bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional Analysis of the RING-Type Ubiquitin Ligase Family of Arabidopsis
Authors: Stone Sophia L. , Hauksdóttir Herborg , Troy Andrew , Herschleb Jill , Kraft Edward , Callis Judy 
Published: January 2005

AbstractApproximately 5% of the Arabidopsis (Arabidopsis thaliana) proteome is predicted to be involved in the ubiquitination/26S proteasome pathway. The majority of these predicted proteins have identity to conserved domains found in E3 ligases, of which there are multiple types. The RING-type E3 is characterized by the presence of a cysteine-rich domain that coordinates two zinc atoms. Database searches followed by extensive manual curation identified 469 predicted Arabidopsis RING domain-containing proteins. In addition to the two canonical RING types (C3H2C3 or C3HC4), additional types of modified RING domains, named RING-v, RING-D, RING-S/T, RING-G, and RING-C2, were identified. The modified RINGs differ in either the spacing between metal ligands or have substitutions at one or more of the metal ligand positions. The majority of the canonical and modified RING domain-containing proteins analyzed were active in in vitro ubiquitination assays, catalyzing polyubiquitination with the E2 AtUBC8. To help identity regions of the proteins that may interact with substrates, domain analyses of the amino acids outside the RING domain classified RING proteins into 30 different groups. Several characterized protein-protein interaction domains were identified, as well as additional conserved domains not described previously. The two largest classes of RING proteins contain either no identifiable domain or a transmembrane domain. The presence of such a large and diverse number of RING domain-containing proteins that function as ubiquitin E3 ligases suggests that target-specific proteolysis by these E3 ligases is a complex and important part of cellular regulation in Arabidopsis.
Epilepsy in Wolf‐Hirschhorn Syndrome (4p‐)
Authors: Kagitani‐Shimono Kuriko , Imai Katsumi , Otani Kazumasa , Kamio Noriko , Okinaga Takeshi , Toribe Yasuhisa , Suzuki Yasuhiro , Ozono Keiichi 
Published: January 2005

Summary: Purpose:We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf‐Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures and status epilepticus.Methods:We reviewed 11 cases of Wolf‐Hirschhorn syndrome (age range, 2–25 years; SD, 7.2 years) and who were treated in Osaka University or Osaka Medical Center of Research Institute for Maternal and Child Health.Results:In all patients, febrile or afebrile convulsions had developed. Epileptic seizures included alternative hemiconvulsions, generalized tonic–clonic seizures, focal clonic seizures, tonic seizures, and epileptic spasms. Seizures were often induced by a high fever or a hot bath. Status epilepticus occurred in all patients, including one patient who died at the first status epilepticus. In some cases, intratracheal intubation was needed because of respiratory insufficiency. The effective antiepileptic drugs for long‐term use were sodium bromide (four of four), followed by clorazepate (CLP; one of two), and nitrazepam (NZP; two of four). Sodium bromide was particularly effective for preventing status epilepticus. The mean age of last status epilepticus in patients receiving sodium bromide (1 year 8 months) was significantly younger than that in those not treated with sodium bromide (3 year 4 months).Conclusions:We identified that, in most patients of Wolf‐Hirschhorn syndrome, the frequency of both seizures and status epilepticus decreased gradually after age 5 years. However, during infancy, status epilepticus sometimes resulted in permanent disability or even death. We propose that sodium bromide should be used as the initial treatment for the prevention of the development of status epilepticus associated with Wolf‐Hirschhorn syndrome.
Sleep Architecture in Children with Idiopathic Generalized Epilepsy
Authors: Maganti Rama , Sheth Raj D. , Hermann Bruce P. , Weber Steven , Gidal Barry E. , Fine Jason 
Published: January 2005

Summary:  Purpose: Children with epilepsy experience sleep disturbances, behavioral and attentional problems at higher rates than their peers. However, the relation between sleep disturbances and the observed behavioral and attentional abnormalities is poorly defined. Methods: Children with primary generalized epilepsy who were seizure free and between the ages of 5 and 18 years were matched with age‐ and gender‐matched healthy controls and underwent two consecutive nights of nocturnal polysomnography with extended electroencephalography. Connor's Continuous Performance Test (CPT) was administered to assess daytime attentional function. Parents completed the Child Behavior Checklist (CBCL) to assess their emotional‐behavioral status. Two sample t tests were used to examine group differences. Spearman correlations were used to examine the relation between sleep variables and behavior and attention variables. Multiple regression analysis was used to identify independent predictors of abnormal behavior and attention among patients. Results: Eleven children with primary generalized epilepsy and eight age‐ and sex‐matched controls participated in the study. Children with epilepsy had longer stage 1 sleep percentage (7.19 ± 3.2 vs. 4.8 ± 3.5; p = 0.05) and latency to rapid‐eye‐movement (REM) sleep (123.5 ± 40.1 vs. 101.75 ± 24.3; p = 0.018) compared with controls. Children with epilepsy had worse attention (CPT index, 10.94 ± 6.55 vs. 3.42 ± 4.04; p = 0.004) and exhibited significantly higher CBCL Total Behavior and Internalizing Behavior Problem scales. Whereas regression analysis showed no independent predictors of abnormal behavior and attention, a tendency toward association between CBCL total behavior scale and REM percentage (r= 0.55; p = 0.07), and between CPT overall index and stage 1 sleep percentage (r= 0.40; p = 0.10) was noted. Conclusions: Sleep architecture is abnormal in children with primary generalized epilepsy. Further studies are needed to determine whether abnormalities in sleep architecture contribute to poor daytime behavior and attention.
Hyperventilation Revisited: Physiological Effects and Efficacy on Focal Seizure Activation in the Era of Video‐EEG Monitoring
Authors: Guaranha Mirian S. B. , Garzon Eliana , Buchpiguel Carlos A. , Tazima Sérgio , Yacubian Elza M. T. , Sakamoto Américo C. 
Published: January 2005

Summary:  Purpose: Hyperventilation is an activation method that provokes physiological slowing of brain rhythms, interictal discharges, and seizures, especially in generalized idiopathic epilepsies. In this study we assessed its effectiveness in inducing focal seizures during video‐EEG monitoring. Methods: We analyzed the effects of hyperventilation (HV) during video‐EEG monitoring (video‐EEG) of patients with medically intractable focal epilepsies. We excluded children younger than 10 years, mentally retarded patients, and individuals with frequent seizures. Results: We analyzed 97 patients; 24 had positive seizure activation (PSA), and 73 had negative seizure activation (NSA). No differences were found between groups regarding sex, age, age at epilepsy onset, duration of epilepsy, frequency of seizures, and etiology. Temporal lobe epilepsies were significantly more activated than frontal lobe epilepsies. Spontaneous and activated seizures did not differ in terms of their clinical characteristics, and the activation did not affect the performance of ictal single‐photon emission computed tomography (SPECT). Conclusions: HV is a safe and effective method of seizure activation during monitoring. It does not modify any of the characteristics of the seizures and allows the obtaining of valuable ictal SPECTs. This observation is clinically relevant and suggests the effectiveness and the potential of HV in shortening the presurgical evaluation, especially of temporal lobe epilepsy patients, consequently reducing its costs and increasing the number of candidates for epilepsy surgery.
Prevalence, Incidence, and Etiology of Epilepsies in Rural Honduras: The Salamá Study
Authors: Medina Marco T. , Durón Reyna M. , Martínez Lisandro , Osorio Juan Ramón , Estrada Ana L. , Zúniga Concepción , Cartagena Dora , Collins Julianne S. , Holden Kenton R. 
Published: January 2005

Summary: Purpose:Determination of epilepsy etiology in population‐based studies is difficult because of the high cost of diagnostic tests. However, cost‐effectiveness may be proven if preventive public‐health strategies can be established from the test results. We report an epilepsy population‐based study using clinical and laboratory techniques.Methods:A medical team administered an epilepsy survey to 88% of the residents by census in the rural county of Salamá, Honduras. Ninety of 100 participants identified with active epilepsy underwent a neurologic examination, video‐electroencephalography (video‐EEG), brain computed tomography (CT) scan, and serum enzyme‐linked immunoelectrotransfer blot (EITB) for cysticercosis. Final diagnoses were based on the International League Against Epilepsy classifications for seizures and epilepsy syndromes. Combined epidemiologic, clinical, video‐EEG, neuroimaging, and serum EITB assays were used for the diagnosis of epilepsy etiologies.Results:Among 6,473 residents surveyed, 151 persons with epilepsy (prevalence rate, 23.3/1,000) were identified, 100 of whom had active epilepsy (15.4/1,000) on the prevalence day. Incidence was determined to be 92.7/100,000. Partial seizures with or without secondary generalization were common (92.2%). Symptomatic epilepsy (62%) was primarily due to neurocysticercosis (37%), perinatal brain damage (8%), post‐traumatic (3%), and poststroke (2%). Eight percent were idiopathic, and 30% were cryptogenic (unknown cause).Conclusions:Symptomatic epilepsies primarily explained the high prevalence and incidence of epilepsy in Salamá. Integration of video‐EEG and brain CT scan with clinical‐epidemiologic evaluation was critical for determination of epilepsy etiology. Establishment of specific programs for continuation of epidemiologic surveillance, education, intervention, and long‐term follow‐up will benefit the Salamá region.
Dose‐dependent Safety and Efficacy of Zonisamide: A Randomized, Double‐blind, Placebo‐controlled Study in Patients with Refractory Partial Seizures
Authors: Brodie Martin J. , Duncan Roderick , Vespignani Herve , Solyom Andras , Bitenskyy Valeriy , Lucas Cherry 
Published: January 2005

Summary:  Purpose: To evaluate the safety and efficacy of zonisamide (ZNS) as adjunctive treatment in patients with refractory localization‐related epilepsy. Methods: This was a double‐blind, placebo‐controlled study of adjunctive ZNS in 351 patients with refractory partial seizures receiving a stable regimen of one to three antiepileptic drugs (AEDs). Patients were randomized to placebo or ZNS, 100 mg, 300 mg, or 500 mg/day (2:1:1:2) after a 12‐week baseline. Dose titration was undertaken over a 6‐week titration phase, which was followed by an 18‐week fixed‐dose assessment phase. Primary efficacy parameters were the differences between ZNS, 500 mg/day, and placebo in the change from baseline in frequency of complex partial (CP) seizures during the fixed‐dose assessment phase and in the proportion of CP responders (≥50% decrease from baseline in seizure frequency). Safety and tolerability also were assessed. Results: Compared with placebo, the highest dose of ZNS (500 mg/day) resulted in a significantly greater decrease in CP seizure frequency from baseline (51.2% vs. 16.3%; p < 0.0001) and a significantly higher proportion of CP responders (52.3% vs. 21.3%; p < 0.001). Both ZNS, 500 mg/day, and 300 mg/day were statistically superior to placebo in reducing the frequency of “all seizures” and simple partial (SP) + CP seizures. For all seizures, a significant dose–response relation was observed (p < 0.0001).The most common adverse events were somnolence, headache, dizziness, and nausea during the titration phase and headache and pharyngitis during the fixed‐dose assessment phase. Conclusions: ZNS provides dose‐dependent, effective, and generally well‐tolerated adjunctive therapy in patients with partial seizures.
Quality of Life of People with Epilepsy in Iran, the Gulf, and Near East
Authors: Baker Gus A. , Jacoby Ann , Gorry Joanne , Doughty Julie , Ellina Veronica ,   SIGN Group
Published: January 2005

Summary:  Purpose: To study the impact of epilepsy and its treatment on the quality of life of people living in Iran and in countries in the Gulf and Near East. Methods: Clinical, demographic, and psychosocial details were collected through the use of a self‐completed questionnaire distributed to patients attending hospital outpatient clinics. Results: Data were collected from 3,889 people with epilepsy from 10 countries. More than 40% of all respondents had frequent seizures, and reported levels of side effects from medication were high, the most commonly reported being nervousness, headaches, and tiredness. A significant number of respondents reported changing their medications because of side effects or poor seizure control. Respondents reported that epilepsy and its treatment had a significant impact on a number of different aspects of their daily lives. A significant number of respondents felt stigmatized by their epilepsy. Reported health status was reduced when compared with that of people without epilepsy, particularly for physical and social functioning and energy and vitality, as assessed by using a generic health status measure, the SF‐36. Conclusions: This is the largest study to date documenting the impact of epilepsy and its treatment in Iran, the Gulf, and Near East regions. Differences were found between the quality‐of‐life profiles of respondents in this study and those who participated in an earlier parallel study in Europe.
Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a NewLGI1Mutation
Authors: Pisano Tiziana , Marini Carla , Brovedani Paola , Brizzolara Daniela , Pruna Dario , Mei Davide , Moro Francesca , Cianchetti Carlo , Guerrini Renzo 
Published: January 2005

Summary: Purpose:Autosomal dominant lateral temporal lobe epilepsy (ADLTLE) is a rare familial epilepsy with onset in adolescence or early adulthood, associated with mutations ofLGI1in most families. We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family.Methods:A four‐generation family from Sardinia was studied. Clinical, neuropsychological, and genetic analysis were performed in eight living affected family members.Results:Nine family members had seizures over four generations; four of them had auditory auras and aphasia followed by secondarily generalized tonic–clonic seizures (SGTCs). One individual in addition had visual symptoms, and one family member had only vertigo followed by SGTCs. The side of seizure onset could not be determined in these five patients with focal seizures. The proband had febrile and afebrile tonic–clonic seizures. Two family members had only febrile seizures. Inheritance was autosomal dominant with 59% penetrance. Genetic molecular analysis showed a newLGI1missense mutation causing a Leu154Pro substitution in six affected and one unaffected individuals. Dichotic listening performance was abnormal in four affected individuals compared with controls. Fluency and lexical abilities also were pathological in three patients. These findings showed that in patients, the left temporal lobe was less specialized in the auditory processing function than in controls.Conclusions:In this ADLTLE family, both seizure semiology and neuropsychological findings point to a lateral temporal lobe dysfunction. The newly identifiedLGI1mutation might underlie both the seizure disorder and the neuropsychological deficits.
Cortical Resection with Electrocorticography for Intractable Porencephaly‐related Partial Epilepsy
Authors: Iida Koji , Otsubo Hiroshi , Arita Kazunori , Andermann Frederick , Olivier Andre 
Published: January 2005

Summary:  Purpose: We evaluated the results of cortical resection of epileptogenic tissue for treatment of intractable porencephaly‐related epilepsy. Methods: We examined clinical features, electrophysiological data, surgical findings, and seizure outcomes after cortical resection in eight patients with intractable epilepsy related to porencephalic cysts. Results: All eight patients had hemiparesis. Five retained motor function in the hemiparetic extremities; six retained visual fields. All had partial seizures, six with secondary generalization. Seven patients had simple and three had complex partial seizures (CPSs); two also had drop attacks. Four patients had multiple seizure types. Long‐term scalp video‐EEG (LVEEG) localized interictal epileptic abnormalities that anatomically corresponded to the cyst location in three patients. LVEEG recorded ictal‐onset zones in five; these anatomically corresponded to the cyst location in three of the five. EEG recorded generalized seizures in two patients, hemispheric in one, and multifocal in two. Intraoperative electrocorticography (ECoG) revealed interictal epileptic areas extending beyond the margins of the cyst in seven patients. We resected ECoG‐localized interictal epileptic areas completely in five patients and partially in two. Cortical resection was based on seizure semiology and LVEEG in one patient whose ECoG showed no epileptiform discharges. After a minimum follow‐up of 1 year, six patients had excellent seizure outcome (Engel class I), and two had a >90% seizure reduction (Engel class III) without complications. Conclusions: Cortical resection guided by ECoG allows preservation of motor function and visual field and provides an effective surgical procedure for treatment of intractable epilepsy secondary to porencephaly.
Seizure Clustering: Risks and Outcomes
Authors: Haut Sheryl R. , Shinnar Shlomo , Moshé Solomon L. 
Published: January 2005

Summary:  Purpose: Patients with epilepsy often experience seizures in clusters. In this preliminary study, we examined the prevalence of self‐reported clustering and identified potential risk factors and outcomes associated with reported clustering for further analysis in an ongoing prospective diary study. Methods: Detailed intake questionnaires were administered. Subjects reporting their typical seizure pattern to be three or more seizures within a 24‐h period were classified as clusterers. Magnetic resonance imaging (MRI) and EEG data were obtained, and epilepsy was classified by International League Against Epilepsy (ILAE) criteria. All subjects completed Beck Anxiety and Depression Inventories, and Quality of Life in Epilepsy testing. Results: Overall, 29% of subjects reported typical seizure clustering. Extratemporal lobe epilepsy [p = 0.02; OR, 3.0 (1.1–7.8)] was significantly associated with reported seizure clustering. Remote symptomatic epilepsy was associated with clustering [p = 0.03; OR, 2.3 (1.1–4.3)], particularly in association with a history of head trauma with loss of consciousness before epilepsy onset [p = 0.003; OR, 4.2 (1.6–11.1)], although this analysis was limited. Reported clustering was significantly associated with a history of convulsive status epilepticus (SE) [p = 0.029; OR, 3.0 (1.1–8.3)], other seizure‐related hospitalization [p = 0.006; OR, 5.3 (1.5–17.6)], and worse seizure control (p = 0.004). Quality‐of‐life measures were not significantly associated with reported clustering. Conclusions: These preliminary results identify extratemporal epilepsy and possibly head trauma as potential risk factors for reported seizure clustering and indicate a significant association between reported clustering and convulsive SE. Additionally, seizure clustering appears to be a marker for more intractable epilepsy. The ongoing diary study will refine the definition of seizure clustering and further evaluate specific predictors of poor and favorable outcomes of clustering.
Evidence for a Role of the Parafascicular Nucleus of the Thalamus in the Control of Epileptic Seizures by the Superior Colliculus
Authors: Nail‐Boucherie Karine , Lê‐Pham Bich‐Thuy , Gobaille Serge , Maitre Michel , Aunis Dominique , Depaulis Antoine 
Published: January 2005

Summary:  Purpose: The aim of this study was to investigate whether the nucleus parafascicularis (Pf) of the thalamus could be a relay of the control of epileptic seizures by the superior colliculus (SC). The Pf is one of the main ascending projections of the SC, the disinhibition of which has been shown to suppress seizures in different animal models and has been proposed as the main relay of the nigral control of epilepsy. Methods: Rats with genetic absence seizures (generalized absence epilepsy rat from Strasbourg or GAERS) were used in this study. The effect of bilateral microinjection of picrotoxin, a γ‐aminobutyric acid (GABA) antagonist, in the SC on the glutamate and GABA extracellular concentration within the Pf was first investigated by using microdialysis. In a second experiment, the effect of direct activation of Pf neurons on the occurrence of absence seizures was examined with microinjection of low doses of kainate, a glutamate agonist. Results: Bilateral injection of picrotoxin (33 pmol/side) in the SC suppressed spike‐and‐wave discharges for 20 min. This treatment resulted in an increase of glutamate but not GABA levels in the Pf during the same time course. Bilateral injection of kainate (35 pmol/side) into the Pf significantly suppressed spike‐and‐wave discharges for 20 min, whereas such injections were without effects when at least one site was located outside the Pf. Conclusions: These data suggest that glutamatergic projections to the Pf could be involved in the control of seizures by the SC. Disinhibition of these neurons could lead to seizure suppression and may be involved in the nigral control of epilepsy.
Anticonvulsant Activity of Ginseng on Seizures Induced by Chemical Convulsants
Authors: Lian Xiao‐Yuan , Zhang Zhi‐Zhen , Stringer Janet L. 
Published: January 2005

Summary:  Purpose: To test the anticonvulsant activity of three preparations of American ginseng: whole root extract, whole leaves/stems extract, and a partially purified extract that concentrates the Rb ginsenosides (Rb extract). Methods: One hour after treatment with normal saline, or one of the three ginseng preparations, seizures were induced in adult, male, Sprague–Dawley rats with kainic acid (KA; 10 mg/kg), pilocarpine (300 mg/kg, preceded by methylscopolamine, 1 mg/kg, s.c.), or pentylenetetrazol (PTZ, 50 mg/kg). Time to onset of seizure activity, duration of seizure activity for PTZ, seizure severity, and weight change for KA and pilocarpine were determined for each animal. The brains from animals who had received KA or pilocarpine were examined for severe neuronal stress, by using immunoreactivity for heat‐shock protein (HSP)72. Results: The Rb extract had a dose‐dependent anticonvulsant effect in all three models of chemically induced seizures: increasing the latency to the seizures; decreasing the seizure score, weight loss, and subsequent neuronal damage after pilocarpine; and shortening the seizure duration and reducing mortality after PTZ. The Rb extract also significantly reduced the effects of KA, including completely blocking behavioral seizures. The root preparation increased the mortality rate after administration of pilocarpine, but had no other significant effects. The leaves/stems preparation, at 120 mg/kg, reduced the weight loss after pilocarpine, but had no other significant effects. Conclusions: Ginseng extract made from either the root or leaves/stems is ineffective against chemically induced seizures. A partial purification of the whole extract that concentrates the Rb1 and Rb3 ginsenosides has significant anticonvulsant properties.