2009.03.001
更新日期：2009-08-01 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：:The objective of the study was to validate the Chinese version of The Liverpool Adverse Events Profile (LAEP) in patients with epilepsy. The scale was translated from the English version into a Chinese version and was then back-translated to examine its accuracy. Content validity, concurrent validity, and construct va...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2011.01.008
更新日期：2011-03-01 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：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：:Post-stroke seizures occur in 5-20% of patients. Modeling of stroke-induced seizures in animals provides a useful tool for investigating the molecular basis of epileptogenesis and for developing therapies for stroke patients at increased risk for epileptogenesis. The questions addressed in the study were: (1) Do rats ...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/s0920-1211(03)00034-2
更新日期：2003-04-01 00:00:00
abstract：BACKGROUND:People with epilepsy may experience an altered pattern of mortality due to cancer. We determined cancer mortality in two distinct populations with epilepsy: (i) an institutionalised cohort with severe epilepsy (SEC) and (ii) another cohort with presumed milder epilepsy (MEC). METHODS:Mortality data from 197...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2008.11.001
更新日期：2009-02-01 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：BACKGROUND:High frequency oscillations (HFOs) have provided a new insight in understanding ictogenesis and seizure localization. In absence seizures, HFOs were predominantly localized in the medial prefrontal cortex (MPFC) in MEG studies. METHODS:We studied HFOs (80-250 Hz) in scalp EEGs in patients with absence epile...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2015.06.008
更新日期：2015-09-01 00:00:00
abstract：:Epilepsy affects about 1 % of the world population. Mesial temporal lobe epilepsy (mTLE) presents with seizures initiated in hippocampus and is the most frequent form of epilepsy. About 30 % of individuals with mTLE do not respond to conventional medications maintaining seizures and consequently new lesions on a daily...
journal_title：Epilepsy research
pub_type： 杂志文章
doi：10.1016/j.eplepsyres.2020.106427
更新日期：2020-10-01 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：: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：:Pharmacoresistant mesial temporal lobe epilepsy (mTLE) represents the major indication for epilepsy surgery. Since epilepsy surgery is an elective treatment option, preserving cognition is a high priority. Given the essential role of temporomesial structures in declarative long-term memory formation, surgical treatmen...
journal_title：Epilepsy research
pub_type： 杂志文章,评审
doi：10.1016/j.eplepsyres.2017.08.017
更新日期：2018-05-01 00:00:00
