Ana Filipa Lopes; José Paulo Monteiro; Maria José Fonseca; Conceição Robalo; Mário Rodrigues Simões
Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE), childhood absence epilepsy (CAE), and benign epilepsy with centrotemporal ...
J Gordon Millichap
The case of a 6-year-old girl with typical absence epilepsy associated with moyamoya disease (MMD) is reported from the Department of Neurosurgery, Kyoto University Graduate School of Medicine, Japan.
Petersen, Katrine N. H.; Nielsen, Trine N.; Kjær, Troels W.;
Dynamics of the spike-wave paroxysms in Childhood Absence Epilepsy (CAE) are automatically characterized using novel approaches. Features are extracted from scalograms formed by Continuous Wavelet Transform (CWT). Detection algorithms are designed to identify an estimate of the temporal development...
Ana Filipa Lopes
Full Text Available Specific cognitive deficits have been identified in children with epilepsy irrespective of results on intelligence tests. Memory deficits are traditionally attributed to temporal lobe epilepsy, whereas the impact of frontal lobe epilepsy on memory functions has remained controversial. The aim of this study was the examination of memory abilities in other childhood common epilepsy syndromes (frontal lobe epilepsy (FLE, childhood absence epilepsy (CAE, and benign epilepsy with centrotemporal spikes (BECTS and the influence of epilepsy-related variables. Memory was examined in 90 children with epilepsy (each epilepsy group consisted of 30 children, aged 6–15, and compared with 30 control children. Children with FLE showed significant deficits in verbal and visual memory. In addition, type of epilepsy, earlier age at epilepsy onset, and longer active duration of epilepsy were associated with memory problems. Seizure frequency and treatment, however, did not influence memory performance. This study indicates that children with FLE show greater risk of developing memory deficits than children with CAE or BECTS, thus highlighting the importance of assessing also memory functions in frontal lobe epilepsy.
J Gordon Millichap
Using a blood oxygen level-dependent resting functional connectivity approach to analyze EEG-fMRI data, the properties of bihemispheric brain networks in 16 patients with childhood absence epilepsy (CAE) were investigated during the interictal period, in a study at Yale University School of Medicine, New Haven, CT.
Gürol, Gönül; Demiralp, Duygu Özel; Yılmaz, Ayça Kasapoğlu; Akman, Özlem; Ateş, Nurbay; Karson, Ayşe
The aim of this study was to investigate cellular proteins in the pathogenesis of the genetic rat model of absence epilepsy. Protein spots were identified with peptide mass fingerprinting analysis using matrix-assisted laser desorption ionization time of flight mass spectrometry. Data were gathered from the frontoparietal cortex and thalamus of Wistar Albino Glaxo/Rij (WAG/Rij) and Wistar by using two-dimensional gel electrophoresis (2D-PAGE). Six proteins (Clathrin light chain-A protein, Tra...
Gürol, Gönül; Demiralp, Duygu Özel; Yılmaz, Ayça Kasapoğlu; Akman, Özlem; Ateş, Nurbay; Karson, Ayşe
The aim of this study was to investigate cellular proteins in the pathogenesis of the genetic rat model of absence epilepsy. Protein spots were identified with peptide mass fingerprinting analysis using matrix-assisted laser desorption ionization time of flight mass spectrometry. Data were gathered from the frontoparietal cortex and thalamus of Wistar Albino Glaxo/Rij (WAG/Rij) and Wistar by using two-dimensional gel electrophoresis (2D-PAGE). Six proteins (Clathrin light chain-A protein, Transmembrane EMP24 Domain-Containing Protein, Stathmin-4, Myosin Light Chain4, Rheb, phosphoserine phosphatase) were found to be differentially expressed in the frontoparietal cortex of WAG/Rij and Wistar rats in both age groups. Another set of six proteins (Protein FAM89A and Oasl1, Gemin2, NuDEL1, Pur-beta, 3-alpha HSD) were found to be differentially expressed in the thalamus of WAG/Rij and Wistar rats. Findings from the frontoparietal cortex suggest the presence of altered serine metabolism and increased vesicular trafficking in the frontoparietal cortex of WAG/Rij rats compared with Wistar rats. These differences in the protein levels might reflect the crucial role of these proteins and related pathways in the generation of absence seizures. In the thalamic specimens, age-dependent changes in protein expression were remarkable, suggesting that this phenomenon may be a precursor or a consequence of absence seizures. Our findings further highlight the potential role of the mTOR signaling pathway in absence epilepsy. PMID:25323782
J Gordon Millichap; Millichap, John J.
Investigators from the Epilepsy Center, Lurie Children's Hospital of Chicago, and Yale School of Medicine, New Haven, CT, examined the possible association between long-term seizure outcome of childhood absence epilepsy (CAE) and the initial treatment with ethosuximide (ESM) or valproic acid (VPA).
GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.
Clemens, Zsófia; Kelemen, Anna; Fogarasi, András; Tóth, Csaba
Introduction Childhood absence epilepsy is an epilepsy syndrome responding relatively well to the ketogenic diet with one-third of patients becoming seizure-free. Less restrictive variants of the classical ketogenic diet, however, have been shown to confer similar benefits. Beneficial effects of high fat, low-carbohydrate diets are often explained in evolutionary terms. However, the paleolithic diet itself which advocates a return to the human evolutionary diet has not yet been studied in epi...
... for treating CAE. e138 © 2013 American Academy of Neurology ª"NFSJDBO "DBEFNZ PG /FVSPMPHZ 6OBVUIPSJ[FE SFQSPEVDUJPO ... medication impact on attention in childhood absence epilepsy. Neurology 2013;81:1572 – 1580. 2. Glauser TA, Cnaan ...
Chioza, Barry A; Aicardi, Jean; Aschauer, Harald;
and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using...... MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1....
Full Text Available System epilepsy is an emerging concept interpreting major nonlesional epilepsies as epileptic dysfunctions of physiological systems. I extend here the concept of reflex epilepsy to epilepsies linked to input dependent physiological systems. Experimental and clinical reseach data were collected to create a coherent explanation of underlying pathomechanism in AE and NFLE. We propose that AE should be interpreted as epilepsy linked to the corticothalamic burst-firing mode of NREM sleep, released by evoked vigilance level oscillations characterized by reactive slow wave response. In the genetic variation of NFLE the ascending cholinergic arousal system plays an essential role being in strong relationship with a gain mutation of the nicotinic acethylcholin receptors, rendering the arousal system hyperexcitable. I try to provide a more unitary interpretation for the variable seizure manifestation integrating them as different degree of pathological arosuals and alarm reactions. As a supporting hypothesis the similarity between arousal parasomnias and FNLE is shown, underpinned by overlaping pathomechanism and shared familiarity, but without epileptic features. Lastly we propose that both AE and NFLE are system epilepsies of the sleep-wake system representing epileptic disorders of the antagonistic sleep/arousal network. This interpretation may throw new light on the pathomechanism of AE and NFLE.
van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J.
While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex ...
Muhle, Hiltrud; Helbig, Ingo; Frøslev, Tobias Guldberg;
Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onse...... has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE....
Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob;
The first mutations identified in SLC2A1, encoding the glucose transporter type 1 (GLUT1) protein of the blood-brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy...... detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, ID, and/or various movement disorders. None of the 120 MAE patients harbored SLC2A1 mutations. We estimated the frequency of SLC2A1 mutations in the Danish population to be approximately 1...
Everett, Kate V; Chioza, Barry; Aicardi, Jean;
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes...
Everett, Kate V.; Chioza, Barry; Aicardi, Jean; Aschauer, Harald; Brouwer, Oebele; Callenbach, Petra; Covanis, Athanasios; Dulac, Olivier; Eeg-Olofsson, Orvar; Feucht, Martha; Friis, Mogens; Goutieres, Francoise; Guerrini, Renzo; Heils, Armin; Kjeldsen, Marianne; Lehesjoki, Anna-Elina; Makoff, Andrew; Nabbout, Rima; Olsson, Ingrid; Sander, Thomas; Siren, Auli; McKeigue, Paul; Robinson, Robert; Taske, Nichole; Rees, Michele; Gardiner, Mark
Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5 - 4 Hz spike - wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes invo
Introduction: Early onset absence epilepsy (EOAE) constitutes an idiopathic generalized epilepsy syndrome with typical absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter of the blood-brain barrier (GLUT-1), account for approximately 10% of EOAE...... cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed so far. Therefore, we aimed to compare the role of SLC2A1 mutations in EOAE and Childhood and Juvenile Absence Epilepsy (CAE, JAE). Method: 26 cases with EOAE and 40 probands with CAE or JAE were screened...... for SCL2A1 mutations by sequence analysis. Extensive phenotyping was performed in patients and family members. Results: Mutations in SLC2A1 were detected in 2/26 EOAE patients and 0/40 patients with familial absence epilepsy. One EOAE patient with a mild phenotype had a variant in exon 8 (c.1008G...
Rozendaal, Y.J.W.; Luijtelaar, E.L.J.M. van; Ossenblok, P.P.W.
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), wh
Fojtíková, D.; Brázdil, M.; Horký, Jaroslav; Mikl, M.; Kuba, R.; Krupa, P.; Rektor, I.
Roč. 7, 2/Suppl. B (2006), B30. ISSN 1335-9592. [International Danube Symposium for Neurological Sciences and Continuing Education /38./. 06.04.2006-08.04.2006, Brno] Institutional research plan: CEZ:AV0Z20650511 Keywords : typical absence epilepsy * idiopathic generalized epilepsy * proton magnetic resonance spectroscopy * thalamus Subject RIV: FS - Medical Facilities ; Equipment
Vierck, Esther; Cauley, Ryan; Kugler, Steven L.; Mandelbaum, David E; Pal, Deb K; Durner, Martina
About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike–wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. However, there is no firm evidence in support of this proposition. To test this assumption, we used survival analysis and compared the incidence of generalized tonic-clonic seizures in 115 patients with childhood absence epilepsy hav...
Sadleir, L.G.; Scheffer, I.E.; Smith, S.;
seizures were evaluated in 70 children with the following syndromes: childhood absence epilepsy (CAE) 37, CAE+ photoparoxysmal response (PPR) 10, juvenile absence epilepsy (JAE) 8, juvenile myoclonic epilepsy (JME) 6, and unclassified 9. Polyspikes occurred in all syndromes but were more common in JME....... They were brought out by drowsiness and sleep in fragments of generalized spike and wave (GSW). Polyspikes were more likely to occur during photic stimulation, but were not influenced by age independently. GSW was more likely to be disorganized in JME than JAE, and in JAE than CAE. Increasing age and...
Onat, F.Y.; Luijtelaar, E.L.J.M. van; Nehlig, A.; Snead, O.C.
Typical and atypical seizures of absence epilepsy are thought to be generated by a rhythmogenic interplay between the cortex and the thalamus. However, the question remains as to which other subcortical and extrathalamic structures are involved in the pathophysiology of typical and atypical absence
Idiopathic absence epilepsies (IAE), that have high prevalence particularly among children and adolescents, are complex disorders mainly caused by genetic factors. Childhood absence epilepsy and juvenile absence epilepsy are among the most common subtypes of IAEs. While the role of ion channels has been the primary focus of epilepsy research, the analysis of mutation and association in both patients with absence epilepsies and animal models revealed the involvement of GABA receptors and calcium channels, but also of novel non-ion channel proteins in inducing spike wave discharges (SWD). Functional studies on a mutated variant of these proteins also support their role in the epileptogenesis of absence seizures. Studies in animal models point to both the thalamus and cortex as the origin of SWDs: the abnormalities in the components of these circuits leading to seizure activity. This review examines the current research on mutations and susceptibility alleles determined in the genes that code for the subunits of GABA receptors (GABRG2, GABRA1, GABRB3, GABRA5, GABA(B1) and GABA(B2)), calcium channels (CACNA1A, CACNA1G, CACNA1H, CACNA1I, CACNAB4, CACNAG2 and CACNG3), and novel non-ion channel proteins, taking into account the results of functional studies on these variants. PMID:22206818
Zhou, Chengwen; Ding, Li; Deel, M. Elizabeth; Ferrick, Elizabeth A.; Emeson, Ronald B; Gallagher, Martin J.
We previously demonstrated that heterozygous deletion of Gabra1, the mouse homolog of the human absence epilepsy gene that encodes the GABAA receptor (GABAAR) α1 subunit, causes absence seizures. We showed that cortex partially compensates for this deletion by increasing the cell surface expression of residual α1 subunit and by increasing α3 subunit expression. Absence seizures also involve two thalamic nuclei: the ventrobasal (VB) nucleus, which expresses only the α1 and α4 subtypes of GABAA...
van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J
While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex differences in the prevalence or expression of atypical absence epilepsy syndromes. Surprisingly, most studies of animal models of absence epilepsy either did not investigate sex differences, or failed to find sex-dependent effects. However, various rodent models for atypical syndromes such as the AY9944 model (prepubertal females show a higher incidence than prepubertal males), BN model (also with a higher prevalence in males) and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved in sex differences. Although the mechanistic bases for the sex differences in humans or these three models are not yet known, studies of the effects of sex hormones on seizures have offered some possibilities. The sex hormones progesterone, estradiol and testosterone exert diametrically opposite effects in genetic absence epilepsy and pharmacologically-evoked convulsive types of epilepsy models. In addition, acute pharmacological effects of progesterone on absence seizures during proestrus are opposite to those seen during pregnancy. 17β-Estradiol has anti-absence seizure effects, but it is only active in atypical absence models. It is speculated that the pro-absence action of progesterone, and perhaps also the delayed pro-absence action of testosterone, are mediated through the neurosteroid allopregnanolone and its structural and functional homolog, androstanediol. These two steroids increase extrasynaptic thalamic tonic GABAergic
van Luijtelaar, Gilles; Onat, Filiz Yilmaz; Gallagher, Martin J.
While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes. In addition, although there are more females than males diagnosed with typical absence epilepsy syndromes, there is a paucity of studies on sex differences in seizure frequency and semiology in patients diagnosed with any absence epilepsy syndrome. Moreover, it is unknown if there are sex differences in the prevalence or expression of atypical absence epilepsy syndromes. Surprisingly, most studies of animal models of absence epilepsy either did not investigate sex differences, or failed to find sex-dependent effects. However, various rodent models for atypical syndromes such as the AY9944 model (prepubertal females show a higher incidence than prepubertal males), BN model also with a higher prevalence in males and the Gabra1 deletion mouse in the C57BL/6J strain offer unique possibilities for the investigation of the mechanisms involved in sex differences. Although the mechanistic bases for the sex differences in humans or these three models are not yet known, studies of the effects of sex hormones on seizures have offered some possibilities. The sex hormones progesterone, estradiol and testosterone exert diametrically opposite effects in genetic absence epilepsy and pharmacologically-evoked convulsive types of epilepsy models. In addition, acute pharmacological effects of progesterone on absence seizures during proestrus are opposite to those seen during pregnancy. 17β-Estradiol has anti-absence seizure effects, but it is only active in atypical absence models. It is speculated that the pro-absence action of progesterone, and perhaps also the delayed pro-absence action of testosterone, are mediated through the neurosteroid allopregnanolone and its structural and functional homolog, androstanediol. These two steroids increase extrasynaptic thalamic tonic GABAergic inhibition
Cheng, Wei; Tian, Ge; Feng, Jianfeng; Wang, Zhengge; Zhang, Zhiqiang; Lu, GuangMing
A brain wide association study (BWAS) based on the logistic regression was first developed and applied to a large population of epilepsy patients (168) and healthy controls (136). It was found that the most significant links associated with epilepsy are those bilateral links with regions mainly belonging to the default mode network and subcortex, such as amygdala, fusiform gyrus, inferior temporal gyrus, hippocampus, temporal pole, parahippocampal gyrus, insula, middle occipital gyrus, cuneus. These links were found to have much higher odd ratios than other links, and all of them showed reduced functional couplings in patients compared with controls. Interestingly, with the increasing of the seizure onset frequency or duration of illness, the functional connection between these bilateral regions became further reduced. On the other hand, as a functional compensation and brain plasticity, connections of these bilateral regions to other brain regions were abnormally enhanced and became even much stronger with t...
Duun-Henriksen, Jonas; Madsen, Rasmus E.; Remvig, Line S.;
Automatic detections of paroxysms in patients with childhood absence epilepsy have been neglected for several years. We acquire reliable detections using only a single-channel brainwave monitor, allowing for unobtrusive monitoring of antiepileptic drug effects. Ultimately we seek to obtain optimal...... long-term prognoses, balancing antiepileptic effects and side effects. The electroencephalographic appearance of paroxysms in childhood absence epilepsy is fairly homogeneous, making it feasible to develop patient-independent automatic detection. We implemented a state-of-the-art algorithm to...
Häusler, M; Kluger, G; Nikanorova, M
Epilepsy with myoclonic absences (EMA) is a rare epileptic syndrome with frequently poor response to antiepileptic treatment. Rufinamide (RUF) is a relatively new EMEA- and FDA-approved anticonvulsant licensed as an orphan drug for the adjunctive treatment of patients with Lennox-Gastaut syndrome....
Coenen, A.M.L.; Luijtelaar, E.L.J.M. van
Based on the reviewed literature and the data presented in this paper, conclusions can be drawn with respect to the validity of the WAG/Rij strain of rats as a model for absence epilepsy in humans. The view that the WAG/Rij model has "face validity" is supported by the simultaneous presence of clini
Tanaka, Miyabi; Olsen, Richard W.; Medina, Marco T.; Schwartz, Emily; Alonso, Maria Elisa; Duron, Reyna M.; Castro-Ortega, Ramon; Martinez-Juarez, Iris E.; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesus; Silva, Rene; Bailey, Julia N.; Bai, Dongsheng; Ochoa, Adriana; Jara-Prado, Aurelio
Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABAA receptor (GABAR) β3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Anot...
Karson Ayşe; Utkan Tijen; Balcı Fuat; Arıcıoğlu Feyza; Ateş Nurbay
RESEARCH Open Access Age-dependent decline in learning and memory performances of WAG/Rij rat model of absence epilepsy Ayşe Karson1*, Tijen Utkan2, Fuat Balcı3, Feyza Arıcıoğlu4 and Nurbay Ateş1 Abstract Recent clinical studies revealed emotional and cognitive impairments associated with absence epilepsy. Preclinical research with genetic models of absence epilepsy however have primarily focused on dysfunctional emotional processes and paid relatively less attention t...
Klitten, Laura L; Møller, Rikke S; Nikanorova, Marina;
Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EMA and intellectual disability who carries a de novo...... region without known protein-coding genes. Mutations of SYNGAP1 are associated with nonsyndromal intellectual disability (NSID). Two-thirds of the patients described so far also have generalized epilepsy. This finding, together with our report, suggests that dysfunction of SYNGAP1 contributes to the...... development of generalized epilepsy, including EMA....
Zhou, Chengwen; Ding, Li; Deel, M Elizabeth; Ferrick, Elizabeth A; Emeson, Ronald B; Gallagher, Martin J
We previously demonstrated that heterozygous deletion of Gabra1, the mouse homolog of the human absence epilepsy gene that encodes the GABAA receptor (GABAAR) α1 subunit, causes absence seizures. We showed that cortex partially compensates for this deletion by increasing the cell surface expression of residual α1 subunit and by increasing α3 subunit expression. Absence seizures also involve two thalamic nuclei: the ventrobasal (VB) nucleus, which expresses only the α1 and α4 subtypes of GABAAR α subunits, and the reticular (nRT) nucleus, which expresses only the α3 subunit subtype. Here, we found that, unlike cortex, VB exhibited significantly reduced total and synaptic α1 subunit expression. In addition, heterozygous α1 subunit deletion substantially reduced miniature inhibitory postsynaptic current (mIPSC) peak amplitudes and frequency in VB. However, there was no change in the expression of the extrasynaptic α4 or δ subunits in VB and, unlike other models of absence epilepsy, no change in tonic GABAAR currents. Although heterozygous α1 subunit knockout increased α3 subunit expression in medial thalamic nuclei, it did not alter α3 subunit expression in nRT. However, it did enlarge the presynaptic vesicular inhibitory amino acid transporter puncta and lengthen the time constant of mIPSC decay in nRT. We conclude that increased tonic GABAA currents are not necessary for absence seizures. In addition, heterozygous loss of α1 subunit disinhibits VB by substantially reducing phasic GABAergic currents and surprisingly, it also increases nRT inhibition by prolonging phasic currents. The increased inhibition in nRT likely represents a partial compensation that helps reduce absence seizures. PMID:25447232
Suntsova, N.; Kumar, S.; Guzman-Marin, R.; Alam, M. N.; Szymusiak, R.; McGinty, D.
Absence epilepsy (AE) in humans and the genetic AE model in WAG/Rij rats are both associated with abnormalities in sleep architecture that suggest insufficiency of the sleep-promoting mechanisms. In this study we compared the functionality of sleep-active neuronal groups within two well-established sleep-promoting sites, the ventrolateral and median preoptic nuclei (VLPO and MnPN, respectively), in WAG/Rij and control rats. Neuronal activity was assessed using c-Fos immunoreactivity and chron...
As surgical treatments for adult and pediatric forms of epilepsy have become more refined, methods for noninvasive localization of epileptogenic foci have become increasingly important. Detection of focal brain metabolic or flow abnormalities is now well recognized as an essential step in the presurgical evaluation of many patients with epilepsy. Positron emission tomography (PET) scanning is most beneficial when used in the context of the total clinical evaluation of patients, including scalp EEG, invasive EEG, neuropsychologic testing, etc. Metabolic PET studies also give insight into pathophysiologic mechanisms of epilepsy. The dynamic nature of the interictal hypometabolism observed with 18[F]FDG in some patients suggests that excitatory or inhibitory neurotransmitters and their receptors may be involved. An exciting current application of PET scanning is the use of tracers for neurotransmitter receptors in the study of epilepsy patients. Mu and non-mu opiate receptors have been extensively studied and are beginning to give new insights into this disorder. Increased labeling of mu receptors in temporal neocortex using 11C-carfentanil has been demonstrated and, in some patients, supplements the clinical localization information from 18[F]FDG studies. Increased mu opiate receptor number or affinity is thought to play a role in anticonvulsant mechanisms. Specificity of increased mu receptors is supported by the absence of significant changes in non-mu opiate receptors. Other brain receptors are also of interest for future studies, particularly those for excitatory neurotransmitters. Combined studies of flow, metabolism, and neuroreceptors may elucidate the factors responsible for initiation and termination of seizures, thus improving patient treatment.95 references
Edison Sanfelice André
Full Text Available Possible interactions between the sleep-wakefulness cycle and a new kind of spontaneous epilepsy, expressed as absence-like seizures and spike-wave bursts in FMUSP rats, are evaluated. The electro-oscillograms of some cortical and subcortical regions of the brain were recorded, as well as head, rostrum/vibrissae and eye movements. Recordings were performed uninterruptedly during 24 hours. The seizures were mostly concentrated in the wakefulness state but they could occur in any other phase, including paradoxical sleep. After the seizure, the rats usually returned to the same phase that was interrupted, although they often returned to wakefulness. There was an intense fragmentation of the sleep-wakefulness cycle. The incidence of each cycle phase was significantly reduced, except SIII of synchronized sleep and paradoxical sleep, thus maintaining the overall duration and architecture of the sleep-wakefulness cycle. The fragmentation of the cycle seems to be due to an impairment of the very processes that generate sleep and wakefulness. Electrophysiological and behavioral profiles of the FMUSP rats recommend accurate and comprehensive study of the animal model owing to its resemblance to seizures in humans and also to discrepancies with existing genetic or experimental epilepsy models.
Hramov, Alexander E.; Sitnikova, Evgenija Y.; Pavlov, Alexey N.; Grubov, Vadim V.; Koronovskii, Alexey A.; Khramova, Marina V.
Sleep spindles are known to appear spontaneously in the thalamocortical neuronal network of the brain during slow-wave sleep; pathological processes in the thalamocortical network may be the reason of the absence epilepsy. The aim of the present work is to study developed changes in the time-frequency structure of sleep spindles during the progressive development of the absence epilepsy in WAG/Rij rats. EEG recordings were made at age 7 and 9 months. Automatic recognition and subsequent analysis of sleep spindles on the EEG were performed using the continuous wavelet transform. The duration of epileptic discharges and the total duration of epileptic activity were found to increase with age, while the duration of sleep spindles, conversely, decreased. In terms of the mean frequency, sleep spindles could be divided into three classes: `slow' (mean frequency 9.3Hz), `medium' (11.4Hz), and `fast' (13.5Hz). Slow and medium (transitional) spindles in five-month-old animals showed increased frequency from the beginning to the end of the spindle. The more intense the epilepsy is, the shorter are the durations of spindles of all types. The mean frequencies of `medium' and `fast' spindles were higher in rats with more intense signs of epilepsy. Overall, high epileptic activity in WAG/Rij rats was linked with significant changes in spindles of the transitional type, with less marked changes in the two traditionally identified types of spindle, slow and fast.
Full Text Available Abstract Recent clinical studies revealed emotional and cognitive impairments associated with absence epilepsy. Preclinical research with genetic models of absence epilepsy however have primarily focused on dysfunctional emotional processes and paid relatively less attention to cognitive impairment. In order to bridge this gap, we investigated age-dependent changes in learning and memory performance, anxiety-like behavior, and locomotor activity of WAG/Rij rats (a valid model of generalized absence epilepsy using passive avoidance, Morris water maze, elevated plus maze, and locomotor activity cage. We tested 5 month-old and 13 month-old WAG/Rij rats and compared their performance to age-matched Wistar rats. Results revealed a decline in emotional and spatial memory of WAG/Rij rats compared to age-matched Wistar rats only at 13 months of age. Importantly, there were no significant differences between WAG/Rij and Wistar rats in terms of anxiety-like behavior and locomotor activity at either age. Results pointed at age-dependent learning and memory deficits in the WAG/Rij rat model of absence epilepsy.
Full Text Available Permutation entropy (PE has been widely exploited to measure the complexity of the electroencephalogram (EEG, especially when complexity is linked to diagnostic information embedded in the EEG. Recently, the authors proposed a spatial-temporal analysis of the EEG recordings of absence epilepsy patients based on PE. The goal here is to improve the ability of PE in discriminating interictal states from ictal states in absence seizure EEG. For this purpose, a parametrical definition of permutation entropy is introduced here in the field of epileptic EEG analysis: the permutation Rényi entropy (PEr. PEr has been extensively tested against PE by tuning the involved parameters (order, delay time and alpha. The achieved results demonstrate that PEr outperforms PE, as there is a statistically-significant, wider gap between the PEr levels during the interictal states and PEr levels observed in the ictal states compared to PE. PEr also outperformed PE as the input to a classifier aimed at discriminating interictal from ictal states.
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters ... may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, ...
Full Text Available Functional connectivity has been correlated with a patient’s level of consciousness and has been found to be altered in several neuropsychiatric disorders. Absence epilepsy patients, who experience a loss of consciousness, are assumed to suffer from alterations in thalamocortical networks; however, previous studies have not explored the changes at a functional module level. We used resting-state functional magnetic resonance imaging to examine the alteration in functional connectivity that occurs in absence epilepsy patients. By parcellating the brain into 90 brain regions/nodes, we uncovered an altered functional connectivity within and between functional modules. Some brain regions had a greater number of altered connections and therefore behaved as key nodes in the changed network pattern; these regions included the superior frontal gyrus, the amygdala, and the putamen. In particular, the superior frontal gyrus demonstrated both an increased value of connections with other nodes of the frontal default mode network and a decreased value of connections with the limbic system. This divergence is positively correlated with epilepsy duration. These findings provide a new perspective and shed light on how functional connectivity and the balance of within/between module connections may contribute to both the state of consciousness and the development of absence epilepsy.
Tanaka, Miyabi; Olsen, Richard W; Medina, Marco T; Schwartz, Emily; Alonso, Maria Elisa; Duron, Reyna M; Castro-Ortega, Ramon; Martinez-Juarez, Iris E; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesus; Silva, Rene; Bailey, Julia N; Bai, Dongsheng; Ochoa, Adriana; Jara-Prado, Aurelio; Pineda, Gregorio; Macdonald, Robert L; Delgado-Escueta, Antonio V
Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. Another heterozygous missense mutation (S15F) was present in a singleton from Honduras. An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family. All mutations were absent in 630 controls. We studied functions and possible pathogenicity by expressing mutations in HeLa cells with the use of Western blots and an in vitro translation and translocation system. Expression levels did not differ from those of controls, but all mutations showed hyperglycosylation in the in vitro translation and translocation system with canine microsomes. Functional analysis of human GABA(A) receptors (alpha 1 beta 3-v2 gamma 2S, alpha 1 beta 3-v2[P11S]gamma 2S, alpha 1 beta 3-v2[S15F]gamma 2S, and alpha 1 beta 3-v2[G32R]gamma 2S) transiently expressed in HEK293T cells with the use of rapid agonist application showed that each amino acid transversion in the beta 3-v2 subunit (P11S, S15F, and G32R) reduced GABA-evoked current density from whole cells. Mutated beta 3 subunit protein could thus cause absence seizures through a gain in glycosylation of mutated exon 1a and exon 2, affecting maturation and trafficking of GABAR from endoplasmic reticulum to cell surface and resulting in reduced GABA-evoked currents. PMID:18514161
Sabers, Anne; Kjær, Troels W
Epilepsy affects around 33,000 people in Denmark. The classification of the epilepsies is currently under revision and the clinical course of the disease depends on the underlying aetiology. Diagnostic evaluation includes EEG and often long-term video-EEG monitoring to ensure the diagnosis and clas......-sification. More than two thirds of patients with epilepsy can obtain complete seizure control. The remainders, counting around 12.000 patients in Denmark, having medical refractory epilepsy should be considered for other treatment options; epilepsy surgery or other non-pharmacological treatment....
Sarkisova, Karine; van Luijtelaar, Gilles
A great number of clinical observations show a relationship between epilepsy and depression. Idiopathic generalized epilepsy, including absence epilepsy, has a genetic basis. The review provides evidence that WAG/Rij rats can be regarded as a valid genetic animal model of absence epilepsy with comorbidity of depression. WAG/Rij rats, originally developed as an animal model of human absence epilepsy, share many EEG and behavioral characteristics resembling absence epilepsy in humans, including the similarity of action of various antiepileptic drugs. Behavioral studies indicate that WAG/Rij rats exhibit depression-like symptoms: decreased investigative activity in the open field test, increased immobility in the forced swimming test, and decreased sucrose consumption and preference (anhedonia). In addition, WAG/Rij rats adopt passive strategies in stressful situations, express some cognitive disturbances (reduced long-term memory), helplessness, and submissiveness, inability to make choice and overcome obstacles, which are typical for depressed patients. Elevated anxiety is not a characteristic (specific) feature of WAG/Rij rats; it is a characteristic for only a sub-strain of WAG/Rij rats susceptible to audiogenic seizures. Interestingly, WAG/Rij rats display a hyper-response to amphetamine similar to anhedonic depressed patients. WAG/Rij rats are sensitive only to chronic, but not acute, antidepressant treatments, suggesting that WAG/Rij rats fulfill a criterion of predictive validity for a putative animal model of depression. However, more and different antidepressant drugs still await evaluation. Depression-like behavioral symptoms in WAG/Rij rats are evident at baseline conditions, not exclusively after stress. Experiments with foot-shock stress do not point towards higher stress sensitivity at both behavioral and hormonal levels. However, freezing behavior (coping deficits) and blunted response of 5HT in the frontal cortex to uncontrollable sound stress
Dixit, Abhijit; Suri, Mohnish
Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient. PMID:26864574
... which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social ... may enter trials of experimental drugs and surgical interventions. More about epilepsy research NIH Patient Recruitment for ...
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions ...
2008115 Effect of commonly used antiepileptic drugs on cognitive functions of rats with pentylenetetrazol-induced epilepsy. WANG Xiaopeng(王晓鹏), et al. Dept Neurol, 2nd Hosp, Hebei Med Univ, Shijiazhuang 050000. Shanghai Med J 2007;30(12):920-923. Objective To observe the effect of antiepileptic drugs on the cognitive functions of rats with induced epilepsy. Methods Seventy male SD rats in their puberty were randomized into 7 groups,
2008481 Application of amplitude of low-frequency fluctuation to the temporal lobe epilepsy with bilateral hippocampal sclerosis: an fMRI study. ZHANG Zhiqiang(张志强), et al.Dept Med Imaging, Clin Sch, Med Coll, Nanjing Univ, Nanjing 210002.Natl Med J China 2008;88(23):1594-1598. Objective To study the changes of amplitude of low-frequency fluctuation (ALFF) of the resting-fMRI in the mesial temporal lobe epilepsy (mTLE) with
2005267 Expression and their clinical significances of five multidrug resistance gene products in refractory epilepsy brain tissues. XIAO Zheng (肖争), et al. Dept Neurol,Lab, Affili Hosp, Chongqing Med Univ, Chongqing 400016, Chin J Neurol, 2004;37(6) 500-503. Objective: To investigate the expression and their clinical significances of five multidrug resistance gene products in human epileptogenic pathologies. Methods: 17 refractory epilepsy patients were divided into two groups: long course group (≥10 years) and short course group (<10 years). The expression
Midzyanovskaya, Inna Stanislavovna
The neuroanatomical substrates of absence seizures and convulsive seizures differ; absence seizures are generated in the cortico-thalamic loop, whereas the brain stem and limbic structures are involved in audiogenic convulsive seizures. In spite of this difference, the two seizure types share a major precipitating factor: emotional stress, although absence seizures are more likely to be provoked by stress than other types of epileptic seizures. This implies that mechanisms of stress vulnerabi...
A. Kapoor; J. Vijai; H. M. Ravishankar; P. Satishchandra; K. Radhakrishnan; A. Anand
An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To study if JME families from India exhibiting the AD mode of inheritance carry the Ala322Asp mutation, we examined 35 unrelated JME-affected individuals from such families for the Ala322Asp mutation in GABRA1. Ala322Asp mutation was not observed in any of these JME-affected individuals, suggesting that this mutation is unlikely to be a predominant mutation involved in causation of epilepsy. To evaluate the possibility of other mutation(s) in and around GABRA1 that may predispose to JME, we compared the allele frequencies at two marker loci, D5S2118 and D5S422, flanking GABRA1, in probands and 100 matched population controls. One of the allele frequencies at D5S422 shows a significant difference between the cases and controls (2 = 11.44, d.f. = 1, $P = 0.0007$), suggesting genetic association between JME and genes located in the proximity of the DNA marker.
To discuss the salient role of statistical memory effects in human brain functioning, we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic responses of magnetoencephalographic signals to a flickering stimulus of different color combinations from a group of control subjects, and compared them with those for a patient with photosensitive epilepsy. We have discovered that the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of signals in separate areas for a patient most likely identifies the regions where the protective mechanism against the occurrence of photosensitive epilepsy is located
Bok, Levinus A; Maurits, Natasha M; Willemsen, Michèl A; Jakobs, Cornelis; Teune, Laura K; Poll-The, Bwee Tien; de Coo, Irenaeus F; Toet, Mona C; Hagebeuk, Eveline E; Brouwer, Oebele F; van der Hoeven, Johannes H; Sival, Deborah A
PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine. PDE can be identified by increased urinary alpha-aminoadipic semialdehyde (α-AASA) concentrations and mutations in the ALDH7A1 (antiquitin) gene. Prompt recogn
Berdiev, R. K.; Chepurnov, S. A.; Veening, J. G.; Chepurnova, N. E.; van Luiftelaar, G.
The role of cholinergic nucleus basalis (of Meynert) and the reticular thalamic nucleus in mechanisms of the generation spontaneous spike-and-wave discharges (SWDs) was investigated in the WAG/Rij rat model of absence epilepsy. Selective lesions were affected by local unilateral intraparenchymal inf
吕建军; 张月华; 潘虹; 陈育才; 刘晓燕; 姜玉武; 包新华; 沈岩; 吴沪生; 许克铭; 吴希如
Background Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). CAE is considered to be a genetic disease, with a possible polygenic inheritance pattern. The genes responsible for CAE have not been identified yet. The object of this study was to investigate whether or not CAE is associated with the gene encoding the gamma-aminobutyric acid (GABA) type-A receptor subunits α5 (GABRA5) and β3 (GABRB3) in a Chinese population. Methods Five microsatellite DNA repeats, 69CA, 85CA, 155CA1, 155CA2, and A55CA1, adjoining chromosome 15q11-q13, were used as genetic markers. Both case-control study and transmission/disequilibrium tests (TDTs), as well as fluorescence-based semi-automated genotyping techniques, were used in 90 CAE patient-mother-father trios and 100 normal controls of Han ethnicity to conduct association analysis. Results The frequencies of allele 5 of 69CA, alleles 2 and 8 of 85CA, alleles 6 and 7 of 155CA1, allele 2 of 155CA2, and alleles 1 and 11 of A55CA1 were significantly higher in CAE patients than in normal controls. To prevent spurious associations arising from population admixture, we further conducted TDT tests in the 90 CAE trios. The results of TDT analysis further suggested that microsatellite DNA repeats 85CA, 155CA1, and 155CA2 were associated with CAE.Conclusions GABA type-A receptor subunit genes GABRA5 and GABRB3 may be either directly involved in the etiology of CAE in the Chinese population or in linkage disequilibrium with disease-predisposing sites.
McNamara, M E
While temporal lobe epilepsy is often considered in the differential diagnosis of patients with anxiety or panic disorders, other types of epilepsy can confound the presentation or treatment of adults with panic disorders. The cases of two patients are presented who were initially thought to have temporal lobe epilepsy producing panic attacks, but who were subsequently found to have primary generalized seizures. The clinical implications are discussed.
Yulmetyev, R M; Hänggi, P; Khusaenova, E V; Shimojo, S; Yulmetyeva, D G
o discuss the salient role of the statistical memory effects in the human brain functioning we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic brain responses to a flickering stimulus of different color combinations from a group of control subjects which is contrasted with those from a patient with photosensitive epilepsy (PSE). We have discovered the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of the signals in the separate areas for a patient with PSE. This finding most likely identifies the regions of the location the protective mechanism in a human organism against occurrence of PSE.
Yulmetyev, R. M.; Yulmetyeva, D. G.; Hänggi, P.; Shimojo, S.; Bhattacharya, J.
To discuss the salient role of the statistical memory effects in the human brain functioning we have analyzed a set of stochastic memory quantifiers that reflects the dynamical characteristics of neuromagnetic brain responses to a flickering stimulus of different color combinations from a group of control subjects which is contrasted with those from a patient with photosensitive epilepsy (PSE). We have discovered the emergence of strong memory and the accompanying transition to a regular and robust regime of chaotic behavior of the signals in the separate areas for a patient with PSE. This finding most likely identifies the regions of the location the protective mechanism in a human organism against occurrence of PSE.
Zeynep Aydin-Özemir; Pinar Tektürk; Zehra Oya Uyguner; Betül Baykan
Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkab...
Epilepsy is a kind of common neurological diseases in the world. Over 50% of epilepsies have genetic basis. We define "idiopathic epilepsy" as a kind of epilepsy or epilepsy syndrome only with genetic factors, and idiopathic generalized epilepsies (IGEs) is a major type of idiopathic epilepsies. Susceptibility genes of epilepsies are mainly ion channel genes. Both gene mutation and copy number variation lead to epilepsies. Childhood absence epilepsy (CAE) is a crucial part of IGEs. Due to the consistency of CAE' s phenotype and results of EEG, studies related to CAE susceptibility genes tend to be easier to conduct. Through these studies about IGEs /CAE susceptibility genes, we can determine pathogenic model of epilepsy genetics, and find the way to diagnose accurately in molecular genetics, to identify types of epilepsies, to detect targets of antiepileptic drugs, and provide a basis for gene therapy.
Wang, Yan; Chen, Elizabeth S; Leppik, Ilo; Pakhomov, Serguei; Sarkar, Indra Neil; Melton, Genevieve B
Epilepsy is a prevalent chronic neurological disorder afflicting about 50 million people worldwide. There is evidence of a strong relationship between familial risk factors and epilepsy, as well as associations with substance use. The goal of this study was to explore the interactions between familial risk factors and substance use based on structured data from the family and social history modules of an electronic health record system for adult epilepsy patients. A total of 8,957patients with 38,802 family history entries and 8,822 substance use entries were gathered and mined for associations at different levels of granularity for three age groupings (>18, 18-64, and ≥65 years old). Our results demonstrate the value of an association rule mining approach to validate knowledge of familial risk factors. The preliminary findings also suggest that substance use does not demonstrate significant association between social and familial risk factors for epilepsy. PMID:27570679
To determine the prognosis of seizures in epileptic children and identify early predictors of intractable childhood epilepsy. All children (aged 1 month to 16 years) with idiopathic or cryptogenic epilepsy who were treated and followed at the centre during the study period were included. The patients who had marked seizures even after two years of adequate treatment were labeled as intractable epileptics (cases). Children who had no seizure for more than one year at last follow-up visit were the controls. Adequate treatment was described as using at least three anti-epileptic agents either alone or in combination with proper compliance and dosage. Records of these patients were reviewed to identify the variables that may be associated with seizure intractability. Of 442 epileptic children, 325 (74%) intractable and 117 (26%) control epileptics were included in the study. Male gender (OR=3.92), seizures onset in infancy >10 seizures before starting treatment (OR=3.76), myoclonic seizures (OR=1.37), neonatal seizures (OR=3.69), abnormal EEG (OR=7.28) and cryptogenic epilepsy (OR=9.69) and head trauma (OR=4.07) were the factors associated with intractable epilepsy. Seizure onset between 5-7 years of age, idiopathic epilepsy, and absence seizures were associated with favourable prognosis in childhood epilepsy. Intractable childhood epilepsy is expected if certain risk factors such as type, age of onset, gender and cause of epilepsy are found. Early referral of such patients to the specialized centres is recommended for prompt and optimal management. (author)
Full Text Available Introduction. Juvenile myoclonic epilepsy is an idiopathic, hereditary form of epilepsy. Although juvenile myoclonic epilepsy is a well defined clinical syndrome, attempts at diagnosing it commonly fail. Etiopathogenesis. The exact cause of juvenile myoclonic epilepsy remains unknown. Clinical, morphological and metabolic data suggest a preferential role for frontal regions in this syndrome. Several major genes for juvenile myoclonic epilepsy have been identified, but these genes account for only a small proportions of juvenile myoclonic epilepsy cases, suggesting multifactorial or complex inheritance in most. Clinical Manifestations. Juvenile myoclonic epilepsy is characterized by the triad of myoclonic jerks on awakening (all patients, generalized tonic-clonic seizures (>90% of patients and typical absences (about one third of patients. Seizures have an age-related onset, circadian distribution and are frequently precipitated by sleep deprivation, fatigue and alcohol intake. Intelligence is normal. Diagnosis. Juvenile myoclonic epilepsy diagnosis is based upon clinical criteria and typical electroencephalographic findings (generalized pattern of spikes and/or polyspikes and waves. All other tests are normal. Treatment and Prognosis. Both medical treatment and counselling are important in the management of juvenile myoclonic epilepsy. Mono-therapy with valproate is the preferred treatment. Some of the newer antiepileptic drugs have been suggested as possible alternatives. Juvenile myoclonic epilepsy has a good prognosis. Lifelong treatment is usually considered necessary in vast majority of patients due to the increased risk of relapse if treatment is discontinued. Conclusion. Juvenile myoclonic epilepsy is a common, although under-diagnosed epileptic syndrome. The clinician should study the occurrence of myoclonic jerks and should consider atypical presentations.
Bi, Weimin; Glass, Ian A; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Yang, Yaping; Sun, Angela
Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE) is an ultra rare neurodevelopmental disorder characterized by severe, infantile-onset intractable epilepsy, neurocognitive delay, macrocephaly, and craniofacial dysmorphism. The molecular diagnosis of this condition has thus far only been made in 16 Old Order Mennonite patients carrying a homozygous 7 kb founder deletion of exons 9-13 of STRADA. We performed clinical whole exome sequencing (WES) on a 4-year-old Indian male with global developmental delay, history of failure to thrive, infantile spasms, repetitive behaviors, hypotonia, low muscle mass, marked joint laxity, and dysmorphic facial features including tall forehead, long face, arched eyebrows, small chin, wide mouth, and tented upper lip. A homozygous single nucleotide duplication, c.842dupA (p.D281fs), in exon 10 of STRADA was identified. Sanger sequencing confirmed the mutation in the individual and identified both parents as carriers. In light of the molecular discoveries, the patient's clinical phenotype was considered to be a good fit for PMSE. We identified for the first time a homozygous point mutation in STRADA causing PMSE. Additional bi-allelic mutations related to PMSE thus far have not been observed in Baylor ∼6,000 consecutive clinical WES cases, supporting the rarity of this disorder. Our findings may have treatment implications for the patient since previous studies have shown rapamycin as a potential therapeutic agent for the seizures and cognitive problems in PMSE patients. © 2016 Wiley Periodicals, Inc. PMID:27170158
Early molecular and behavioral response to lipopolysaccharide in the WAG/Rij rat model of absence epilepsy and depressive-like behavior, involves interplay between AMPK, AKT/mTOR pathways and neuroinflammatory cytokine release.
Russo, Emilio; Andreozzi, Francesco; Iuliano, Rodolfo; Dattilo, Vincenzo; Procopio, Teresa; Fiume, Giuseppe; Mimmi, Selena; Perrotti, Nicola; Citraro, Rita; Sesti, Giorgio; Constanti, Andrew; De Sarro, Giovambattista
The mammalian target of rapamycin (mTOR) pathway has been recently indicated as a suitable drug target for the prevention of epileptogenesis. The mTOR pathway is known for its involvement in the control of the immune system. Since neuroinflammation is recognized as a major contributor to epileptogenesis, we wished to examine whether the neuroprotective effects of mTOR modulation could involve a suppression of the neuroinflammatory process in epileptic brain. We have investigated the early molecular mechanisms involved in the effects of intracerebral administration of the lipopolysaccharide (LPS) in the WAG/Rij rat model of absence epilepsy, in relation to seizure generation and depressive-like behavior; we also tested whether the effects of LPS could be modulated by treatment with rapamycin (RAP), a specific mTOR inhibitor. We determined, in specific rat brain areas, levels of p-mTOR/p-p70S6K and also p-AKT/p-AMPK as downstream or upstream indicators of mTOR activity and tested the effects of LPS and RAP co-administration. Changes in the brain levels of pro-inflammatory cytokines IL-1β and TNF-α and their relative mRNA expression levels were measured, and the involvement of nuclear factor-κB (NF-κB) was also examined in vitro. We confirmed that RAP inhibits the aggravation of absence seizures and depressive-like/sickness behavior induced by LPS in the WAG/Rij rats through the activation of mTOR and show that this effect is correlated with the ability of RAP to dampen and delay LPS increases in neuroinflammatory cytokines IL-1β and TNF-α, most likely through inhibition of the activation of NF-κB. Our results suggest that such a mechanism could contribute to the antiseizure, antiepileptogenic and behavioral effects of RAP and further highlight the potential therapeutic usefulness of mTOR inhibition in the management of human epilepsy and other neurological disorders. Furthermore, we show that LPS-dependent neuroinflammatory effects are also mediated by a
The International League Against Epilepsy (ILAE) Subcommittee for Pediatric Neuroimaging examined the usefulness of, and indications for, neuroimaging in the evaluation of children with newly diagnosed epilepsy. The retrospective and prospective published series with n ≥ 30 utilizing computed tomography (CT) and magnetic resonance imaging (MRI) (1.5 T) that evaluated children with new-onset seizure(s) were reviewed. Nearly 50% of individual imaging studies in children with localization-related new-onset seizure(s) were reported to be abnormal; 15-20% of imaging studies provided useful information on etiology or and seizure focus, and 2-4% provided information that potentially altered immediate medical management. A significant imaging abnormality in the absence of a history of a localization-related seizure, abnormal neurologic examination, or focal electro-encephalography (EEG) is rare. Imaging studies in childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and benign childhood epilepsy with centro-temporal spikes (BECTS) do not identify significant structural abnormalities. Imaging provides important contributions to establishing etiology, providing prognostic information, and directing treatment in children with recently diagnosed epilepsy. Imaging is recommended when localization-related epilepsy is known or suspected, when the epilepsy classification is in doubt, or when an epilepsy syndrome with remote symptomatic cause is suspected. When available, MRI is preferred to CT because of its superior resolution, versatility, and lack of radiation. (authors)
Verhoeven, Willem MA; Egger, Jos IM; Knegt, Alida C; Zuydam, José; Kleefstra, Tjitske
Deletions of the 15q26 region encompassing the chromodomain helicase DNA binding domain 2 (CHD2) gene have been associated with intellectual disability, behavioral problems, and several types of epilepsy. Including the cases mentioned in ECARUCA (European cytogeneticists association register of unbalanced chromosome aberrations) and DECIPHER (database of genomic variation and phenotype in humans using ensembl resources), so far, a total of 13 intellectually disabled patients with a genetically proven deletion of the CHD2 gene are described, of whom eleven had a history of severe forms of epilepsy starting from a young age. In this article, a moderately intellectually disabled 15-year-old male with a 15q26.1–q26.2 interstitial deletion is reported, who was referred for analysis of two recent short-lasting psychotic episodes that were nonresponsive to antipsychotic treatment and recurrent disinhibited behaviors since early infancy. Careful interdisciplinary assessment revealed that the psychotic phenomena originated from a previously unrecognized absence epilepsy. Treatment with valproic acid was started which resulted in full remission of psychotic symptoms, and consequently, substantial improvement of behavior. It was concluded that in case of (rare) developmental disorders with genetically proven etiology, a detailed inventory of anamnestic data and description of symptomatology over time may elucidate epilepsy-related psychopathology for which a specific treatment regimen is needed.
Full Text Available The new direction of understand the signal that is created from the brain organization is one of the main chores in the brain signal processing. Amid all the neurological disorders the human brain epilepsy is measured as one of the extreme prevalent and then programmed artificial intelligence detection technique is an essential due to the crooked and unpredictable nature of happening of epileptic seizures. We proposed an Improved Fuzzy firefly algorithm, which would enhance the classification of the brain signal efficiently with minimum iteration. An important bunching technique created on fuzzy logic is the Fuzzy C means. Together in the feature domain with the spatial domain the features gained after multichannel EEG signals remained combined by means of fuzzy algorithms. And for better precision segmentation process the firefly algorithm is applied to optimize the Fuzzy C-means membership function. Simultaneously for the efficient clustering method the convergence criteria are set. On the whole the proposed technique yields more accurate results and that gives an edge over other techniques. This proposed algorithm result compared with other algorithms like fuzzy c means algorithm and PSO algorithm.
Clinical and electroencephalographic characteristics of a cohort of patients with epilepsy and absence seizures Características clínicas e eletrencefalográficas de uma coorte de pacientes com epilepsia com crises de ausência
Soniza Vieira Alves-Leon
Full Text Available BACKGROUND: Epileptic syndromes with absence seizures (AS possess unique clinical and electroencephalographic (EEG characteristics. In typical or atypical AS, ictal phenomenology may include various characteristics. Vídeo-EEG monitoring enables findings to be correlated with ictal phenomenology. OBJECTIVE: To evaluate the different AS in a cohort of patients with drug-resistant epilepsy (DRE based on the International League against Epilepsy (ILAE's 2006 classification, to correlate with ictal phenomenology recorded and to apply the Panayiotopoulos criteria. METHOD: This study included patients with criteria of AS followed up at the Epilepsy Clinic. A dual, cross-sectional cohort study was carried out between 2005 and 2008. Patients receiving care in the Epilepsy Program of the HUCFF-UFRJ, who had been investigated by video-EEG and who presented clinical and EEG criteria for absence seizures, typical or atypical, according to the criteria defined by the ILAE, were included in the study, independent of age onset, the review of clinical history, age onset, family history, epilepsy onset and evolution, seizures phenomenology, antiepileptic drugs response and neuroimaging studies were used to classify the patients among the different epileptic syndrome associated to absence seizures. RESULTS: Typical absences were more frequent (71.4% than atypical absences. Cases of juvenile absence epilepsy were the most frequent (19% in this series, followed by childhood absence epilepsy (14.4% and juvenile myoclonic epilepsy (4.8%. In 14 patients (66.67%, diagnosis was modified from focal epilepsy to primary generalized epilepsy. Clinical and EEG diagnosis of absence epilepsy resulted in a dramatic improvement in the control of seizures following modification of diagnosis and indication of an appropriate antiepileptic drug. CONCLUSION: Our results show that typical AS are more frequent than atypical. AS was successfully defined in 10 patients following
Cho, J.R.; Koo, D.L.; Joo, E.Y.; Seo, D.W.; Hong, S.-Ch.; Jiruška, Přemysl; Hong, S.B.
Roč. 55, č. 11 (2014), s. 1872-1883. ISSN 0013-9580 R&D Projects: GA MZd(CZ) NT14489 Institutional support: RVO:67985823 Keywords : epilepsy surgery * high-frequency oscillations * neocortical epilepsy Subject RIV: FH - Neurology Impact factor: 4.571, year: 2014
Laura M.F.F. Guilhoto
Full Text Available Occipital intermittent rhythmic delta activity (OIRDA is considered good prognostic factor in typical absences (TA. We report electroclinical evolution in 14 patients with TA and OIRDA, which performed video-EEG. Seven patients were female; 9 had childhood absence epilepsy and the others did not present electroclinical characteristics for syndromic classification according to ILAE's classification (1989. Pyknolepsy was referred to in 13; TA was the only seizure type in 13; one had generalized tonic-clonic seizures (GTCS and three had myoclonic jerks during TA. VPA monotherapy controlled seizures in 11, diVPA and ESM, in one each. After seizure control EEG normalized in 10 while in three, spike-wave complexes (SWC persisted, accompanied by OIRDA in one. Finally in another, seizures were not controlled and SWC and OIRDA persisted. In conclusion, we observed in this series of TA and OIRDA with onset before 10 years, pyknolepsy as common finding and few GTCS. VPA controlled seizures in most cases and EEG normalized in 76.92%. We suggest that OIRDA could be considered good prognostic factor in TA associated with SWC and of epileptiform nature leading to appropriate investigation.Atividade occipital delta rítmica intermitente (AODRI é considerada fator de bom prognóstico em crises de ausência típica (AT. Neste estudo relatamos a evolução eletroclínica de 14 pacientes com AT e AODRI que realizaram vídeo-EEG. Sete pacientes eram do sexo feminino; nove tinham epilepsia ausência da infância e os outros não apresentavam características eletroclínicas para classificação sindrômica de acordo com a classificação da ILAE (1989. Picnolepsia foi relatada em 13; AT foi o único tipo de crise em 13; um tinha crises generalizadas TCG e três, abalos mioclônicos durante AT. Monoterapia com VPA controlou as crises em 11, diVPA e ESM, em um cada. Após o controle das crises, o EEG normalizou em 10; em três, complexos de espícula-onda (CEO
Møller, Rikke Steensbjerre
BACKGROUND: The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes and...... insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for...
Full Text Available Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association.
Aydin-Özemir, Zeynep; Tektürk, Pınar; Uyguner, Zehra Oya; Baykan, Betül
Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association. PMID:25624930
K. Yu. Mukhin
Full Text Available Typical absences (TA are brief primary generalized epileptic seizures characterized by sudden onset and termination. According to their definition, absences consist of impairment of consciousness that is synchronously accompanied by electroencephalographic (EEG changes as generalized spike–slow wave discharges of 3 or more Hz. The authors conducted an investigation of 1261 patients with different forms of epilepsy with onset of seizures from the first days of life to the age of 18 years. The patients were followed up from 1990 to 2010. Absence seizures were detected in 231 patients, which accounts for 18.3 % of all the epileptic patients. TA were found in 102 patients, which constitutes 8.1 % of all cases of epilepsy with onset of seizures beyond the age of 18 years. The paper provides a detailed analysis of a group of patients with TA in terms of anamnestic, clinical, electroencephalographic, and neuroimaging features and the results of therapy with antiepileptic drugs (AEDs. The age of onset of TA-associated epilepsy was from 9 months to 17 years (mean 9.4 ± 4.06 years. The disease occurred most frequently in young school-age children (41.2 %. Isolated TA as the only type of seizures were observed in the clinical picture of 28 (27.5 % patients. TA were concurrent with other types of seizures in other cases. The investigators have identified 4 types of seizures which TA (generalized convulsions, myoclonic seizures, febrile seizures, and eyelid myoclonia may be concurrent with. Neuroimaging stated there were no brain changes in 85.3 % of TA-associated epilepsy cases. Moderate diffuse subatrophic changes were detected in other cases (14.7 %. Local cerebral structural abnormalities were absent. The use of antiepileptic therapy as both monotherapy and polytherapy using different combinations showed the high efficacy of AEDs. Complete remission was achieved in 84.3 % of TA-associated epilepsy cases. An AED-induced reduction in the frequency of
Shafer, Patricia Osborne; Buchhalter, Jeffrey
Patient education in epilepsy is one part of quality epilepsy care and is an evolving and growing field. Health outcomes, patient satisfaction, safety, patient/provider communication, and quality of life may all be affected by what people are taught (or not taught), what they understand, and how they use this information to make decisions and manage their health. Data regarding learning needs and interventions to address medication adherence and sudden unexpected death in epilepsy education can be used to guide clinicians in health care or community settings. PMID:27086989
D'Alimonte, Iolanda; D'Auro, Mariagrazia; Citraro, Rita; Biagioni, Francesca; Jiang, Shucui; Nargi, Eleonora; Buccella, Silvana; Di Iorio, Patrizia; Giuliani, Patricia; Ballerini, Patrizia; Caciagli, Francesco; Russo, Emilio; De Sarro, Giovambattista; Ciccarelli, Renata
The involvement of excitatory adenosine A(2A) receptors (A(2A)Rs), which probably contribute to the pathophysiology of convulsive seizures, has never been investigated in absence epilepsy. Here, we examined the distribution and function of A(2A)Rs in the brain of Wistar Albino Glaxo/Rijswijk (WAG/Rij) rats, a model of human absence epilepsy in which disease onset occurs 2-3 months after birth. In the cerebral areas that are mostly involved in the generation of absence seizures (somatosensory cortex, reticular and ventrobasal thalamic nuclei), A(2A)R density was lower in presymptomatic WAG/Rij rats than in control rats, as evaluated by immunohistochemistry and western blotting. Accordingly, in cortical/thalamic slices prepared from the brain of these rats, A(2A)R stimulation with the agonist 2-[4-(-2-carboxyethyl)-phenylamino]-5'-N-ethylcarboxamido-adenosine failed to modulate either cAMP formation, mitogen-activated protein kinase system, or K(+)-evoked glutamate release. In contrast, A(2A)R expression, signalling and function were significantly enhanced in brain slices from epileptic WAG/Rij rats as compared with matched control animals. Additionally, the in vivo injection of the A(2A)R agonist CGS21680, or the antagonist 5-amino-7-(2-phenylethyl)-2-(2-fuyl)-pyrazolo-(4,3-c)1,2,4-triazolo(1,5-c)-pyrimidine, in the examined brain areas of epileptic rats, increased and decreased, respectively, the number/duration of recorded spontaneous spike-wave discharges in a dose-dependent manner during a 1-5 h post-treatment period. Our results support the hypothesis that alteration of excitatory A(2A)R is involved in the pathogenesis of absence seizures and might represent a new interesting target for the therapeutic management of this disease. PMID:19723291
Full Text Available Epilepsy is one of the most common serious neurological conditions, and 30 to 40% of people with epilepsy have seizures that are not controlled by medication. Patients are considered to have refractory epilepsy if disabling seizures continue despite appropriate trials of two antiseizure drugs, either alone or in combination. At this point, patients should be referred to multidisciplinary epilepsy centers that perform specialized diagnostic testing to first determine whether they are, in fact, pharmacoresistant, and then, if so, offer alternative treatments. Apparent pharmacoresistance can result from a variety of situations, including noncompliance, seizures that are not epileptic, misdiagnosis of the seizure type or epilepsy syndrome, inappropriate use of medication, and lifestyle issues. For patients who are pharmacoresistant, surgical treatment offers the best opportunity for complete freedom from seizures. Surgically remediable epilepsy syndromes have been identified, but patients with more complicated epilepsy can also benefit from surgical treatment and require more specialized evaluation, including intracranial EEG monitoring. For patients who are not surgical candidates, or who are unwilling to consider surgery, a variety of other alternative treatments can be considered, including peripheral or central neurostimulation, ketogenic diet, and complementary and alternative approaches. When such alternative treatments are not appropriate or effective, quality of life can still be greatly improved by the psychological and social support services offered by multidisciplinary epilepsy centers. A major obstacle remains the fact that only a small proportion of patients with refractory epilepsy are referred for expert evaluation and treatment.
Ngomba, R.T.; Santolini, I.; Biagioni, F.; Molinaro, G.; Simonyi, A.; Rijn, C.M. van; D'Amore, V.; Mastroiacovo, F.; Olivieri, G.; Gradini, R.; Luijtelaar, E.L.J.M. van; Nicoletti, F.
Eight-month old WAG/Rij rats, which developed spontaneous occurring absence seizures, showed a reduced function of mGlu1 metabotropic glutamate receptors in the thalamus, as assessed by in vivo measurements of DHPG-stimulated polyphosphoinositide hydrolysis, in the presence of the mGlu5 antagonist M
Galizia, Elizabeth C.; Myers, Candace T.; Leu, Costin;
-represented in cases overall (P = 2.17 × 10(-5)). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3.50 × 10(-4)). CHD2 variation was not over-represented in photoparoxysmal...... response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with...
Epilepsy is a brain disorder in which a person has repeated seizures over time. Seizures are episodes ... Epilepsy occurs when permanent changes in the brain cause it to be too excitable or irritable. As ...
Mbewe, Edward K; Uys, Leana R; Nkwanyana, Ntombifikile M; Birbeck, Gretchen L
Among the 50 million people with epilepsy (PWE) worldwide, ~15 to 60% also likely suffer from depression and/or anxiety disorders, and 80% reside in low-income regions where these comorbidities are often underrecognized and undertreated. We developed a 10-item screening tool for the detection of depression and anxiety disorders for use in Zambian primary care clinics where the baseline detection rate of depression and/or anxiety disorders among PWE is ~1%. Consenting adults (n=595) completed the screening tool, and 53.7% screened positive. The screen was validated by a psychiatric clinical officer using DMS-IV criteria. Cronbach's alpha was 0.77 overall and 0.67 and 0.57 for the depression and anxiety components, respectively. Other test characteristics included sensitivity 56.6%, specificity 68.1%, positive predictive value 67.3%, and negative predictive value 57.5%. Interrater reliability (kappa) was 0.85. The psychometric qualities of the tool are inadequate. Development of further, better quality instruments is needed though this will likely require a longer tool which the healthcare workers delivering epilepsy care services have previously deemed nonfeasible for routine use. As we work toward development and acceptability of a more optimal instrument, use of this initial screening tool which healthcare workers are willing to use may increase the identification of comorbid depression and anxiety in the low resource setting described in the study. PMID:23510742
Full Text Available Epilepsy is the most common serious neurological conditionin the world, with an estimated prevalence of 1% ofthe population. A large number of experimental modelsof seizure and epilepsy have been developed. These experimentalmodels are elicited by chemical convulsants,electrical stimulation, genetic models, structural lesions,physical stimuli (cold, pressure, hyperthermia, electricalin animals. Well-characterized animal models may allowthe understanding of the basic mechanisms underlyingepileptogenesis (it refers to the alteration of a normalneuronal network into a hyperexcitable network in whichrecurrent, spontaneous seizures occur. Moreover, thesemodels might also prove useful in identifying novel therapeuticapproaches to treatment of epilepsy. J Clin ExpInvest 2011; 2(1: 118-123
Roy Trishit; Pandit Alak
Epilepsy is a common neurological disorder with diverse etiologies. Neuroimaging plays an important role in workup of patients with epilepsy. It helps to identify brain pathologies that require specific treatment; and also in formulating syndromic and etiological diagnoses so as to give patients and their relatives an accurate prognosis. Magnetic resonance imaging, specially the 3 tesla MRI is the imaging of choice because of its ability to detect small lesions like mesial temporal sclerosis,...
Sørensen, A S; Hansen, H; Andersen, R;
Patients with a long history of temporal lobe epilepsy or primary generalized epilepsy entered a questionnaire study of personality characteristics, based on a modification of the Bear-Fedio inventory for temporal lobe behavioural syndrome. Psoriasis patients and healthy volunteers served as...... controls. Four clinical meaningful dimensions of included personality traits were identified: ixoide, ideational, obsessive-compulsive and affective features. Analyses based on the Rasch model approved of all dimensions except for affective features. The epilepsy group obtained the highest scores on all 3...... dimensions, healthy volunteers the lowest, while the psoriasis group repeatedly held an intermediate position in all sets of assessment (subjects, interviewers and relatives). A logistic regression analysis showed ixoide features being most important when the entire epilepsy group was compared with other...
van Hoffen, Marieke F. A.; Joling, Catelijne I.; Heymans, Martijn W.; Twisk, Jos W. R.; Roelen, Corne A. M.
Background: Mental health problems are a leading cause of long-term sickness absence (LTSA). Workers at risk of mental LTSA should preferably be identified before they report sick. The objective of this study was to examine mental health symptoms as predictors of future mental LTSA in non-sicklisted
Catarina A. Guimarães
Full Text Available In children with temporal lobe epilepsy (TLE, memory deficit is not so well understood as it is in adults. The aim of this study was to identify and describe memory deficits in children with symptomatic TLE, and to verify the influence of epilepsy variables on memory. We evaluated 25 children with TLE diagnosed on clinical, EEG and MRI findings. Twenty-five normal children were compared with the patients. All children underwent a neuropsychological assessment to estimate intellectual level, attention, visual perception, handedness, and memory processes (verbal and visual: short-term memory, learning, and delayed recall. The results allowed us to conclude: besides memory deficits, other neuropsychological disturbances may be found in children with TLE such as attention, even in the absence of overall cognitive deficit; the earlier onset of epilepsy, the worse verbal stimuli storage; mesial lesions correlate with impairment in memory storage stage while neocortical temporal lesions correlate with retrieval deficits.
Ramocki, Melissa B.; Bartnik, Magdalena; Szafranski, Przemyslaw; Kołodziejska, Katarzyna E.; Xia, Zhilian; Bravo, Jaclyn; Miller, G. Steve; Rodriguez, Diana L.; Williams, Charles A.; Bader, Patricia I.; Szczepanik, Elżbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G.; Akman, Cigdem I.; McAlmon, Karen; Cohen, Melinda P.; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L.; Bacino, Carlos A.; Patel, Ankita; Bocian, Ewa; Shaw, Chad A.; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Paweł
We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.2 Mb deletion that includes the Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma (YWHAG) genes and that is flanked by large complex low-copy repeats, we identified sites for nonallelic homologous recombination in two patients. There were no cases of this ∼1.2 Mb distal 7q11.23 deletion copy number variant identified in over 20,000 control samples surveyed. Three individuals with smaller, nonrecurrent deletions (∼180–500 kb) that include HIP1 but not YWHAG suggest that deletion of HIP1 is sufficient to cause neurological disease. Mice with targeted mutation in the Hip1 gene (Hip1−/−) develop a neurological phenotype characterized by failure to thrive, tremor, and gait ataxia. Overall, our data characterize a neurodevelopmental and epilepsy syndrome that is likely caused by recurrent and nonrecurrent deletions, including HIP1. These data do not exclude the possibility that YWHAG loss of function is also sufficient to cause neurological phenotypes. Based on the current knowledge of Hip1 protein function and its proposed role in AMPA and NMDA ionotropic glutamate receptor trafficking, we believe that HIP1 haploinsufficiency in humans will be amenable to rational drug design for improved seizure control and cognitive and behavioral function. PMID:21109226
Chartonas, Dimitrios; Bose, Ruma
In this article, we discuss the impact of migration and acculturation processes on the cultural, personal identity, and mental health of children who immigrate to a Western, multicultural environment, and the challenges clinicians in such environments face, when confronted with non-Western idioms of distress and healing practices. We do that by presenting a challenging clinical case of an 8-year-old girl who presented with very disorganized behavior, which matches a culturally accepted construct of spirit possession, in the context of migration trauma, acculturative stress, and new sibling transition. We identify cultural conflict in school and bullying as major mediators between acculturative stress and mental distress. We also aim at identifying vulnerability, risk and protective factors, and the importance of cultural coping resources. We explore in depth the patient's cultural background and the family's belief system and culturally shaped narratives, in order to arrive at a cultural formulation, which focuses on the significance of idioms of distress in shaping psychopathology and influencing the personal and interpersonal course of trauma- and stress-related disorders. We also call attention to the finding that in children, idioms of distress may manifest themselves in a somatic manner. We argue, together with other researchers, that spirit possession deserves more interest as an idiom of distress and a culture-specific response to traumatizing events. We finally emphasize the importance of an anti-reductionist clinical stance, that is able to use different levels of understanding processes of distress and healing, and seeks to reconciliate cultural divides and integrate different explanatory frameworks and help-seeking practices. PMID:25670159
Cronin, C C
Whether there is an association between coeliac disease and epilepsy is uncertain. Recently, a syndrome of coeliac disease, occipital lobe epilepsy and cerebral calcification has been described, mostly in Italy. We measured the prevalence of coeliac disease in patients attending a seizure clinic, and investigated whether cerebral calcification occurred in patients with both coeliac disease and epilepsy. Screening for coeliac disease was by IgA endomysial antibody, measured by indirect immunofluorescence using sections of human umbilical cord. Of 177 patients screened, four patients were positive. All had small-bowel histology typical of coeliac disease. The overall frequency of coeliac disease in this mixed patient sample was 1 in 44. In a control group of 488 pregnant patients, two serum samples were positive (1 in 244). Sixteen patients with both coeliac disease and epilepsy, who had previously attended this hospital, were identified. No patient had cerebral calcification on CT scanning. Coeliac disease appears to occur with increased frequency in patients with epilepsy, and a high index of suspicion should be maintained. Cerebral calcification is not a feature of our patients with epilepsy and coeliac disease, and may be an ethnically-or geographically-restricted finding.
Murdock, Matthew C.; Morgan, Joseph A.; Laverghetta, Thomas S.
The teacher-student relationship can afford the music educator an opportunity to be the first to identify behaviors associated with epilepsy. A case of a student with epilepsy, based on the authors' experience, is described in which the music educators were the first and only individuals to become aware of a change in the student's behavior, after…
Musicogenic epilepsy, which is a form of reflex epilepsy, is characterized by the triggering of epileptic seizures by specific music experiences. Individuals with musicogenic epilepsy differ in the music trigger, but may have similar seizures. Typically, these seizures are focal dyscognitive and have a temporal-lobe origin with a limbic system distribution. As such, the music trigger is likely related to either an emotional or memory aspect of music perception. Investigations into musicogenic epilepsy may lead to a better understanding of seizure propagation within the brain and of neurologic aspects of the music experience. Successful treatment of medication-resistant musicogenic epilepsy has been achieved with anterior temporal-lobe resection. PMID:25726285
Weaver, Donald F; Pohlmann-Eden, Bernd
Pharmacoresistant epilepsy is a significant medical problem. The 2nd Halifax International Epilepsy Conference & Retreat identified crucial needs, which if successfully addressed, will aid in paving the way to improved lives for people with pharmacoresistant epilepsy. These are needs: (1) for an evidence-based and dynamic definition of pharmacoresistant epilepsy; (2) for a comprehensive description of the natural history of pharmacoresistant epilepsy; (3) for a comprehensive description of the complications and comorbidities of pharmacoresistant epilepsy; (4) for a rigorous delineation of the epidemiology and socioeconomic impact of pharmacoresistant epilepsy; (5) for clinically meaningful diagnostic and prognostic physiologically based electroencephalography (EEG) biomarkers; (6) for clinically meaningful diagnostic and prognostic anatomically based (MRI Imaging) biomarkers; (7) for biomolecular/biochemical mechanistic understanding of etiopathogenesis for pharmacoresistant epilepsy; (8) for representative animal models of pharmacoresistant epilepsy; (9) for new and effective drugs or other novel treatments for pharmacoresistant epilepsy; and (10) to promote continuing research and research funding targeting pharmacoresistant epilepsy. PMID:23646978
Full Text Available We aimed to identify the region harboring a putative candidate gene associated with hippocampal abnormalities (HAb in a family with mesial temporal lobe epilepsy (MTLE. Genome-wide scan was performed in one large kindred with MTLE using a total of 332 microsatellite markers at ~12cM intervals. An additional 13 markers were genotyped in the candidate region. Phenotypic classes were defined according to the presence of hippocampal atrophy and/or hyperintense hippocampal T2 signal detected on magnetic resonance imaging. We identified a significant positive LOD score on chromosome 18p11.31 with a Zmax of 3.12 at D18S452. Multipoint LOD scores and haplotype analyses localized the candidate locus within a 6cM interval flanked by D18S976 and D18S967. We present here evidence that HAb, which were previously related mainly to environmental risk factors, may be influenced by genetic predisposition. This finding may have major impact in the study of the mechanisms underlying abnormalities in mesial temporal lobe structures and their relationship with MTLE.
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Full Text Available ... best quality of life possible, so they should work with the caregivers to reach a balance between ... the treatment of epilepsy in adults with TSC. Working with a knowledgeable neurologist, you should identify the ...
Møller, Rikke; Hjalgrim, Helle
Idiopathic generalised epilepsies (IGEs) affect up to 0.3% of the general population. Genetic factors play a predominant role in the aetiology of IGEs. Molecular genetic studies have mainly identified causative gene mutations in rare monogenic forms of idiopathic epilepsies. However, the genetic...... variants predisposing to common IGE syndromes remain elusive. Identification of recurrent microdeletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 as rare but significant risk factors for IGE has provided new insights into the complex genetic predisposition of common epilepsies....
Full Text Available Epilepsy is a common neurological disorder with diverse etiologies. Neuroimaging plays an important role in workup of patients with epilepsy. It helps to identify brain pathologies that require specific treatment; and also in formulating syndromic and etiological diagnoses so as to give patients and their relatives an accurate prognosis. Magnetic resonance imaging, specially the 3 tesla MRI is the imaging of choice because of its ability to detect small lesions like mesial temporal sclerosis, cortical dysplasias, small tumors, etc that are not detected by conventional MR or CT scan of brain. Identification of these lesions often helps in managing refractory epilepsies more effectively. However, cost and non-availability of MR in large part of the country necessitate the use of CT as an alternative. CT is often the initial investigation and also useful in acute situations. Functional imagings are used for pre-surgical work-up of refractory epilepsy cases with an aim to identify the epileptogenic focus and to delineate functional areas nearing the focus.
Macdonald, Robert L; Kang, Jing-Qiong; Gallagher, Martin J
Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). These mutations are found in both translated and untranslated gene regions and have been shown to affect the GABAA receptors by altering receptor function and/or by impairing receptor biogenesis by multiple mechanisms including reducing subunit mRNA transcription or stability, impairing subunit folding, stability, or oligomerization and by inhibiting receptor trafficking. PMID:20308251
Generalized epilepsies, particularly the idiopathic or genetic generalized epilepsies (GGEs), represent some of the most common epilepsies. Clinical genetic data including family studies and twin studies provide compelling evidence for a prominent genetic impact. The first decade of the 21st century was marked by progress in understanding the basic biology of generalized epilepsies including generalized/genetic epilepsies with febrile seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1. Subsequently, recurrent microdeletions at 15q13.3, 16p13.11, and 15q11.2 were found to be relevant risk factors for nonfamilial GGE. Genes for epileptic encephalopathies such as SLC2A1 were rediscovered in GGE, highlighting the biological continuum between different epilepsies. Genome-wide studies examining common genetic risk factors identified common variants in SCN1A, indicating a convergence of shared pathophysiological pathways in various types of epilepsies. In the era of next-generation sequencing, however, the GGEs appear more complex than expected, and small or moderately sized studies give only a limited genetic perspective. Thus, there is a strong impetus for large collaborative investigations on an international level. PMID:26060908
Full Text Available Neurostimulation procedures like vagus nerve stimulation (VNS and deep brain stimulation have been used to treat refractory epilepsy and other neurological disorders. While holding promise, they are invasive interventions with serious complications and adverse effects. Moreover, their efficacies are modest with less seizure free. Acupuncture is a simple, safe, and effective traditional healing modality for a wide range of diseases including pain and epilepsy. Thalamus takes critical role in sensory transmission and is highly involved in epilepsy genesis particularly the absence epilepsy. Considering thalamus serves as a convergent structure for both acupuncture and VNS and the thalamic neuronal activities can be modulated by acupuncture, we propose that acupuncture could be a promising therapy or at least a screening tool to select suitable candidates for those invasive modalities in the management of refractory epilepsy.
Introduction: The assessment of the problem of seizures requires knowledge of the clinical details and features of the seizures, the functional abnormality in the brain as shown on the EEG, and the structural assessment of the brain with an MRI study optimized for epilepsy. Usually MRI or computed tomographic (CT) scan should be performed in evaluating the cause of a newly diagnosed seizure disorder. MRI is preferred over CT because of its greater sensitivity and specificity for identifying s...
Henning, Oliver J; Nakken, Karl O; Træen, Bente; Mowinckel, Petter; Lossius, Morten
Sexual dysfunction is an important but often neglected aspect of epilepsy. The objective of this study was to explore the prevalence and types of sexual problems in patients with epilepsy and compare the results with similar data obtained from a representative sample of the general population. At the National Centre for Epilepsy in Norway, 171 of 227 consecutive adult inpatients and outpatients with epilepsy (response rate: 75.3%) and their neurologists participated in a questionnaire study about epilepsy and sexuality. The results were compared with data available from 594 adult Norwegians who had completed the same questionnaire. Patients with epilepsy had a significantly higher prevalence of sexual problems (women: 75.3% vs. 12.0%; men: 63.3% vs. 9.6%). The most commonly reported problems (>30%) were reduced sexual desire, orgasm problems, erection problems, and vaginal dryness. The patients reported considerable dissatisfaction regarding sexual functioning. Significantly more sexual problems were found in patients of both sexes with reduced quality of life and in women with symptoms of depression. We found no significant association between sexual problems and age of epilepsy onset, type of epilepsy, or use of enzyme-inducing antiepileptic drugs. Whereas age at sexual debut did not differ between the patients with epilepsy and the general population, men with epilepsy had a lower number of partners during the last 12months, and the proportion of women with a low frequency of intercourse was higher in the group with epilepsy. In conclusion, sexual problems are significantly greater in Norwegian patients with epilepsy than in the general adult population. As no single epilepsy type or treatment could be identified as a specific predisposing factor, it seems likely that there are multiple causes underlying our results, including both organic and psychosocial factors. PMID:27371882
Berendt, Mette; Gulløv, Christina Hedal; Fredholm, Merete
OBJECTIVES: To establish the mode of inheritance and describe the clinical features of epilepsy in the Belgian shepherd, taking the outset in an extended Danish dog family (199 individuals) of Groenendael and Tervueren with accumulated epilepsy. METHODS: Epilepsy positive individuals (living and...... deceased) were ascertained through a telephone interview using a standardised questionnaire regarding seizure history and phenomenology. Living dogs were invited to a detailed clinical evaluation. Litters more than five years of age, or where epilepsy was present in all offspring before the age of five...... seizures. In seven dogs, seizures could not be classified. The mode of inheritance of epilepsy was simple Mendelian. CLINICAL SIGNIFICANCE: This study identified that the Belgian shepherd suffers from genetically transmitted focal epilepsy. The seizure phenomenology expressed by family members have a...
Yasuda, Clarissa Lin; Betting, Luiz Eduardo; Cendes, Fernando
Voxel-based morphometry is an automated technique for MRI analyses, developed to study differences in brain morphology and frequently used to study patients with diverse disorders. In epilepsy, it has been used to investigate areas with reduction or increase of gray and white matter, in different syndromes (i.e., temporal lobe epilepsy, focal cortical dysplasia and generalized epilepsies). In temporal lobe epilepsy, voxel-based morphometry showed gray/white matter atrophy extending beyond the atrophic hippocampus. These widespread abnormalities have been associated with seizure frequency, epilepsy duration, incidence of precipitating factors, cognitive dysfunction and surgical outcome. In generalized epilepsies, gray matter abnormalities were identified mainly in the thalamus and frontal cortex, reinforcing the role of the thalamocortical network in the mechanisms of generalized seizures. PMID:20518612
Kettner, Laura O; Ramlau-Hansen, Cecilia H; Kesmodel, Ulrik S;
BACKGROUND: A few studies have indicated an increased risk of epilepsy in children conceived by fertility treatment possibly due to characteristics of the infertile couple rather than the treatment. We therefore aimed to investigate the association between parental infertility, fertility treatment......, and epilepsy in the offspring, including the subtypes of epilepsy; idiopathic generalised epilepsy and focal epilepsy. METHODS: This cohort included all pregnancies resulting in liveborn singletons from the Aarhus Birth Cohort, Denmark (1995-2013). Information on time to pregnancy and fertility...... treatment was obtained from pregnancy questionnaires in early pregnancy. Children developing epilepsy were identified from the Danish National Patient Register and the Danish National Prescription Registry until 2013. Data were analysed using Cox proportional hazards regression adjusted for potential...
The Swiss Guideline concerning epilepsy and driving has recently been revised. Recommendations have changed significantly in several respects. Some modifications arise indirectly from a change in the overall concept of epilepsy. As a consequence of the application of the new ILAE definition and diagnostic criteria for epilepsy, there are now cases in which the diagnosis of epilepsy is established even after one single seizure. Furthermore, a concept of imminent epilepsy was introduced to identify patients without seizures, but with a high risk of a first seizure within twelve months. On the other hand, the concept of a "resolved epilepsy" was established to loosen driving regulations for longterm seizure-free patients. In addition, the new guideline provides differential recommendations for provoked vs. unprovoked seizures in several clinical constellations. PMID:26953368
Ramocki, Melissa B.; Bartnik, Magdalena; Szafranski, Przemyslaw; Kołodziejska, Katarzyna E.; Xia, Zhilian; Bravo, Jaclyn; Miller, G. Steve; Rodriguez, Diana L.; Williams, Charles A; Bader, Patricia I; Szczepanik, Elżbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G.; Akman, Cigdem I.
We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.2 Mb deletion that includes the Huntingtin-interacting protein 1 (HIP1) and tyrosine 3-monooxygenase/tryptophan 5-mo...
Full Text Available Approximately 20% of paediatric patients with epilepsy are refractory to medical therapies. In this subgroup of patients, neuroimaging plays an important role in identifying an epileptogenic focus. Successful identification of a structural lesion results in a better outcome following epilepsy surgery. Advances in imaging technologies, methods of epileptogenic region localisation and refinement of clinical evaluation of this group of patients in epilepsy centres have helped to widen the spectrum of children who could potentially benefit from surgical treatment. In this review, we discuss ways to optimise imaging techniques, list typical imaging features of common pathologies that can cause epilepsy, and potential pitfalls to be aware of whilst reviewing imaging studies in this challenging group of patients. The importance of multidisciplinary meetings to analyse and synthesise all the non-invasive data is emphasised. Our objectives are: to describe the four phases of evaluation of children with drug-resistant localisation-related epilepsy; to describe optimal imaging techniques that can help maximise detection of epileptogenic foci; to describe a systematic approach to reviewing magnetic resonance imaging of children with intractable epilepsy; to describe the features of common epileptogenic substrates; to list potential pitfalls whilst reviewing imaging studies in these patients; and to highlight the value of multimodality and interdisciplinary approaches to the management of this group of children.
Gupta, V. P.; Shiveta Razdan; Rajesh Sharma; Pandita, K. K.; Sushil Razdan; Sunil Kumar Raina
Objective. To determine the contribution of neurocysticercosis as a cause for active epilepsy and to establish Neurocysticercosis as major definable risk of epilepsy in our setup. Methods. We conducted a door-to-door survey of 2,209 individuals of Bhore Pind and Bhore Kullian villages in Chattah zone of district Jammu (Jumma and Kashmir, Northwest India) to identify patients with symptomatic epilepsy. Patients with active epilepsy were investigated with neuroimaging techniques to establish di...
"nEpilepsy is a common disorder, affecting 50 million people worldwide. The prevalence of epilepsy has significant medical, social, and economic implications both for the individual and for the society. "nIn evaluating the epilepsy patient, it is helpful to be familiar with the etiologies commonly associated with this disease. Identifiable causes of partial epilepsy have been divided into 5 categories, namely neoplasms, vascular abnormalities, mesial temporal sclerosis (MTS), non-va...
Raman Deep PATTANAYAK
model. Epilepsia 2007;48(9:1639-51.32. Ott D, Caplan R, Guthrie D, Siddarth P, Komo S, Shields WD, et al. Measures of psychopathology in children with complex partial seizures and primary generalized epilepsy with absence. J Am Acad Child Adolesc Psychiatry 2001;40(8:907-14.33. Mathiak KA, Luba M, Mathiak, K, Karzel, K, Wolanczyk, Szczepanik E, et al. Quality of life in childhood epilepsy with lateralized epileptogenic foci. BMC Neurol 2010;10:69.34. Bulteau C, Jambaque I, Viguier D, Kieffer V, Dellatolas G, Dulac O. Epileptic syndromes, cognitive assessment and school placement: a study of 251 children. Dev Med Child Neurol 2000;42(5:319-27.35.Noeker M, Haverkamp F. Neuropsychological deficiencies as a mediator between CNS dysfunction and inattentive behaviour in childhood epilepsy. Dev Med Child Neurol 2003;45(10:717-8.36. Sillanpää M, Helen Cross J. The psychosocial impact of epilepsy in childhood. Epilepsy Behav 2009;15 Suppl 1:S5-10.37. Miller V, Palermo TM, Grewe SD. Quality of life in pediatric epilepsy: Demographic and disease-related predictors and comparison with healthy controls. Epilepsy Behav 2003,4(1:36-42.38. Kokkonen J, Kokkonen ER, Saukkonen AL, Pennanen P. Psychosocial outcome of young adults with epilepsy in childhood. J Neurol Neurosurg Psychiatry 1997;62(3:265-8.39. Pal DK, Chaudhury G, Sengupta S, Das T: Social integration of children with epilepsy in rural India. Soc Sci Med 2002;54(12:1867-74.40. Modi AC. The impact of a new pediatric epilepsy diagnosis on parents: parenting stress and activity patterns. Epilepsy Behav 2009;14(1:237-42.41. Shore C, Austin J, Musick B, Dunn D, McBride A, Creasy K. Psychosocial care needs of parents of children with new-onset seizures. J Neurosci Nurs 1998;30:169-74.42. Rodenburg R, Marie Meijer A, Dekovic´ M, Aldenkamp AP. Family predictors of psychopathology in children with epilepsy. Epilepsia 2006;47(3:601-14.43.Mims J. Self-esteem, behavior, and concerns surrounding epilepsy in siblings
Sørensen, A S; Hansen, H; Høgenhaven, H; Bolwig, T G
Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects...
Callenbach, PMC; Brouwer, OF
This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described. (C) 199
The "severity" of a disease is a relative expression and its definition will vary depending on the perspective of the observer. The patient's subjective perception of the disease, the way it is regarded socially by the community, and the doctor's objective assessment rarely coincide. In fact, they are frequently diametrically opposed. As far as the patient's personal perception of epilepsy is concerned, there has apparently been no satisfactory attempt thus far at a systematic grading of the subjective handicap, despite the growth of interest in psychological matters and the self-help movement. Similarly, social ability or disability cannot be adequately assessed on the basis of medical criteria such as frequency and type of seizures. We present a grading system which will serve as an example of an appropriate method of assessing social abilities, and which will permit the patient's occupational potential to be estimated in relation to the risk of accidents resulting from seizures. From the medical point of view, the impairment of a patient's abilities due to epilepsy is a function of the patient's responsiveness to treatment. We present a critical review of the factors which have an effect on the therapeutic prognosis: the causes of epilepsy, underlying structural lesions, the incidence of convulsive status epilepticus, various types of attacks, and the different epileptic syndromes. Taking two examples--epilepsy presenting in the form of absence and epilepsy with complex focal seizures--we show that ultimately the "severity of epilepsy" can only be defined from the medical standpoint on the basis of several factors whose value is of a predictive nature. PMID:3292232
Hirvasniemi, A; Lang, H; Lehesjoki, A E; Leisti, J
A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One th...
I. E. Poverennova
Full Text Available Epilepsy associated with malformations of the cerebral cortex is reported in the literature to account for up to 25% of the total cases of symptomatic epilepsies. It is characterized by the most severe course and often induces drug-resistance in seizures. A group of patients with resistant seizures is singled out among the total number of patients with symptomatic epilepsy caused by cerebral cortical dysgenesis. The most important risk factors for resistance are identified in dysplasias. The prognostically unfavorable clinical features of epilepsy are described. A diagnostic algorithm is proposed to identify risk groups and to prevent drug-resistant forms of epilepsy.
Al-Biltagi, Mohammed A
Sleep and epilepsy are two well recognized conditions that interact with each other in a complex bi-directional way. Some types of epilepsies have increased activity during sleep disturbing it; while sleep deprivation aggravates epilepsy due to decreased seizure threshold. Epilepsy can deteriorate the sleep-related disorders and at the same time; the parasomnias can worsen the epilepsy. The secretion of sleep-related hormones can also be affected by the occurrence of seizures and supplementat...
Singh R; Bhalla A; Lehl S; Sachdev A
Reflex epilepsy is the commonest form of epilepsy in which seizures are provoked by specific external stimulus. Photosensitive reflex epilepsy is provoked by environmental flicker stimuli. Video game epilepsy is considered to be its variant or a pattern sensitive epilepsy. The mean age of onset is around puberty and boys suffer more commonly as they are more inclined to play video games. Television set or computer screen is the commonest precipitants. The treatment remains the removal of the ...
Epilepsy is a heterogenous group of disorders with multiple causes. Clinical management of epilepsy patients requires knowledge of seizure syndromes, causes, and imaging features. The aim of radiological investigations is to recognize the underlying cause of epilepsy. The main indications for neuroimaging studies are partial and secondarily generalized seizures, patients with neurological signs and intractable seizures, and patients with focal signs on EEG. Partial seizures of any type are more likely to be associated with a focus that may be identified on neuroimaging. MRI is the method of choice for evaluating structural abnormalities of the brain. High resolution MRI and dedicated imaging technique are needed for detection of subtle pathological changes as cortical dysplasias and temporal medial sclerosis. Other lesions that may be detected include neoplasms, vascular malformations, destructive lesions following brain injury, stroke, infection, etc. CT continues to be the technique for the investigation of patients with seizures under certain conditions. New techniques such as functional MRI, MR spectroscopy, SPECT, receptor PET and magnetic source imaging are becoming clinical tools for improving diagnosis
Christensen, Jakob; Vestergaard, Mogens; Pedersen, Marianne G;
PURPOSE: To estimate the occurrence of epilepsy in Denmark between 1977 and 2002, taking gender, age, and secular trends into consideration. METHODS: We used the Danish Civil Registration System to identify all persons born in Denmark and the Danish National Hospital Register to identify persons...... registered with epilepsy between 1977 and 2002. RESULTS: Between 1977 and 2002 the average incidence of epilepsy was 68.8 new epilepsy patients per 100,000 person-years at risk. However, the incidence changed with calendar time and increased steeply from 1990 to 1995, probably due to changes in diagnostic...... declined from a high level in children to a low level between 20 and 40 years of age, and thereafter a gradual increase was seen. The incidence rate was slightly higher in men than in women except for the age range 10-20 years. About 2% of the population was diagnosed with epilepsy at some point during the...
Full Text Available BACKGROUND: The impact of a scientific article is proportional to the citations it has received. In this study, we set out to identify the most cited works in epileptology in order to evaluate research trends in this field. METHODS: According to the Web of Science database, articles with more than 400 citations qualify as "citation classics". We conducted a literature search on the ISI Web of Science bibliometric database for scientific articles relevant to epilepsy. RESULTS: We retrieved 67 highly cited articles (400 or more citations, which were published in 31 journals: 17 clinical studies, 42 laboratory studies, 5 reviews and 3 classification articles. Clinical studies consisted of epidemiological analyses (n=3, studies on the clinical phenomenology of epilepsy (n=5 – including behavioral and prognostic aspects – and articles focusing on pharmacological (n=6 and non-pharmacological (n=3 treatment. The laboratory studies dealt with genetics (n=6, animal models (n=27, and neurobiology (n=9 – including both neurophysiology and neuropathology studies. The majority (61% of citation classics on epilepsy were published after 1986, possibly reflecting the expansion of research interest in laboratory studies driven by the development of new methodologies, specifically in the fields of genetics and animal models. Consequently, clinical studies were highly cited both before and after the mid 80s, whilst laboratory researches became widely cited after 1990. CONCLUSIONS: Our study indicates that the main drivers of scientific impact in the field of epileptology have increasingly become genetic and neurobiological studies, along with research on animal models of epilepsy. These articles are able to gain the highest numbers of citations in the time span of a few years and suggest potential directions for future research.
Frankel, Wayne N.
Epilepsy is a complex neurological disease. Currently ~20 genetic variants are known to cause Mendelian forms of human epilepsy, leaving a vast heritability undefined with future hopes resting on candidate gene resequencing and/or large scale genome-wide association studies. Rodent models for genetically complex epilepsy have been studied for many years, but only recently have strong candidate genes emerged, including Cacna1g in the GAERS rat model of absence epilepsy and Kcnj10 in the low se...
Carrozzino, Danilo; Marchetti, Daniela; Laino, Daniela; Minna, Maria; Verrocchio, Maria Cristina; Fulcheri, Mario; Verrotti, Alberto; Bech, Per
Background Anxiety and depression have been considered to be neglected disorders in epilepsy. Because panic disorder is one of the most important anxiety disorders, it has been problematic to use very comprehensive anxiety questionnaires in epilepsy patients, as panic attacks and epileptic seizures, although two distinct clinical entities from a diagnostic point of view, show a significant overlap of symptoms. Aims We have focused on single items for anxiety and depression as screening candidates in adolescent epilepsy. Methods The individual panic attack item in the Screen for Children Anxiety Related Emotional Disorders Scale (SCARED) and the single depression item in the Kellner Symptom Questionnaire were tested. Our samples consisted of adolescent patients with epilepsy and a matched control group with healthy participants, as well as two numerical groups acting as controls. Results The single panic attack item identified panic anxiety in 24.1% in the group of patients with epilepsy and 0.0% in the matched control group (p = 0.01). The single depression item identified 52.2% with depression in the epilepsy group and 6.2% in the matched control group (p = 0.001). Conclusion As screening instruments, single items of panic attack and depression are sufficient to screen for these affective states in adolescent epilepsy. The clinical implications are that it is important to be quite specific when screening for depression and panic attacks in adolescent patients with epilepsy. PMID:26906494
Full Text Available ... for a listing of epilepsy centers go to www.naec-epilepsy.org or call 1-888-525- ... some individuals. Links Information for Women with Epilepsy: www.epilepsy.com/info/women Information for Men with ...
Janković, S M; Sokić, D V; Lević, Z M; Susić, V; Drulović, J; Stojsavljević, N; Veskov, R; Ivanus, J
The history of eponyms for epilepsy in the lands of the Eastern globe present the portrait of the attitudes of both the laymen and skilled people towards the disease and patient, as well as to the Nature itself. As opposed to the West which during the Middle ages changed its concepts of epilepsy as the organic brain disease for the sublime 'alchemic' position, the people of the East were more prone to consider from the beginning of their civilization till the XIX century that epilepsy is the consequence of the evanescent spiritual and extracorporal forces which by themselves were out of their reach. As compared to the western civilization, the historical resources are, often as a consequence of a linguistic barriers, more scarce-as consequently is the number of eponyms, but are nevertheless picturesque. The medical science from Babylonian period presumed that epileptic manifestations are the consequence of the demonic or ill spiritual actions. There existed an attitude that at the beginning of an epileptic attack the patient was possessed by a demon (the Akkadic, i.e., Babylonian verb "sibtu" denoting epilepsy, had the meaning "to seize" or "to be obsessed"); at the end of the clonic phase the demon departed from the body. Different demons were responsible for different forms of epilepsy such as nocturnal and children epilepsy, absence epilepsy and pure convulsions, simple and complex automatisms, and gelastic epilepsy. Thus, the doctors from the period of Babylon aside from making primordial classification of epilepsies, knew about their clinical picture (prodromal symptoms and aura, Jackson's epilepsy. Todd's paralysis), postictal phenomena and intericatl emotional instability; provocative factors were also known (sleep deprivation, emotions, as well as alcohol, albeit in a negative sense-as a cure for epilepsy). There is no doubt than in the period of Babylon the clinical picture of serial fits and its progress to status epilepticus were clearly recognized and
Full Text Available Reflex epilepsy is the commonest form of epilepsy in which seizures are provoked by specific external stimulus. Photosensitive reflex epilepsy is provoked by environmental flicker stimuli. Video game epilepsy is considered to be its variant or a pattern sensitive epilepsy. The mean age of onset is around puberty and boys suffer more commonly as they are more inclined to play video games. Television set or computer screen is the commonest precipitants. The treatment remains the removal of the offending stimulus along with drug therapy. Long term prognosis in these patients is better as photosensitivity gradually declines with increasing age. We present two such case of epilepsy induced by video game.
Full Text Available In Ayurveda, Mental disorders and psychological temperaments have been broadly described [e.g. vata vyadhi (nervous disorders, unmada (insanity, murccha, moha (loss of consciousness, vismriti (amnesia, apasmara (epilepsy etc.]. In Ayurveda, Apasmara (or epilepsy has been described among the maharoga (a group of eight diseases well-known for causing serious morbidity. In the Ayurvedic texts, Apasmara (Epilepsy is defined as sudden abhorrent bodily activities (vibhatsa-cheshta accompanied by momentary blackouts or loss of consciousness (tama-pravesha owing to disturbance in mental faculties of dhi (intelligence, dhriti (retention and smriti (memory. Epilepsy is a major public health problem all over world. The estimated proportion of the general population with active epilepsy (i.e. continuing seizures or the need for treatment at a given time ranges from 4-10 per 1,000 people. Herbal remedies have been recommended in various medical treatises for the cure of different diseases. In this regard, there is great prospective for identifying excellent Ayurvedic components or its active principles, particularly in consideration of the fact that such substances may provide maximum advantage with cost effectiveness, least side effects, and improvement of patient compliance.
Objective: To study the characteristics of the epileptics and the risk factors contributing to the development of epilepsy. Results: Majority of the subjects were single (77.84%), 1st born among their siblings (25.95%), belonged to low social class (50.63%), and unemployed(25.31%). The major risk factors were family history of illness (23.52%) and positive medical problem around birth (12.66%). The presence of family history of illness, positive medical problem around birth and advanced maternal age at birth were associated with early onset of epilepsy. Vulnerability for the epilepsy also increases among hospital deliveries. Conclusion: Although the present study has identified various risk factors, yet the results need to be further confirmed through case-control studies. (author)
Ngomba, R.T.; Biagioni, F.; Casciato, S.; Willems-van Bree, P.C.M.; Battaglia, G.; Bruno, V.; Nicoletti, F.; Luijtelaar, E.L.J.M. van
We examined the expression and function of group-II metabotropic glutamate (mGlu) receptors in an animal model of absence seizures using genetically epileptic WAG/Rij rats, which develop spontaneous non-convulsive seizures after 2-3 months of age. Six-month-old WAG/Rij rats showed an increased expre
Semah, F. [Service Hospitalier Frederic Joliot, DSV-CEA, 91 Orsay (France)
The research projects on epilepsy addressed two main issues: the pathophysiology of the inter-ictal hypo-metabolism in temporal lobe epilepsy and the role of the basal ganglia in the control of seizure. Our research projects focused primarily on temporal lobe epilepsy: The pathophysiology of inter-ictal hypo-metabolism and its correlation with the epileptogenic network was investigated in patients with mesial temporal lobe epilepsy. Inter-ictal hypo-metabolism is commonly found in mesio-temporal lobe epilepsy (MTLE) but its pathophysiology remains incompletely understood. We hypothesized that metabolic changes reflect the preferential networks involved in ictal discharges. We analyzed the topography of inter-ictal hypo-metabolism according to electro-clinical patterns in 50 patients with unilateral hippocampal sclerosis (HS) and consistent features of MTLE. Based on electro-clinical correlations we identified 4 groups:1) mesial group characterized by mesial seizure onset without evidence of early spread beyond the temporal lobe; 2) anterior mesio-lateral group (AML) with early anterior spread, involving the anterior lateral temporal cortex and insulo-fronto-opercular areas; 3) widespread mesio-lateral group (WML) with widespread spread, involving both anterior and posterior lateral temporal and peri-sylvian areas; 4) bi-temporal group (BT) with early contralateral temporal spread. Results of FDG-PET imaging in each group were compared to control subjects using statistical parametric mapping software (SPM99). MRI data and surgical outcome in each group were compared to metabolic findings. Hypo-metabolism was limited to the hippocampal gyrus, the temporal pole and the insula in the mesial group. Gradual involvement of the lateral temporal cortex, the insula and the peri-sylvian areas was observed in the AML and WML groups. The BT group differed from the others by mild bi-temporal involvement, bilateral insular hypo-metabolism and longer epilepsy duration. MRI
The research projects on epilepsy addressed two main issues: the pathophysiology of the inter-ictal hypo-metabolism in temporal lobe epilepsy and the role of the basal ganglia in the control of seizure. Our research projects focused primarily on temporal lobe epilepsy: The pathophysiology of inter-ictal hypo-metabolism and its correlation with the epileptogenic network was investigated in patients with mesial temporal lobe epilepsy. Inter-ictal hypo-metabolism is commonly found in mesio-temporal lobe epilepsy (MTLE) but its pathophysiology remains incompletely understood. We hypothesized that metabolic changes reflect the preferential networks involved in ictal discharges. We analyzed the topography of inter-ictal hypo-metabolism according to electro-clinical patterns in 50 patients with unilateral hippocampal sclerosis (HS) and consistent features of MTLE. Based on electro-clinical correlations we identified 4 groups:1) mesial group characterized by mesial seizure onset without evidence of early spread beyond the temporal lobe; 2) anterior mesio-lateral group (AML) with early anterior spread, involving the anterior lateral temporal cortex and insulo-fronto-opercular areas; 3) widespread mesio-lateral group (WML) with widespread spread, involving both anterior and posterior lateral temporal and peri-sylvian areas; 4) bi-temporal group (BT) with early contralateral temporal spread. Results of FDG-PET imaging in each group were compared to control subjects using statistical parametric mapping software (SPM99). MRI data and surgical outcome in each group were compared to metabolic findings. Hypo-metabolism was limited to the hippocampal gyrus, the temporal pole and the insula in the mesial group. Gradual involvement of the lateral temporal cortex, the insula and the peri-sylvian areas was observed in the AML and WML groups. The BT group differed from the others by mild bi-temporal involvement, bilateral insular hypo-metabolism and longer epilepsy duration. MRI
Full Text Available Introduction: The assessment of the problem of seizures requires knowledge of the clinical details and features of the seizures, the functional abnormality in the brain as shown on the EEG, and the structural assessment of the brain with an MRI study optimized for epilepsy. Usually MRI or computed tomographic (CT scan should be performed in evaluating the cause of a newly diagnosed seizure disorder. MRI is preferred over CT because of its greater sensitivity and specificity for identifying small lesions."nBecause there is an option of surgical excision of the "seizure focus," which may cure the patient, the detection of a focal abnormality of the brain is important for the formulation of the reason for the seizures and the options available for treatment. Knowledge of the brain abnormalities early in the course of treating the patient greatly helps the management of each individual. The challenge to epileptologists is that the problem of epilepsy is a special one, which requires optimized protocols dedicated to it."nMRI interpretation is different when used in a screening way and when viewed in the context of other investigations. This is particularly important when the patient has partial seizures and may be considered for surgical treatment."nMost centers that deal with epilepsy spend a great deal of time in ensuring the quality of their EEG and EEG interpretation. However, unless there is a radiologist with an interest in epilepsy or an epileptologist who spends time with radiologist colleagues, it can be difficult to establish good epilepsy-focused MRI with appropriate sequences, radiography, and interpretation. MRI acquisition and interpretation need to be focused on the problem of epilepsy."nIndication"nThe American academy of neurology has published practice parameters for neuroimaging (NI studies (MRI, CT of patients having a first seizure. Emergent NI (scan immediately should be performed when a health care provider suspects a serious
The choice of environmental taxes is one of the central themes in policy design for agricultural pollution control, which dominates both empirical and theoretical research. This paper examines two assumptions very often employed in applied research, namely the absence of transaction costs and the normality of agricultural pollutants. Our results indicate that the well-known superiority of emission taxes over input taxes may not always be valid, when transaction costs are taken into account. F...
J Gordon Millichap
Full Text Available Investigators from the Boston Children's Hospital, New York University, Brown University, and Birmingham School of Medicine, AL, studied the clinical epilepsy and imaging features of 87 patients with polymicrogyria (PMG and epilepsy, recruited through the Epilepsy Phenome/Genome Project.
Full Text Available Epilepsy is the most common neurological disease worldwide and is second only to stroke in causing neurological morbidity. Neuroimaging plays a very important role in the diagnosis and treatment of patients with epilepsy. This review article highlights the specific role of various imaging modalities in patients with epilepsy, and their practical applications in the management of epileptic patients.
Gaby, Alan R
This article reviews research on the use of diet, nutritional supplements, and hormones in the treatment of epilepsy. Potentially beneficial dietary interventions include identifying and treating blood glucose dysregulation, identifying and avoiding allergenic foods, and avoiding suspected triggering agents such as alcohol, aspartame, and monosodium glutamate. The ketogenic diet may be considered for severe, treatment-resistant cases. The Atkins diet (very low in carbohydrates) is a less restrictive type of ketogenic diet that may be effective in some cases. Nutrients that may reduce seizure frequency include vitamin B6, magnesium, vitamin E, manganese, taurine, dimethylglycine, and omega-3 fatty acids. Administration of thiamine may improve cognitive function in patients with epilepsy. Supplementation with folic acid, vitamin B6, biotin, vitamin D, and L-carnitine may be needed to prevent or treat deficiencies resulting from the use of anticonvulsant drugs. Vitamin K1 has been recommended near the end of pregnancy for women taking anticonvulsants. Melatonin may reduce seizure frequency in some cases, and progesterone may be useful for women with cyclic exacerbations of seizures. In most cases, nutritional therapy is not a substitute for anticonvulsant medications. However, in selected cases, depending on the effectiveness of the interventions, dosage reductions or discontinuation of medications may be possible. PMID:17397265
Hesdorffer, Dale C; Trimble, Michael
Associations between epilepsy and musical or poetic composition have received little attention. We reviewed the literature on links between poetic and musical skills and epilepsy, limiting this to the Western canon. While several composers were said to have had epilepsy, John Hughes concluded that none of the major classical composers thought to have had epilepsy actually had it. The only composer with epilepsy that we could find was the contemporary composer, Hikari Oe, who has autism and developed epilepsy at age 15years. In his childhood years, his mother found that he had an ability to identify bird sound and keys of songs and began teaching him piano. Hikari is able to compose in his head when his seizures are not severe, but when his seizures worsen, his creativity is lost. Music critics have commented on the simplicity of his musical composition and its monotonous sound. Our failure to find evidence of musical composers with epilepsy finds parallels with poetry where there are virtually no established poets with epilepsy. Those with seizures include Lord George Byron in the setting of terminal illness, Algernon Swinburne who had alcohol-related seizures, Charles Lloyd who had seizures and psychosis, Edward Lear who had childhood onset seizures, and Vachel Lindsay. The possibility that Emily Dickinson had epilepsy is also discussed. It has not been possible to identify great talents with epilepsy who excel in poetic or musical composition. There are few published poets with epilepsy and no great composers. Why is this? Similarities between music and poetry include meter, tone, stress, rhythm, and form, and much poetry is sung with music. It is likely that great musical and poetic compositions demand a greater degree of concentration and memory than is possible in epilepsy, resulting in problems retaining a musical and mathematical structure over time. The lack of association between recognizable neuropsychiatric disorders and these skills is a gateway to
D. K. V. Prasad
Full Text Available Idiopathic generalized epilepsy (IGE is a common type of epilepsy. Strong support for a genetic role in IGE comes from twin and family studies. Several subtypes of IGE have been reported but families often have members affected with different subtypes. Major advances have been made in the understanding of genetic basis of monogenic inherited epilepsies. However, most IGEs are complex genetic diseases and some susceptible IGE genes are shared across subtypes that determine subtypes in specific combinations. The high throughput technologies like deoxyribonucleic acid microarrays and sequencing technologies have the potential to identify causative genes or loci in non-familial cases.
Full Text Available Ludmyla Kandratavicius,1 Priscila Alves Balista,1 Cleiton Lopes-Aguiar,1 Rafael Naime Ruggiero,1 Eduardo Henrique Umeoka,2 Norberto Garcia-Cairasco,2 Lezio Soares Bueno-Junior,1 Joao Pereira Leite11Department of Neurosciences and Behavior, 2Department of Physiology, Ribeirao Preto School of Medicine, University of Sao Paulo, Ribeirao Preto, BrazilAbstract: Epilepsy is a chronic neurological condition characterized by recurrent seizures that affects millions of people worldwide. Comprehension of the complex mechanisms underlying epileptogenesis and seizure generation in temporal lobe epilepsy and other forms of epilepsy cannot be fully acquired in clinical studies with humans. As a result, the use of appropriate animal models is essential. Some of these models replicate the natural history of symptomatic focal epilepsy with an initial epileptogenic insult, which is followed by an apparent latent period and by a subsequent period of chronic spontaneous seizures. Seizures are a combination of electrical and behavioral events that are able to induce chemical, molecular, and anatomic alterations. In this review, we summarize the most frequently used models of chronic epilepsy and models of acute seizures induced by chemoconvulsants, traumatic brain injury, and electrical or sound stimuli. Genetic models of absence seizures and models of seizures and status epilepticus in the immature brain were also examined. Major uses and limitations were highlighted, and neuropathological, behavioral, and neurophysiological similarities and differences between the model and the human equivalent were considered. The quest for seizure mechanisms can provide insights into overall brain functions and consciousness, and animal models of epilepsy will continue to promote the progress of both epilepsy and neurophysiology research.Keywords: epilepsy, animal model, pilocarpine, kindling, neurodevelopment
The γ-aminobutyric acid receptor type A (GABAA receptor) is a ligand-gated chloride channel that mediates major inhibitory functions in the central nervous system. GABAA receptors function mainly as pentamers containing α, β, and either γ or δ subunits. A number of antiepileptic drugs have agonistic effects on GABAA receptors. Hence, dysfunctions of GABAA receptors have been postulated to play important roles in the etiology of epilepsy. In fact, mutations or genetic variations of the genes encoding the α1, α6, β2, β3, γ2, or δ subunits (GABRA1, GABRA6, GABRB2, GABRB3, GABRG2, and GABRD, respectively) have been associated with human epilepsy, both with and without febrile seizures. Epilepsy resulting from mutations is commonly one of following, genetic (idiopathic) generalized epilepsy (e.g., juvenile myoclonic epilepsy), childhood absence epilepsy, genetic epilepsy with febrile seizures, or Dravet syndrome. Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. These mutations compromise hyperpolarization through GABAA receptors, which is believed to cause seizures. Interestingly, most of the insufficiencies are not caused by receptor gating abnormalities, but by complex mechanisms, including endoplasmic reticulum (ER)-associated degradation, nonsense-mediated mRNA decay, intracellular trafficking defects, and ER stress. Thus, GABAA receptor subunit mutations are now thought to participate in the pathomechanisms of epilepsy, and an improved understanding of these mutations should facilitate our understanding of epilepsy and the development of new therapies. PMID:25194483
Sørensen, A S; Hansen, H; Høgenhaven, H;
Two groups of epilepsy patients (28 patients with temporal lobe epilepsy and 15 patients with primary generalized epilepsy) entered a study of personality traits related to epilepsy, based on a modification of Bellak's semistructured interview for assessment of ego strength. Two groups of subjects...... served as controls: 15 patients with a non-neurological but relapsing disorder, psoriasis, and 15 healthy volunteers. Compared with the group of healthy volunteers, a decreased adaptive level of ego functioning was found in the epilepsy groups, regardless of seizure types and EEG findings, and, to a...... than 15 years when the disease began. The number of anticonvulsants administered did not influence the results. No difference on adaptive level of ego functioning was found between the group with primary generalized epilepsy and the group with temporal lobe epilepsy. Similarly, the temporal lobe...
Full Text Available Abstract Background Epilepsy affects an estimated 50 million people and accounts for approximately 1% of days lost to ill health globally, making it one of the most common, serious neurological disorders. While there are abundant global data on epilepsy incidence, prevalence and treatment, there is a paucity of Australian incidence data. There is also a general lack of information on the psychosocial impact and socioeconomic consequences of a new diagnosis of epilepsy on an individual, their family, household, and community which are often specific to the health and social system of each country. Methods/Design The Sydney Epilepsy Incidence Study to Measure Illness Consequences (SEISMIC is an Australian population-based epilepsy incidence and outcome study that will recruit every newly diagnosed case of epilepsy in the Sydney South West Area Health Service to an epilepsy register. Multiple and overlapping sources of notification will be used to identify all new cases of epilepsy over a 24 month period in the Eastern Zone of the Sydney South West Area Health Service (SSWAHS and follow up will occur over 12 months. SEISMIC will use the International League Against Epilepsy (ILAE definitions and classifications for epidemiologic studies of epilepsy. The study will examine outcomes including mood, quality of life, employment, education performance, driving status, marital and social problems, medication use, health care usage, costs and stigma. Discussion This study is designed to examine how clinical, psychological factors, socioeconomic circumstances, and healthcare delivery influence the experience of epilepsy for individuals and families allowing better targeting of specific services and informing policy makers and practitioners. In addition, the study will provide the basis for a longitudinal population-based cohort study and potentially inform qualitative sub-studies and randomised controlled trials of intervention strategies. The study has
Wight, Jenny E; Nguyen, Viet-Huong; Medina, Marco T; Patterson, Christopher; Durón, Reyna M; Molina, Yolly; Lin, Yu-Chen; Martínez-Juárez, Iris E; Ochoa, Adriana; Jara-Prado, Aurelio; Tanaka, Miyabi; Bai, Dongsheng; Aftab, Sumaya; Bailey, Julia N; Delgado-Escueta, Antonio V
Juvenile myoclonic epilepsy (JME), the most common genetic epilepsy, remains enigmatic because it is considered one disease instead of several diseases. We ascertained three large multigenerational/multiplex JME pedigrees from Honduras with differing JME subsyndromes, including Childhood Absence Epilepsy evolving to JME (CAE/JME; pedigree 1), JME with adolescent onset pyknoleptic absence (JME/pA; pedigree 2), and classic JME (cJME; pedigree 3). All phenotypes were validated, including symptomatic persons with various epilepsies, asymptomatic persons with EEG 3.5-6.0 Hz polyspike waves, and asymptomatic persons with normal EEGs. Two-point parametric linkage analyses were performed with 5185 single-nucleotide polymorphisms on individual pedigrees and pooled pedigrees using four diagnostic models based on epilepsy/EEG diagnoses. Haplotype analyses of the entire genome were also performed for each individual. In pedigree 1, haplotyping identified a 34 cM region in 2q21.2-q31.1 cosegregating with all affected members, an area close to 2q14.3 identified by linkage (Z max = 1.77; pedigree 1). In pedigree 2, linkage and haplotyping identified a 44 cM cosegregating region in 13q13.3-q31.2 (Z max = 3.50 at 13q31.1; pooled pedigrees). In pedigree 3, haplotyping identified a 6 cM cosegregating region in 17q12. Possible cosegregation was also identified in 13q14.2 and 1q32 in pedigree 3, although this could not be definitively confirmed due to the presence of uninformative markers in key individuals. Differing chromosome regions identified in specific JME subsyndromes may contain separate JME disease-causing genes, favoring the concept of JME as several distinct diseases. Whole-exome sequencing will likely identify a CAE/JME gene in 2q21.2-2q31.1, a JME/pA gene in 13q13.3-q31.2, and a cJME gene in 17q12. PMID:27066514
The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora disease, several forms of neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers [MERRF], and type 1 and 2 sialidoses) have been identified. The prognosis of a PME depends on the specific disease. Lafora disease, the neuronal ceroid lipofuscinoses, and the neuronopathic form of Gaucher disease have an invariably fatal course. In contrast, Unverricht-Lundborg disease has a much slower progression, and with adequate care many patients have a normal life span. The specific diseases that cause PME are diagnosed by recognition of their age of onset, the associated clinical symptoms, the clinical course, the pattern of inheritance, and by special investigations such as enzyme measurement, skin/muscle biopsy, or gene testing. PMID:26060909
Epilepsy is one of the most common neurological disorders. Global neurological knowledge is essential for differential diagnosis of epileptic syndromes due to the diversity of ictal semiology, causes and syndromes. Neurologists play an important role in planning the medical care for patients with epilepsy, as medication is the most fundamental therapeutic strategy. Some patients with early-onset epilepsy require joint care by pediatric neurologists, those with intractable epilepsy by neurosurgeons, and those with psychological comorbidity by psychiatrists, and neurologists should play a coordinating role. While there is a great need for neurologists to participate in epilepsy care, neurologists in Japan currently do not participate substantially in the epilepsy management system. It is necessary to train more neurologists who can provide epilepsy care and conduct basic and clinical research on epilepsy by providing continuous education on epilepsy for general neurologists as well as pre- and post-graduate medical students. Most of the patients who require long-term treatment experience many medical problems and social handicaps, such as adverse effects of medication, social stigma, educational disadvantages and difficulties in obtaining driver's license. To improve the quality of life of patients with epilepsy, it is desirable to build broad medical-social networks participated by patients, doctors, neurological nurses, psychologists, social workers, school teachers, managers of employment support facilities and care givers. PMID:24018740
Davis, Shanlee M.; Katusic, Slavica K.; Barbaresi, William J.; Killian, Jill; Weaver, Amy L.; Ottman, Ruth; Wirrell, Elaine C.
Prior studies suggest a higher incidence of symptoms of attention-deficit/hyperactivity disorder in children with epilepsy, but few have investigated epilepsy in children with attention-deficit/hyperactivity disorder. Our objective was to compare the incidence and characteristics of epilepsy among population-based, research identified cohorts of children with (N=358) and without attention-deficit/hyperactivity disorder (N=728), based on medical record review to age 20. Data abstracted include...
Memarian, N; Thompson, PM; Engel, J.; Staba, RJ
Mesial temporal lobe epilepsy (MTLE) is the most common of the surgically remediable drug-resistant epilepsies. MRI is the primary diagnostic tool to detect anatomical abnormalities and, when combined with EEG, can more accurately identify an epileptogenic lesion, which is often hippocampal sclerosis in cases of MTLE. As structural imaging technology has advanced the surgical treatment of MTLE and other lesional epilepsies, so too have the analysis techniques that are used to measure differen...
Eli Shahar; Jacob Genizi
Background: Prediction of the long-term outcomes of childhood-onset epilepsy remains crucial for the future well-being of the affected children and their families and for planning proper therapeutic and educational programs. Objective: To identify and analyze the early predictive factors of seizure control in childhood-onset epilepsies referred at the age of 1 month up to the age of 18 years to the Epilepsy Service at the Meyer Children Hospital, Rambam Medical Center, Haifa, Israel. Materia...
Syeda, Afsarunnesa; Karim, Md. Rezaul
Objective: Petit mal epilepsy or absence seizures involve brief, sudden lapses of consciousness and most often occurs in people under age of 20 years. This study was done to find out the most likely significant age affected by petit mal epilepsy and whether they had higher rate of behavioral, educational, and social problems. Materials and Methods: We run tests on total 32 patients (male 16 and female 16) from newborns to 20 years of age. Results: The most affected ages were from 4 to 9 years and both genders were equally affected. They have higher rate of behavioral, educational, and social problems, and most likely recovering ages from the disease were from 15 to 20 years. Conclusion: These findings could contribute in diagnosis and treatment of Petit Mal Epilepsy, as it often misinterpreted as daydreaming or inattention.
Full Text Available ... are often distributed throughout the brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general neurologist can treat uncomplicated epilepsy ...
Full Text Available ... an epilepsy surgery program. Dietary Therapy: The ketogenic diet is a diet that is high in fat content and low ... treating epilepsy in some individuals with epilepsy. This diet is more often used for children rather than ...
Full Text Available The association of epilepsy and psychosis is studied. Among the 500 patients of epilepsy evaluated, there were 12 patients, 8 males and 4 females with epilepsy-related psychosis. Their average age was 38 years. The interval between the age of onset of epilepsy and psychotic features was 9 years. Complex partial seizures were present in 7 patients and primary generalized tonic-clonic seizure was present in 1 patient. Four patients had post-ictal psychosis, 7 had acute interictal psychosis and 1 patient had chronic psychosis. The inter-ictal and chronic psychoses were schizophreniform whereas the post-ictal psychoses were not. EEG showed a temporal focus in 7 patients with complex partial seizures and an extra-temporal focus was identified in 4 out of the other 5 patients. Imaging (CT scan/MRI revealed abnormalities in 10 patients. This study attempts to define the characteristics of psychoses occurring in epileptics.
Owczarek, K; Jędrzejczak, J
Epileptic seizures have been known from time immemorial. Throughout the ages, however, ideas concerning the aetiology and treatment of epilepsy have changed considerably. Epilepsy is mentioned many times in the Pentateuch, where it is portrayed as a mysterious condition, whose symptoms, course and contingencies evade rational laws and explanations. In the Middle Ages, the accepted view which prevailed in social consciousness was that patients with epilepsy were possessed by Satan and other impure spirits. One common method of treatment of epileptic seizures was to submit the patient to cruel exorcisms. Patients were frequently injured in the process and some of them even died. Our understanding of epilepsy and its social consequences has improved considerably within the last century. The most significant progress as far as diagnosis and treatment of epilepsy is concerned took place in the last four decades of the twentieth century. Although we now know much more about epilepsy than we used to, this knowledge is still insufficiently popularized. PMID:23821425
Jović Nebojša J.
Full Text Available Introduction. Subacute sclerosing panencephalitis (SSPE is a rare, progressive, fatal neurodegenerative disease of childhood and early adolescence caused by defective measles virus. The initial symptoms of SSPE usually involve regression in cognitive functioning and behavior or recurrent myoclonic jerks. Seizures revealing SSPE and epilepsy during the clinical course can occur. Objective. The aim of the study was to analyze clinical and EEG characteristics of both initially occurred seizures and epilepsy which developed in the course of the disease. Methods. Retrospective study was carried out on 19 children (14 boys, 5 girls with SSPE diagnosed and treated at our Clinic from 1995 to 2010. Seizures revealed SSPE in our patients aged from 6.5 to 11.5 years (mean 8.6 years. Results. SSPE onset ranged from 4.5 to 16.5 years (mean 10.05. Complete vaccination was performed in nine patients. Cognitive and behavioral decline was preceeded by 6-18 months in two children with intractable focal motor seizures with secondary generalization, one child with complex partial seizures and one with atypical absences. During the clinical course of the disease epilepsy developed in 10 (52.6% cases, including four patients with seizures as the initial SSPE sign. It occurred mainly in the first year, while in three cases seizures appeared between 1 and 5 years of the disease evolution. Myoclonus was present independently from seizures. No significant inter-group differences were found relating to the type of SSPE progression and history of epilepsy. The only child with fulminant SSPE presented with initial seizures. Favorable seizure control was achieved in 60.0% patients. Intractable epilepsy developed in four patients. Conclusion. Atypical SSPE presentation can include mainly focal intractable seizures. Epilepsy developed during clinical course in 52.6% cases. No significant influence was found of the history of epilepsy on the type of SSPE progression.
Campen, J.S. van
Epilepsy is one of the most common chronic diseases in childhood, characterized by the enduring predisposition to generate epileptic seizures. Children with epilepsy and their parents often report seizures precipitated by stress. In order to increase our understanding of the pathophysiological mechanisms underlying the effects of stress on seizures in childhood epilepsy, we performed a variety of studies, which are described in this thesis. In part I we evaluate the extent of stress sensitivi...
Full Text Available ... since the tubers are often distributed throughout the brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general ...
Olson, Heather; Shen, Yiping; Avallone, Jennifer; Sheidley, Beth R.; Pinsky, Rebecca; Bergin, Ann M.; Berry, Gerard T.; Duffy, Frank H.; Eksioglu, Yaman; Harris, David J.; Hisama, Fuki M.; Ho, Eugenia; Irons, Mira; Jacobsen, Christina M.; James, Philip; Kothare, Sanjeev; Khwaja, Omar; Lipton, Jonathan; Loddenkemper, Tobias; Markowitz, Jennifer; Maski, Kiran; Megerian, J. Thomas; Neilan, Edward; Raffalli, Peter C.; Robbins, Michael; Roberts, Amy; Roe, Eugene; Rollins, Caitlin; Sahin, Mustafa; Sarco, Dean; Schonwald, Alison; Smith, Sharon E.; Soul, Janet; Stoler, Joan M.; Takeoka, Masanori; Tan, Wen-Han; Torres, Alcy R.; Tsai, Peter; Urion, David K.; Weissman, Laura; Wolff, Robert; Wu, Bai-Lin; Miller, David T.; Poduri, Annapurna
Objective To evaluate the role of copy number abnormalities detectable by chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center. Methods We identified patients with ICD-9 codes for epilepsy or seizures and clinical CMA testing performed between October 2006 and February 2011 at Boston Children’s Hospital. We reviewed medical records and included patients meeting criteria for epilepsy. We phenotypically characterized patients with epilepsy-associated abnormalities on CMA. Results Of 973 patients who had CMA and ICD-9 codes for epilepsy or seizures, 805 patients satisfied criteria for epilepsy. We observed 437 copy number variants (CNVs) in 323 patients (1–4 per patient), including 185 (42%) deletions and 252 (58%) duplications. Forty (9%) were confirmed de novo, 186 (43%) were inherited, and parental data were unavailable for 211 (48%). Excluding full chromosome trisomies, CNV size ranged from 18 kb to 142 Mb, and 34% were over 500 kb. In at least 40 cases (5%), the epilepsy phenotype was explained by a CNV, including 29 patients with epilepsy-associated syndromes and 11 with likely disease-associated CNVs involving epilepsy genes or “hotspots.” We observed numerous recurrent CNVs including 10 involving loss or gain of Xp22.31, a region described in patients with and without epilepsy. Interpretation Copy number abnormalities play an important role in patients with epilepsy. Given that the diagnostic yield of CMA for epilepsy patients is similar to the yield in autism spectrum disorders and in prenatal diagnosis, for which published guidelines recommend testing with CMA, we recommend the implementation of CMA in the evaluation of unexplained epilepsy. PMID:24811917
Nandanavana Subbareddy Santhosh
Full Text Available There are 50 million people living with epilepsy worldwide, and most of them reside in developing countries. About 10 million persons with epilepsy are there in India. Many people with active epilepsy do not receive appropriate treatment for their condition, leading to large treatment gap. The lack of knowledge of antiepileptic drugs, poverty, cultural beliefs, stigma, poor health infrastructure, and shortage of trained professionals contribute for the treatment gap. Infectious diseases play an important role in seizures and long-term burden causing both new-onset epilepsy and status epilepticus. Proper education and appropriate health care services can make tremendous change in a country like India. There have been many original researches in various aspects of epilepsy across India. Some of the geographically specific epilepsies occur only in certain regions of our country which have been highlighted by authors. Even the pre-surgical evaluation and epilepsy surgery in patients with drug-resistant epilepsy is available in many centers in our country. This article attempts to provide a complete preview of epilepsy in India.
Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M;
deletion. Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence seizures.European Journal of Human Genetics advance online publication, 29 June 2016; doi:10.1038/ejhg.2016.80.......Genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, is the most common form of epilepsy and is thought to have predominant genetic etiology. GGE are clinically characterized by absence, myoclonic, or generalized tonic-clonic seizures with electroencephalographic...... pattern of bilateral, synchronous, and symmetrical spike-and-wave discharges. Despite their strong heritability, the genetic basis of generalized epilepsies remains largely elusive. Nevertheless, recent advances in genetic technology have led to the identification of numerous genes and genomic defects in...
Sunil Kumar Raina
Full Text Available Objective. To determine the contribution of neurocysticercosis as a cause for active epilepsy and to establish Neurocysticercosis as major definable risk of epilepsy in our setup. Methods. We conducted a door-to-door survey of 2,209 individuals of Bhore Pind and Bhore Kullian villages in Chattah zone of district Jammu (Jumma and Kashmir, Northwest India to identify patients with symptomatic epilepsy. Patients with active epilepsy were investigated with neuroimaging techniques to establish diagnosis of NCC (neurocysticercosis. Results. Among 25 patients with epilepsy 10(40% had CT/MR evidence of past or recent NCC infection. This gave us the point prevalence of 4.5/1000 for Neurocysticercosis in our study population. Interpretation. The study shows a high prevalence of NCC accounting for symptomatic epilepsy in our part of India.
Hülsmeyer, Velia-Isabel; Fischer, Andrea; Mandigers, Paul J. J.; DeRisio, Luisa; Berendt, Mette; Rusbridge, Clare; Bhatti, Sofie F. M.; Pakozdy, Akos; Patterson, Edward E.; Platt, Simon; Packer, Rowena M. A.; Volk, Holger A.
Canine idiopathic epilepsy is a common neurological disease affecting both purebred and crossbred dogs. Various breed-specific cohort, epidemiological and genetic studies have been conducted to date, which all improved our knowledge and general understanding of canine idiopathic epilepsy, and in...... the dog with epilepsy in everyday clinical practice and furthermore may promote canine epilepsy research. The following manuscript reviews the evidence available for breeds which have been identified as being predisposed to idiopathic epilepsy with a proven or suspected genetic background, and...... highlights different breed specific clinical features (e.g. age at onset, sex, seizure type), treatment response, prevalence rates and proposed inheritance reported in the literature. In addition, certain breed-specific diseases that may act as potential differentials for idiopathic epilepsy are highlighted....
Vlaskamp, D.R.M.; Callenbach, P.M.C.; Rump, P.; Van Ravenswaaij-Arts, C.M.A.; Brouwer, O.F.
Purpose: Copy number variants (CVNs), detected with chromosomal microarray, have been shown to cause or predispose to epilepsy. We aimed to evaluate the diagnostic yield of microarray in a large cohort of children with epilepsy and to identify novel genes and regions for epilepsy. Method: From a sin
Cuccaro, Michael L.; Tuchman, Roberto F.; Hamilton, Kara L.; Wright, Harry H.; Abramson, Ruth K.; Haines, Jonathan L.; Gilbert, John R.; Pericak-Vance, Margaret
Epilepsy co-occurs frequently in autism spectrum disorders (ASD). Understanding this co-occurrence requires a better understanding of the ASD-epilepsy phenotype (or phenotypes). To address this, we conducted latent class cluster analysis (LCCA) on an ASD dataset (N = 577) which included 64 individuals with epilepsy. We identified a 5-cluster…
Ladino, Lady Diana; Téllez-Zenteno, José Francisco
Epilepsy has afflicted humanity during most of the extent of documented history. The Aztecs believed that illnesses were punishments that were sent from a furious goddess. In particular, epilepsy was considered in Aztec culture as a "sacred disease", and convulsions were traditionally associated with a deified woman who had died at childbirth. As the goddess Shiva and Apasmâra in ancient India and Saint Valentine in Germany, Tlazolteotl was considered able to bring about and send away epilepsy. We performed a comprehensive review to identify Tlazolteotl depictions and its historical context related with epilepsy. Tlazolteotl is one of the most endearing and complex goddesses of the Mesoamericans. She was the deity of the black fertile and fecund earth that gains its energy from death and in turn feeds life. Associated with purification, expiation, and regeneration, she embodied fertility and turned all garbage, physical and metaphysical, into rich life. This article reviews the most relevant artistic works related with Tlazolteotl. We also present a modern depiction of the Aztec goddess of epilepsy from the Mexican artist Eduardo Urbano Merino, displaying the supernatural view of epilepsy in America. PMID:26921600
Background: Epilepsy is a disorder that is commonly found in people with intellectual disability (ID). The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ) and epilepsy in children with ID. Materials and Methods: A total of 262 children, aged 3-18 years, with ID were identified as part of a community-based rehabilitation project. These children were examined for epilepsy and dia...
Lopes-Cendes, I.; Scheffer, I E.; Berkovic, S F; Rousseau, M.; Andermann, E.; Rouleau, G. A.
Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individuals, to localize the gene causing epilepsy in a large family segregating an autosomal dominant form of GEFS+. A genomewide search examining 197 markers identified linkage of GEFS+ to chromosome 2, on the basis of an initial positive LOD score for ma...
Seppälä, Eija H.; Koskinen, Lotta L. E.; Gulløv, Christina H.; Päivi Jokinen; Peter Karlskov-Mortensen; Luciana Bergamasco; Izabella Baranowska Körberg; Sigitas Cizinauskas; Oberbauer, Anita M.; Mette Berendt; Merete Fredholm; Hannes Lohi
Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up to 20% in particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may be classified as focal with or without secondary generalization, or as primary generalized. Nine genes have been identified for symptomatic (storage diseases) and one for idiopathic epilepsy in different breeds. However, the genetic background of common canine epilepsi...
Yin, Zhongmin; Dong, Yushu; Zhang, Jiyang; Wang, Li
OBJECTIVE: To identify global research trends in the use of stem cell transplantation to treat epilepsy. DATA RETRIEVAL: We performed a bibliometric analysis of studies on the use of stem cell transplantation to treat epilepsy during 2002–2011, retrieved from Web of Science, using the key words epilepsy or epileptic or epilepticus or seizure and “stem cell”. SELECTION CRITERIA: Inclusion criteria: (a) peer-reviewed published articles on the use of stem cell transplantation to treat epilepsy i...
Full Text Available This study has focused on the interplay between epilepsy and religion. A total of 100 patients in the age range of 15-84 years were included in the study. The duration of epilepsy in these patients ranged from 1-35 years. The majority (66% had generalized seizures and good to complete seizure control (77%. Regarding social/religious beliefs, 6% of the patients attributed their epilepsy to the curse of God and 14% saw their affliction as a form of punishment for bad deeds committed in the current or past life. Epilepsy was regarded as contagious by 13%. After the onset of epilepsy, 7% of the subjects became skeptics and less religious, while 29% became more religious. Only 2% reported mystic experiences. There was, however, no significant impact of the duration of epilepsy or seizure type on the pattern of religiosity. In 44 cases with symptomatic epilepsy, no definite correlation was observed between the lesion site and laterality and the religious temperament. Delay in seeking treatment and poor compliance due to false religious beliefs, ignorance, and superstition was observed in 33%. However, all religious beliefs were not maladaptive and overall, 80% cases felt that religion had helped them in coping with epilepsy.
Jacobsen, Pernille Endrup; Haubek, Dorte; Østergaard, John Rosendahl
Risiko for sygdom I mundhulen hos patienter med epilepsy Epilepsi er en kronisk neurologisk lidelse, der ofte vil kræve medicinsk behandling for at holde patienterne fri for anfald. Lidelsen kan have betydning for patientens psykosociale og kognitive udvikling, der indirekte kan have betydning for...
Epilepsy is a heterogeneous clinical condition characterized by recurrent unprovoked seizures, their causes and complications. The incidence, prevalence and mortality of epilepsy vary with age, place and time contributing to a variable extent to the burden of the disease. Diagnostic misclassification may have strong impact on personal and societal reflections of the disease in light of its clinical manifestations and the need for chronic treatment. Epilepsy accounts for a significant proportion of the world's disease burden ranking fourth after tension-type headache, migraine and Alzheimer disease. Among neurological diseases, it accounts for the highest disability-adjusted life year rates both in men and in women. Although epilepsy is self-remitting in up to 50% of cases, variable long-term prognostic patterns can be identified based on the response to the available treatments. Epilepsy carries an overall increased risk of premature mortality with variable estimates across countries. Premature mortality predominates in patients aged less than 50 years, with epilepsies due to structural/metabolic conditions, with generalized tonic-clonic seizures, and seizures not remitting under treatment. Among deaths directly attributable to epilepsy or seizures, included are sudden unexpected death in epilepsy (SUDEP), status epilepticus, accidents, drowning, unintentional injuries, and suicide. Somatic and psychiatric disorders prevail in patients with epilepsy than in people without epilepsy. Asthma, migraine and cerebral tumors tend to occur more frequently in younger adults while cardiovascular disorders, stroke, dementia and meningioma predominate in the elderly. As being a fairly common clinical condition affecting all ages and requiring long-term (sometimes lifelong) treatment, epilepsy carries high health care costs for the society. Direct costs peak in the first year after diagnosis and then vary according to the severity of the disease, the response to treatment, and
Enatsu, Rei; Mikuni, Nobuhiro
Invasive evaluations play important roles in identifying epileptogenic zones and functional areas in patients with intractable focal epilepsy. This article reviews the usefulness, methods, and limitations of invasive evaluations for epilepsy surgery. Invasive evaluations include various types of intracranial electrodes such as stereotactically implanted intracranial depth electrodes (stereo-EEG), chronic subdural electrodes, and intraoperative electrocorticography. Scalp EEG is distorted by t...
Correct localization of epileptogenic zone is important for the successful epilepsy surgery. Both ictal perfusion single photon emission computed tomography (SPECT) and interictal F-18 fluorodeoxyglucose positron emission tomography (FDG-PET) can provide useful information in the presurgical localization of intractable partial epilepsy. These imaging modalities have excellent diagnostic sensitivity in medial temporal lobe epilepsy and provide good presurgical information in neocortical epilepsy. Also provide functional information about cellular functions to better understand the neurobiology of epilepsy and to better define the ictal onset zone, symptomatogenic zone, propagation pathways, functional deficit zone and surround inhibition zones. Multimodality imaging and developments in analysis methods of ictal perfusion SPECT and new PET ligand other than FDG help to better define the localization
Zubkov, Sarah; Friedman, Daniel
Creativity can be defined as the ability to understand, develop, and express, in a systematic fashion, novel orderly relationships. It is sometimes difficult to separate cognitive skills requisite for the creative process from the drive that generates unique new ideas and associations. Epilepsy itself may affect the creative process. The treatment of epilepsy and its comorbidities, by altering or disrupting the same neural networks through antiseizure drugs (ASDs), treatment of epilepsy comorbidities, ablative surgery, or neurostimulation may also affect creativity. In this review, we discuss the potential mechanisms by which treatment can influence the creative process and review the literature on the consequences of therapy on different aspects of creativity in people with epilepsy. This article is part of a Special Issue entitled "Epilepsy, Art, and Creativity". PMID:26831642
Marcos H. C. Duran
Full Text Available Our aim was to clarify the correlation of attention deficit hyperactivity disorder (ADHD with epilepsy and behavior problems. This was a cross-sectional study. Sixty children with idiopathic epilepsy were interviewed using the MTA-SNAP IV Teacher and Parent Rating Scale, Vineland Adaptive Behavior Scales and Conners’ Rating Scales. We used the chi-square test to analyze the correlation of epilepsy variables in patients with and without ADHD with a significance level of 0.05. Eight patients had ADHD symptoms (13%, seven had the inattentive ADHD subtype and only three had behavioral problems. When epileptic patients with and without ADHD symptoms were compared we found no significant difference in regard to epilepsy variables. All patients were controlled and 43% were either without AED or undergoing withdrawal. Our study revealed a low comorbidity of ADHD symptoms and epilepsy due to low interference of seizures and drug treatment on the comorbid condition.
Olsen, T S; Høgenhaven, H; Thage, O
Development of epilepsy was studied prospectively in a group of 77 consecutive stroke patients. Included were stroke patients less than 75 years old admitted within the first 3 days after the stroke. Excluded were patients with subarachnoid hemorrhage, vertebrobasilar stroke, and patients with...... other severe diseases. Cerebral angiography, CT, and EEG were performed in all patients. The patients were followed clinically for 2 to 4 years. Seven patients (9%) developed epilepsy. Of 23 patients with lesions involving the cortex, 6 (26%) developed epilepsy. Of 54 patients in whom the cortex was not...... involved, only 1 (2%) developed epilepsy. Patients with persisting paresis and cortical involvement seem to be at particularly high risk of developing epilepsy, as 50% of such patients (6 of 12) developed the disease....
Pitkänen, Asla; Löscher, Wolfgang; Vezzani, Annamaria; Becker, Albert J; Simonato, Michele; Lukasiuk, Katarzyna; Gröhn, Olli; Bankstahl, Jens P; Friedman, Alon; Aronica, Eleonora; Gorter, Jan A; Ravizza, Teresa; Sisodiya, Sanjay M; Kokaia, Merab; Beck, Heinz
Over 50 million people worldwide have epilepsy. In nearly 30% of these cases, epilepsy remains unsatisfactorily controlled despite the availability of over 20 antiepileptic drugs. Moreover, no treatments exist to prevent the development of epilepsy in those at risk, despite an increasing understanding of the underlying molecular and cellular pathways. One of the major factors that have impeded rapid progress in these areas is the complex and multifactorial nature of epilepsy, and its heterogeneity. Therefore, the vision of developing targeted treatments for epilepsy relies upon the development of biomarkers that allow individually tailored treatment. Biomarkers for epilepsy typically fall into two broad categories: diagnostic biomarkers, which provide information on the clinical status of, and potentially the sensitivity to, specific treatments, and prognostic biomarkers, which allow prediction of future clinical features, such as the speed of progression, severity of epilepsy, development of comorbidities, or prediction of remission or cure. Prognostic biomarkers are of particular importance because they could be used to identify which patients will develop epilepsy and which might benefit from preventive treatments. Biomarker research faces several challenges; however, biomarkers could substantially improve the management of people with epilepsy and could lead to prevention in the right person at the right time, rather than just symptomatic treatment. PMID:27302363
Azizova Rano Bakhodirovna
Symptomatic and idiopathic forms of epilepsy have several differences in neural psychological values. The most expressed cognitive deficit in the form of cognitive disorders is characteristic for patients with symptomatic epilepsy. The absence of inter-hemisphere asymmetry of P300 wave amplitude was revealed in cases of idiopathic and symptomatic forms, indicating functional disorders.
Tuft, Mia; Gjelsvik, Bergljot; Nakken, Karl O
In "Epilepsy is Dancing", in Antony and the Johnsons' album "The Crying Light"(2009), the lyrics and accompanying music video depicts an epileptic seizure in which the person is transferred to another beautiful and magical world. This may be called "enchanted epilepsy"; i.e., the experience of epilepsy as deeply nourishing and (positively) transforming, is conveyed not only in the lyrics but also the visual and auditory qualities of the video. The seizure in the video gives associations to Shakespeare's "A Midsummer Night's dream". If epilepsy appears in music lyrics, the focus is mostly on negative aspects of the illness, such as horror, fear and repulsive sexuality associated with the fits [1,2]. Contradictory to these lyrics, Anthony and the Johnsons' song is an example of a positive portrayal of epilepsy. It is open to a multitude of meanings, emotional valence and appraisal of epilepsy. By widening the experiential range associated with epileptic seizures, these lyrics highlight the inherently construed nature of epileptic experience. The song stands out in several ways. First, it describes epilepsy in positive terms, prioritising the euphoric, ecstatic, potentially empowering and enhancing aspects of epileptic seizures. Second, the lyrics and accompanying video point to divine experiences associated with epileptic seizures. Through the lyrics and the music video we are, as an audience, able to sense a snicket of an epileptic seizure, but also the universal experience of loosing control. PMID:26398488
Mitochondrial respiratory chain disorders are relatively common inborn errors of energy metabolism, with a combined prevalence of one in 5000. These disorders typically affect tissues with high energy requirements, and cerebral involvement occurs frequently in childhood, often manifesting in seizures. Mitochondrial diseases are genetically heterogeneous; to date, mutations have been reported in all 37 mitochondrially encoded genes and more than 80 nuclear genes. The major genetic causes of mitochondrial epilepsy are mitochondrial DNA mutations (including those typically associated with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS] and myoclonic epilepsy with ragged red fibres [MERRF] syndromes); mutations in POLG (classically associated with Alpers syndrome but also presenting as the mitochondrial recessive ataxia syndrome [MIRAS], spinocerebellar ataxia with epilepsy [SCAE], and myoclonus, epilepsy, myopathy, sensory ataxia [MEMSA] syndromes in older individuals) and other disorders of mitochondrial DNA maintenance; complex I deficiency; disorders of coenzyme Q(10) biosynthesis; and disorders of mitochondrial translation such as RARS2 mutations. It is not clear why some genetic defects, but not others, are particularly associated with seizures. Epilepsy may be the presenting feature of mitochondrial disease but is often part of a multisystem clinical presentation. Mitochondrial epilepsy may be very difficult to manage, and is often a poor prognostic feature. At present there are no curative treatments for mitochondrial disease. Individuals with mitochondrial epilepsy are frequently prescribed multiple anticonvulsants, and the role of vitamins and other nutritional supplements and the ketogenic diet remain unproven. PMID:22283595
Stanojlović Olivera P.
Full Text Available Introduction An epileptic seizure is a clinical event and epilepsy is rather a group of symptoms than a disease. The main features all epilepsies have in common include: spontaneous occurrence, repetitiveness, and ictal correlation within the EEG. Epilepsies are manifested with distinct EEG changes, requiring exact clinical definition and consequential treatment. Current data show that 1% of the world's population (approximately 50 million people suffers from epilepsy, with 25% of patients being refractory to therapy and requiring search for new substances in order to decrease EEG and behavioral manifestations of epilepsies. Material and methods In regard to discovery and testing of anticonvulsant substances the best results were achieved by implementation of experi- mental models. Animal models of epilepsy are useful in acquiring basic knowledge regarding pathogenesis, neurotransmitters (glutamate, receptors (NMDA/AMPA/kainate, propagation of epileptic seizures and preclinical assessment of antiepileptics (competitive and non-competitive NMDA antagonists. Results and conclusions In our lab, we have developed a pharmacologic model of a (metaphit, NMDA and remacemide-cilastatin generalized, reflex, and audiogenic epilepsy. The model is suitable for testing various anticonvulsant substances (e.g. APH, APV, CPP, Mk-801 and potential antiepileptics (e.g. DSIP, its tetra- and octaanalogues.
O'Toole, S; Benson, A; Lambert, V; Gallagher, P; Shahwan, A; Austin, J K
In childhood chronic illness, family communication can impact the child's and parents' psychosocial well-being. However, little is known about family communication in the context of epilepsy in childhood. The aim of this systematic review was to identify the existing evidence available on communication strategies adopted by families living with childhood epilepsy, including; the facilitators, barriers and challenges experienced by families when choosing to communicate, or not, about epilepsy; and the consequences of this communication. Papers published in the English language prior to March 2015 were identified following a search of six electronic databases: PubMed, MEDLINE, Web of Science, PsycINFO, CINAHL, and Scopus. Studies were included if they involved a sample of parents of children with epilepsy or children/young people with epilepsy (0-18years of age) and used qualitative, quantitative, or mixed methods. Following a comprehensive search and screening process, 26 studies were identified as eligible for inclusion in the review. No studies identified specific communication strategies adopted by families living with childhood epilepsy. Some studies found that talking about epilepsy with family members had positive consequences (e.g., communication as an effective coping strategy), with no negative consequences reported in any of the studies. The main barrier to communication for parents was an unwillingness to use the word "epilepsy" because of the perceived negative social connotations associated with the health condition. For children with epilepsy, barriers were as follows: parental desire to keep epilepsy a secret, parents' tendency to deny that the child had epilepsy, parental overprotection, and parents' tendency to impose greater restrictions on the child with epilepsy than on siblings without epilepsy. Future research investigating the communication strategies of families living with epilepsy is needed in order to create effective communication
Bindoff, Laurence A; Engelsen, Bernt A
The mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus. This review summarizes our current understanding of the epilepsy that occurs in mitochondrial disease, focusing on three of the most common disorders: mitochondrial myopathy encephalopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonus epilepsy and ragged-red fibers (MERRF), and polymerase gamma (POLG) related disease. In addition, we review the pathogenesis and possible treatment of these disorders. PMID:22946726
Betting, Luiz Eduardo; Mory, Susana Barreto; Lopes-Cendes, Iscia; Li, Li Min; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando
The interaction between thalamus and cortex appears to be critical to the pathophysiology of idiopathic generalized epilepsies (IGEs). The objective of this study was to investigate thalamic volumes of a group of patients with IGEs using high-resolution MRI. Thalamic segmentation was performed by the same rater, who was unaware of the diagnosis. Thalamic volumes were divided into anterior half and posterior half. One hundred forty-seven patients were scanned (71 with juvenile myoclonic epilepsy, 49 with generalized tonic-clonic seizures only, and 27 with absence epilepsy). Subgroup analyses with corrections for multiple comparisons showed that, when compared with those of controls, anterior thalamic volumes were increased in patients with absence epilepsy and juvenile myoclonic epilepsy with absence seizures, but not in patients with generalized tonic-clonic seizures only and juvenile myoclonic epilepsy without absence seizures. Our results demonstrated that the anterior thalamus is structurally different in patients with IGEs and absence seizures as compared with patients with IGEs without absence seizures. PMID:16530016
Langan, Y.; Nashef, L; Sander, J
Methods: All 1997 death entries mentioning epilepsy as a cause of death in those 16–50 years were examined and classified as sudden unexpected death in epilepsy (SUDEP), other epilepsy related deaths, or non-epilepsy deaths.
absence is best prevented. Sample: Fieldwork was conducted at a vocational school containing 850 students. In this particular study, 24 student interviews were used in combination with interviews from four teachers and three school managers. Design and methods: The study is an ethnographic case study of a...... single school conducted over a continuous six-month period. It used participant observation followed by semi-structured interviews and school documents. Results: Findings suggest that student absence consists of interrelated forms of absence behaviour that have specific consequences for student...... the social practice of students, teachers and school managers. Evaluations of both absence from class and absence in class are important for understanding how absence behaviour can be identified and prevented....
Loring, David W; Hermann, Bruce P; Cohen, Morris J
Neuropsychologists are in a unique position to be active advocates for patients with epilepsy given their unique understanding of the behavioral and cognitive effects associated the disease, its progression, and its treatment. Neuropsychologists communicate the cognitive and behavioral consequences of epilepsy and its long-term implications to patients, family, school, and employers. In this article we review factors influencing the neuropsychological profile of patients with epilepsy, and discuss common behavioral comorbidities, as well as special issues associated with school placement and long-term planning. We also include a seizure action plan, which is designed to be both an educational tool for individuals with limited epilepsy knowledge, and a way to minimize stigma associated with an event should a seizure occur during school or work. PMID:19214828
J Gordon Millichap
The role of viral meningitis in the cause of epilepsy is reviewed by researchers from Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; and University of Malaya, Kuala Lumpur, Malaysia.
Thomas, Sanjeev V.
There are close to one and half million women with epilepsy (WWE) in reproductive age group in India. WWE have several unique gender-specific problems in the biological and social domains. Women experience more social stigma from epilepsy and have more difficulty with education and employment. They have more difficulty to get married and sustain successful family life. Reproductive hormones like estrogen and progesterone have opposing effect on seizure threshold. WWE have increased risk of in...
Introduction. Cerebral palsy is the most common cause of physical disability in early childhood. Epilepsy is known to have a high association with cerebral palsy. All types of epileptic seizures can be seen in patients with cerebral palsy. Complex partial and secondary generalized ones are the most frequent seizure types. In persons with cerebral palsy and mental retardation, the diagnosis of epilepsy presents unique difficulties. Generally they are not able to describe the epileptic ev...
Murthy, S.R.N.; Shenoy, Raghuram
The authors present in this paper the status of treatment and cause of epilepsy. They propose further research to be undertaken to document the data and a study of human magnetic aura followed by blood spectral studies. They have suggested that based upon these studies it should be possible to determine the cause of epilepsy and its treatment by the physical application of suitable precious and semi-previous stones followed by administration of Ayurvedic formulation.
Gulati, Sheffali; Yoganathan, Sangeetha; Chakrabarty, Biswaroop
Epilepsy is defined as two or more unprovoked seizures. Epileptic patients have intellectual disability and behavioral co-morbidities to the tune of up to 25 and 75% respectively. Various factors like underlying etiology, socioeconomic environment at home, age at onset, seizure semiology, seizure descriptors like duration, severity and frequency, therapy related adverse effects secondary to antiepileptic drugs and epilepsy surgery have been implicated for the causation of cognitive and behavioral impairment in epilepsy. Cognitive epilepsy has emerged as a specific entity. This may manifest as a transient behavioral or cognitive change, insidous onset subacute to chronic encephalopathy or more catastrophic in the form of nonconvulsive status epilepticus. Cognitive impairment seen in epileptic children include difficulties in learning, memory, problem solving as well as concept formation. Anxiety, depression and attention deficit hyperkinetic disorders are the most common psychiatric co-morbidities seen. Investigating a child with epilepsy for cognitive and behavioral impairment is difficult as these tests would require cooperation from the patient's side to a significant extent. A rational approach towards treatment would be judicious selection of antiepileptic drugs, treatment of underlying cause, appropriate management of behavioral co-morbidities including psychopharmacotherapy and a trial of immunotherapy (particularly in cognitive epilepsies), wherever appropriate. PMID:25073691
After having briefly recalled the different studies of epilepsy done on the basis of the Szondi test, the author proposes to study the drive structure of three groups of epileptics (19 cases of primary generalized epilepsy, 18 cases of partial temporal lobe epilepsy, 31 cases of partial non-temporal epilepsy) with the purpose of finding possible differences in psychological drive among the three groups and, at the same time, evaluating the test's capacity for discrimination by using the statistical method. The three groups show the same type of profile generally characterized by an extreme need for acceptance and affection (h + !, C- + !) counteracted by a strong repression (hy - !, k -) resulting in agressiveness (s + !). However, statistical analysis (chi square test), the drive formula, the drive class and the EKP showed that, beyond this shared area, there are differences among the three groups. The author then attempts to sort out the meaning of these differences. Finally, based on certain passages from Szondi as well as the test results, the author puts forward an hypothesis linking the psychological drive problematic in primary generalized epilepsies to a very early disturbance in the history of the individual's psychic development, the origins of which would go back to a split in the unity between mother and child. On the other hand, drive disturbances in partial epilepsies would be considered secondary to the illness. PMID:788602
Full Text Available While there are over one million people with drug-resistant epilepsy in India, today, there are only a handful of centers equipped to undertake presurgical evaluation and epilepsy surgery. The only solution to overcome this large surgical treatment gap is to establish comprehensive epilepsy care centers across the country that are capable of evaluating and selecting the patients for epilepsy surgery with the locally available technology and in a cost-effective manner. The National Epilepsy Surgery Support Activity (NESSA aims to provide proper guidance and support in establishing epilepsy surgery programs across India and in neighboring resource-poor countries, and in sustaining them.
Møller, Rikke Steensbjerre; Heron, Sarah E.; Larsen, Line H. G.; Lim, Chiao Xin; Ricos, Michael G.; Bayly, Marta A.; van Kempen, Marjan J. A.; Klinkenberg, Sylvia; Andrews, Ian; Kelley, Kent; Ronen, Gabriel M.; Callen, David; McMahon, Jacinta M.; Yendle, Simone C.; Carvill, Gemma L.; Mefford, Heather C.; Nabbout, Rima; Poduri, Annapurna; Striano, Pasquale; Baglietto, Maria G.; Zara, Federico; Smith, Nicholas J.; Pridmore, Clair; Gardella, Elena; Nikanorova, Marina; Dahl, Hans Atli; Gellert, Pia; Scheffer, Ingrid E.; Gunning, Boudewijn; Kragh-Olsen, Bente; Dibbens, Leanne M.
Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated...... with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in...... epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI...
Epilepsy-associated stigma in Bolivia: a community-based study among the Guarani population: an International League Against Epilepsy/International Bureau for Epilepsy/World Health Organization Global Campaign Against Epilepsy Regional Project.
Bruno, Elisa; Bartoloni, Alessandro; Sofia, Vito; Rafael, Florentina; Magnelli, Donata; Padilla, Sandra; Quattrocchi, Graziella; Bartalesi, Filippo; Segundo, Higinio; Zappia, Mario; Preux, Pierre-Marie; Nicoletti, Alessandra
Epilepsy is associated with a significant burden of social stigma that appears to be influenced by psychosocial and cultural factors. Stigma has a negative effect on the management of people with epilepsy (PWE), representing one of the major factors that contribute to the burden of epilepsy. To assess stigma perception among the Guarani population, one hundred thirty-two people living in Guaraní communities in Bolivia were invited to complete the Stigma Scale of Epilepsy questionnaire. The main determinants of stigma identified were: the fear linked to loss of control, the feelings of sadness and pity toward PWE, the difficulties faced by PWE in the professional and relationship fields, the level of education and type of seizure. Our study pointed out that, in this population, PWE face difficulties in everyday life because of epilepsy-associated stigma and the results attest to the importance of promoting community-based educational programs aimed at reducing the stigmatization process. PMID:22917806
Li, Jing; Liu, Xianzeng; Ouyang, Gaoxiang
We carried out a series of statistical experiments to explore the utility of using relevance feedback on electroencephalogram (EEG) data to distinguish between different activity states in human absence epilepsy. EEG recordings from 10 patients with absence epilepsy are sampled, filtered, selected, and dissected from seizure-free, preseizure, and seizure phases. A total of 112 two-second 19-channel EEG epochs from 10 patients were selected from each phase. For each epoch, multiscale permutation entropy of the EEG data was calculated. The feature dimensionality was reduced by linear discriminant analysis to obtain a more discriminative and compact representation. Finally, a relevance feedback technique, that is, direct biased discriminant analysis, was applied to 68 randomly selected queries over nine iterations. This study is a first attempt to apply the statistical analysis of relevance feedback to the distinction of different EEG activity states in absence epilepsy. The average precision in the top 10 returned results was 97.5%, and the standard deviation suggested that embedding relevance feedback can effectively distinguish different seizure phases in absence epilepsy. The experimental results indicate that relevance feedback may be an effective tool for the prediction of different activity states in human absence epilepsy. The simultaneous analysis of multichannel EEG signals provides a powerful tool for the exploration of abnormal electrical brain activity in patients with epilepsy. PMID:25245133
Full Text Available An increased prevalence of epilepsy has been reported in many onchocerciasis endemic areas.To determine the prevalence and distribution of epilepsy in an onchocerciasis endemic region in the Democratic Republic of the Congo (DRC.An epilepsy prevalence study was carried out in 2014, in two localities of the Bas-Uélé district, an onchocerciasis endemic region in the Orientale Province of the DRC. Risk factors for epilepsy were identified using a random effects logistic regression model and the distribution of epilepsy cases was investigated using the Moran's I statistic of spatial auto-correlation.Among the 12,776 individuals of Dingila, 373 (2.9% individuals with epilepsy were identified. In a house-to-house survey in Titule, 68 (2.3% of the 2,908 people who participated in the survey were found to present episodes of epilepsy. Epilepsy showed a marked spatial pattern with clustering of cases occurring within and between adjacent households. Individual risk of epilepsy was found to be associated with living close to the nearest fast flowing river where blackflies (Diptera: Simuliidae-the vector of Onchocerca volvulus-oviposit and breed.The prevalence of epilepsy in villages in the Bas-Uélé district in the DRC was higher than in non-onchocerciasis endemic regions in Africa. Living close to a blackflies infested river was found to be a risk factor for epilepsy.
Colebunders, Robert; Tepage, Floribert; Rood, Ente; Mandro, Michel; Abatih, Emmanuel Nji; Musinya, Gisele; Mambandu, Germain; Kabeya, José; Komba, Michel; Levick, Bethany; Mokili, John L; Laudisoit, Anne
Background An increased prevalence of epilepsy has been reported in many onchocerciasis endemic areas. Objective To determine the prevalence and distribution of epilepsy in an onchocerciasis endemic region in the Democratic Republic of the Congo (DRC). Design/Methods An epilepsy prevalence study was carried out in 2014, in two localities of the Bas-Uélé district, an onchocerciasis endemic region in the Orientale Province of the DRC. Risk factors for epilepsy were identified using a random effects logistic regression model and the distribution of epilepsy cases was investigated using the Moran’s I statistic of spatial auto-correlation. Results Among the 12,776 individuals of Dingila, 373 (2.9%) individuals with epilepsy were identified. In a house-to-house survey in Titule, 68 (2.3%) of the 2,908 people who participated in the survey were found to present episodes of epilepsy. Epilepsy showed a marked spatial pattern with clustering of cases occurring within and between adjacent households. Individual risk of epilepsy was found to be associated with living close to the nearest fast flowing river where blackflies (Diptera: Simuliidae)–the vector of Onchocerca volvulus–oviposit and breed. Conclusions The prevalence of epilepsy in villages in the Bas-Uélé district in the DRC was higher than in non-onchocerciasis endemic regions in Africa. Living close to a blackflies infested river was found to be a risk factor for epilepsy. PMID:27139245
Betting, Luiz Eduardo; Mory, Susana Barreto; Li, Li Min; Lopes-Cendes, Iscia; Guerreiro, Marilisa M; Guerreiro, Carlos A M; Cendes, Fernando
Idiopathic generalized epilepsies (IGE) are a group of frequent age-related epilepsy syndromes. IGE are clinically characterized by generalized tonic-clonic, myoclonic and absence seizures. According to predominant seizure type and age of onset, IGE are divided in subsyndromes: childhood absence and juvenile absence epilepsy (AE), juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures on awakening (GTCS). The limits between these subsyndromes are not well defined, supporting the existence of only one major syndrome. Visual assessment of routine magnetic resonance imaging (MRI) in patients with IGE is normal. MRI voxel-based morphometry (VBM) uses automatically segmented gray and white matter for comparisons, eliminating the investigator bias. We used VBM to study 120 individuals (47 controls, 44 with JME, 24 with AE and 15 with GTCS) to investigate the presence of subtle structural abnormalities in IGE subsyndromes. VBM was performed searching for abnormalities on gray matter concentration (GMC) between patients groups and controls. Compared to controls, JME presented increased GMC in frontobasal region and AE showed increased GMC in the superior mesiofrontal region. The GTCS group did not differ from controls. There were no areas of reduced GMC with the statistical level selected. Region of interest analysis showed increased GMC in the anterior portion of the thalamus in patients with absence seizures. Our results support subtle GMC abnormalities in patients with JME and AE when compared to controls. These findings suggest the existence of different patterns of cortical abnormalities in IGE subsyndromes. PMID:16702001
Full Text Available ... to experience a return of seizures after being well controlled for long periods of time. Epilepsy and ... general neurologist can treat uncomplicated epilepsy that is well controlled on one medication. However, most people with ...
Full Text Available ... International TSC Research Conference Text Size Get Involved EPILEPSY IN ADULTS WITH TSC Download a PDF of ... age, including either new-onset seizures or ongoing epilepsy. Recent studies indicate that more than 80% of ...
Full Text Available ... might benefit their individual situation. Epilepsy Surgery: Surgical approaches to treating epilepsy in individuals with TSC are ... Facebook Twitter YouTube How to Make a Donation Research Directed Donations Tributes Planned Giving/Endowments Partner Offers ...
Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... epilepsy will experience changes in sexual drive and performance. For example, many men report a decrease in ...
Full Text Available ... SEGAs that are not candidates for curative surgery. Evaluation of New-Onset Seizures All individuals with new- ... diet that are more palatable for some individuals. Links Information for Women with Epilepsy: www.epilepsy.com/ ...
Full Text Available ... of time. Epilepsy and Seizures Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any ... called "fits" or convulsions) are episodes of disturbed brain function that cause changes in attention or behavior. ...
Full Text Available ... brain. Devices to treat epilepsy include vagus nerve stimulation and responsive neurostimulation. Who Treats Epilepsy? A general ... imaging (MRI) of the brain throughout adolescence and early adulthood (at least until the age of 21 ...
Full Text Available ... centers in a large city and/or an academic center near you (for a listing of epilepsy ... Men with TSC Many men with epilepsy will experience changes in sexual drive and performance. For example, ...
... HUMAN SERVICES Health Resources and Services Administration Epilepsy Program AGENCY: Health Resources... to the Epilepsy Foundation of America. SUMMARY: The Health Resources and Services Administration will be issuing noncompetitive supplemental funding under the Maternal and Child Health Bureau's...
Full Text Available ... time. Epilepsy and Seizures Epilepsy is any brain disorder that causes repeated, spontaneous seizures of any type. ... Government Action Team TS Alliance Online Support Community Facebook Twitter YouTube How to Make a Donation Research ...
Full Text Available ... delay. Children outgrow infantile spasms because they either go away or transition to other types of seizures. ... near you (for a listing of epilepsy centers go to www.naec-epilepsy.org or call 1- ...
Objective To study the clinical characteristics of 2952 patients with epilepsy who had received drug treatment from the neurology outpatient clinics of eight major hospitals in Hong Kong. Methods Retrospective review of outpatient records. Results 1601 (54.3%) males and 1351 (45.7%) females with a median age of 35.8 years (range, 10-94.8) were studied. Seizure types included generalized tonic-clonic in 80.7% of patients, complex partial in 28.3%, simple partial in 14.4%, atypical absence in 2.6% and myoclonic in 1.4%, and 30.4% of patients had more than one seizure type. EEG, CT brain, MRI brain and neuropsychological evaluation were obtained in 81.2%, 61.7%, 17.0% and 2.2% of patients, respectively. The etiology of epilepsy was cryptogenic in 59.9%, symptomatic in 35.1% and idiopathic in 3.9%; the commonest were intracranial infection, cerebral vascular disease, cranial trauma and perinatal insult. Phenytoin, carbamazepine and valproate were the most frequently used drugs and 25.9% of patients were taking more than two drugs. 48.3% of patients had active seizures in the past six months and 26.4% were considered to have unsatisfactory control of their epilepsy. Medical refractoriness of epilepsy was associated with a history of perinatal insult, intracranial infection, congenital brain malformation, intracranial neoplasm, cerebral vascular disease, hippocampal sclerosis, mental retardation and a history of status epilepticus (P<0.05). Conclusion In this local cohort of adult patients with epilepsy under specialist care, there were a considerable number of patients falling into the category of cryptogenic epilepsy. Risk factors associated with medical refractoriness are similar to previous studies.
Full Text Available Epilepsy is a common disease. WHO data suggests that 1 in 20 people may have an epileptic seizure in their lifetime and at least 1 in 200 go on to develop epilepsy. Anticonvulsant drug therapy using one or more drugs works as an effective tool to suppress seizures in only 70% of the patients, the remaining 30% are either not responsive or suffer major side effects. Surgical resection then forms the next line of management in selected patients. However in some cases surgical resection may not be possible, hence arises the need for alternative therapies. Neuromodulation of the Central Nervous system is a novel technique under evaluation for Medically Intractable epilepsy. CNS stimulation for epilepsy has been a matter of extensive research. We review the Neurophysiological basis of Neuromodulation in Epilepsy and various modalities viz Vagal nerve stimulation (VNS, Transcranial magnetic stimulation (TMS and Direct cortical stimulation (DCS. Deep brain stimulation (Hippocampal, Anterior thalamic and STN and RNS are newer modalities and are also reviewed.
Maria Cristina D'Adamo
Full Text Available K+ channels are important determinants of seizure susceptibility. These membrane proteins, encoded by more than 70 genes, make the largest group of ion channels that fine-tune the electrical activity of neuronal and non-neuronal cells in the brain. Their ubiquity and extremely high genetic and functional diversity, unmatched by any other ion channel type, place K+ channels as primary targets of genetic variations or perturbations in K+-dependent homeostasis, even in the absence of a primary channel defect. It is therefore not surprising that numerous inherited or acquired K+ channels dysfunctions have been associated with several neurologic syndromes, including epilepsy, which often generate confusion in the classification of the associated diseases. Therefore, we propose to name the K+ channels defects underlying distinct epilepsies as K+ channelepsies, and introduce a new nomenclature (e.g. Kx.y-channelepsy, following the widely used K+ channel classification, which could be also adopted to easily identify other channelopathies involving Na+ (e.g. Navx.y-phenotype, Ca2+ (e.g. Cavx.y-phenotype, and Cl- channels. Furthermore, we discuss novel genetic defects in K+ channels and associated proteins that underlie distinct epileptic phenotypes in humans, and analyze critically the recent progress in the neurobiology of this disease that has also been provided by investigations on valuable animal models of epilepsy. The abundant and varied lines of evidence discussed here strongly foster assessments for variations in genes encoding for K+ channels and associated proteins in patients with idiopathic epilepsy, provide new avenues for future investigations, and highlight these proteins as critical pharmacological targets.
Full Text Available Background: Epilepsy is a disorder that is commonly found in people with intellectual disability (ID. The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ and epilepsy in children with ID. Materials and Methods: A total of 262 children, aged 3-18 years, with ID were identified as part of a community-based rehabilitation project. These children were examined for epilepsy and diagnosed by a psychiatrist and physicians based on results of electroencephalogram tests. A Spearman′s correlation (ρ was used to determine if there was an association between IQ scores and the occurrence of epilepsy. X2 statistics used to examine the relationship of epilepsy with gender, socioeconomic status, population type, severity of ID, family history of mental illness, mental retardation, epilepsy, and coexisting disorder. Results: Spearman′s rho -0.605 demonstrates inverse association of IQ with epilepsy. X 2 demonstrates statistically significant association (P < 0.05 with gender, severity of ID, cerebral palsy, behavior problems, and family history of mental illness, mental retardation, and epilepsy. Conclusions: Lower IQ score in children with ID has association with occurrence of epilepsy. Epilepsy is also found highly associated with male gender and lower age.
Hossein Ali Ebrahimi
Full Text Available Background:Epilepsy is a common neurologic disorder affecting about 1% of the population (1. The prevalence of active epilepsy in Kerman is 7.87/1000 populations (2. In 23 countries of Asia the rate of epilepsy is the same as USA and Europe. Pharmacotherapy with antiepileptic drugs is the major treatment modality for epilepsy, this could occur as a result of decreased excitation concurrent with increased inhibition (3. Management of epilepsy differs from the treatment of other chronic diseases in which a single breakthrough event has a major negative effect on the quality of life.The past decade has brought many advances to the treatment of epilepsy, including many new pharmacological agents. Lamotrigine is one of the new antiepileptic drugs, which has been used more than two decades. Lamotrigine is effective in partial-onset and secondarily generalized tonic-clonic seizures, primary generalized seizures (i.e., absence seizures and primary generalized tonic-clonic seizures, atypical absence seizures, tonic / atonic seizures and Lennox-Gaustaut syndrome. It is sometimes effective for myoclonic seizures but it can worsen myoclonic seizures in some patients with juvenile myoclonic epilepsy or myoclonic epilepsy of infancy.One of the main advantages of lamotrigine is that it causes less cognitive impairment or overt sedation compared with other treatments (4. An anti-aging effect on animal model in a study has found that lamotrigine decreases mortality and increases lifespan.Lamotrigine has many side effects; the most important ones are allergic reactions, Introducing lamotrigine gradually is one of the keys to reduce the frequency and severity of allergic reactions. Although the incidence of cutaneous reactions to lamotrigine is high, the incidence of serious eruptions such as erythema multiform, Stevens-Johnson syndrome, and toxic epidermal necrolysis is low (5. In this study we evaluated the effects of lamotrigine on epileptic patients
Positron emission tomography (PET) was performed with the 18F-fluoro-deoxy-glucose method on 29 patients with epilepsy (generalized epilepsy, 4; partial epilepsy, 24; undetermined type, 1). The subjects were restricted to patients with epilepsy without focal abnormality on X-CT. All the patients with generalized epilepsy showed a normal pattern on PET. Fourteen out of the 24 patients with partial epilepsy and the 1 with epilepsy of undermined type showed focal hypometabolism on PET. The hypometabolic zone was localized in areas including the temporal cortex in 11 patients, frontal in 2 and thalamus in 1. The location of hypometabolic zone and that of interictal paroxysmal activity on EEG were well correlated in most patients. The patients with poorly-controlled seizure showed a higher incidence of PET abnormality (12 out of 13) than those with well-controlled seizures (2 out of 11). The incidence of abnormality on PET and MRI and the location of both abnormality were not necessarily coincident. These results indicated that the PET examination in epilepsy provides valuable information about the location of epileptic focus, and that the findings on PET in patients with partial epilepsy may be one of the good indicators about the intractability of partial epilepsy, and that PET and MRI provide complementary information in the diagnosis of epilepsy. (author)
N. A. Ermolenko
Full Text Available Tics are the most common forms of hyperkinesis among children and adolescents, the etiology of which is not fully clear. A study has shown a high comorbidity of tic disorders and epilepsy, as evidenced by video-EEG monitoring. In patients with tics even in the absence of epileptic seizures, epileptiform activity is an adverse predictor and a determinant of the potential risk of comorbid epilepsy especially during neuroleptic therapy. Antiepileptic drugs are the drugs of choice to treat this category of patients.
Krishnaiah, Balaji; Alwar, Seenivasan P.; Ranganathan, Lakshmi N.
Introduction: People living with epilepsy continue to suffer from enacted or perceived stigma that is based on myths, misconceptions, and misunderstandings that have persisted for many years. In the last decade, there has been an increase in individual literacy rate and increased access to technology in rural population. However, it is unclear if this has any effect on knowledge, attitude, and practice (KAP) attitude toward epilepsy. Objective: Our primary aim is to evaluate KAP toward epilepsy. In addition, we also estimated the prevalence of stroke and epilepsy in rural South India. Materials and Methods: Using a 14-item questionnaire, we assessed KAP toward epilepsy and identified determinants of inappropriate attitudes toward people with epilepsy and 10-item questionnaires to assess the prevalence of epilepsy and stroke among 500 randomly selected populations in a Pattaravakkam village (Tamil Nadu, India). Results: About 87.7% of the people had heard or read about epilepsy. Negative attitudes appeared to be reinforced by beliefs that epilepsy is hereditary (23.1%), kind of insanity (22.6%), or as contagious (12.0%). The knowledge about the clinical characteristics and first aid to a person during a seizure was 25.8%. About 36.5% of people think that society discriminates people with epilepsy. Moreover, our prevalence study showed that 8.7% people are suffering from epilepsy and 3.7% had stroke previously and at the day of survey, the stroke prevalence is 3.3%. Conclusion: Even with increased literacy, technology, and communication devices, the KAP of people toward epilepsy is relatively low. General public education campaigns and specific school education campaigns children should be encouraged to increase the KAP toward epilepsy. The prevalence and pattern of epilepsy and stroke is on the higher side in the village of Pattaravakkam. Future research regarding the value of targeted education in improving KAP will be worthwhile. PMID:27365954
Møller, Rikke Steensbjerre
The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....
Miriam H Meisler; Kearney, Jennifer; Ottman, Ruth; Escayg, Andrew
The development of molecular markers and genomic resources has facilitated the isolation of genes responsible for rare monogenic epilepsies in human and mouse. Many of the identified genes encode ion channels or other components of neuronal signaling. The electrophysiological properties of mutant alleles indicate that neuronal hyperexcitability is one cellular mechanism underlying seizures. Genetic heterogeneity and allelic variability are hallmarks of human epilepsy. For example, mutations i...
Sun, Yuelian; Vestergaard, Mogens; Carsten B Pedersen; Christensen, Jakob; Basso, Olga; Olsen, Jørn
The authors evaluated the association between gestational age, birth weight, intrauterine growth and epilepsy in a population-based cohort of 1.4 million singletons born in Denmark (1979-2002). A total of 14,334 individuals were registered with epilepsy in the Danish National Hospital Register as inpatients (1979-2002) and outpatients (1995-2002). Information on gestational age and birth weight was obtained from Danish Medical Birth Registry. Children small at birth were identified through tw...
Genton, Pierre; Thomas, Pierre; Kasteleijn-Nolst Trenité, Dorothee G A; Medina, Marco Tulio; Salas-Puig, Javier
Juvenile myoclonic epilepsy (JME) is a recognizable, frequent epileptic syndrome. The most typical ictal phenomenon is bilateral myoclonia without loss of consciousness (M), with most patients also presenting with generalized tonic-clonic seizures (GTCSs) and some with absence seizures (ASs). The most striking features of JME are its onset around the time of puberty and the fact that seizure episodes occur after awakening from a sleep period or in the evening relaxation period and are facilitated by sleep deprivation and sudden arousal. Photic sensitivity is common in the EEG laboratory but uncommon or unrecognized in daily life. The clinical features of JME make it easy to diagnose. In recent years, awareness of JME has increased, and patients are often accurately diagnosed clinically before confirmation by EEG. The typical circumstance at diagnosis is a first GTCS episode, and one learns during the interview that the patient has had M in the morning for some time before the GTCS episode. There are only few differential diagnoses: the adolescent-onset progressive myoclonus epilepsies, or other forms of idiopathic generalized epilepsies of adolescence. With JME being so common, we propose that a first GTCS episode in a teenager should be considered as revealing JME until proven otherwise. PMID:23756488
Sørensen, A S; Hansen, H; Andersen, R;
dimensions, healthy volunteers the lowest, while the psoriasis group repeatedly held an intermediate position in all sets of assessment (subjects, interviewers and relatives). A logistic regression analysis showed ixoide features being most important when the entire epilepsy group was compared with other...
In the Federal Republic of Germany it is assumed that about 80 000 patients suffer from a focal form of epilepsy which can not be sufficiently controlled with medication. As potential candidates for surgery, these patients undergo stepwise monitoring procedure in which the epileptic focus is located by means of increasingly invasive methods. In Erlangen the periictal SPECT is performed, whereby the perfusion tracer is injected after onset (ictal SPECT), immediately after cessation of the seizure (postictal scan) or between the seizures (interictal scan). To administer the tracer strongly in ictal or postictal state a close functional cooperation between the neurology and nuclear medicine department must be arranged. Injection inside the monitoring unit must be attuned to federal antiradiation precaution law. In temporal lobe epilepsy, different injection-times demonstrate a large area of hyperperfusion after ictal onset, which refines in the first two postictal minutes to the generating focus together with a decreased parietal blood flow pattern. Later, the entire temporal lobe epilepsy an early tracer injection within 40 seconds has to be achieved, otherwise an ictal propagation into distant brain areas, possibly contralateral, may occur. Extratemporal epilepsy is often linked to trauma or congenital malformations, and is difficult to categorize. In difficult cases with equivocal results, efforts can be undertaken by means of receptor scintigraphy with, for example, iomazenil, to localize the focus as a cold lesion caused by neuronal loss. (orig.)
Askamp, Jessica; Putten, van M.J.A.M.
The sensitivity of routine EEG recordings for interictal epileptiform discharges in epilepsy is limited. In some patients, inpatient video-EEG may be performed to increase the likelihood of finding abnormalities. Although many agree that home EEG recordings may provide a cost-effective alternative t
Reami, D O; Silva, D F; Albuquerque, M; Campos, C J
The relationship between dreams and epilepsy is illustrated by two patients whose awake epileptic seizures and recurrent dreams during night sleep had similar content. In both of our cases the EEG showed right anterior temporal spike discharge, suggesting a role for the temporal lobe in the association between dreams and seizures. PMID:1985830
V S Saxena; Nadkarni, V. V.
Nonpharmacological treatment of epilepsy includes surgery, vagal nerve stimulation, ketogenic diet, and other alternative/complementary therapies, e.g., yoga, Ayurveda, electroencephalography (EEG) biofeedback technique, aerobic exercise, music therapy, transcranial magnetic stimulation, acupuncture, and herbal remedies (traditional Chinese medicine). Alternative therapies, despite the term, should not be considered as an alternative to antiepileptic medication; they complement accepted drug ...
920184 Clinical analysis of 25 cases ofchronic alcoholic intoxication with epilepsy.PANG Zhixing (庞治兴),et al.Dept Psychol,1stTeaching Hosp.Norman Bethune Med Univ,130021 Chin J Nerv & Ment Dis 1991; 17 (5):289-291.The clinical manifestations of 25 cases (male)
Uldall, P; Alving, J; Gram, L;
In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects...
Uldall, P; Alving, J; Gram, L;
In an retrospective uncontrolled long-term study in 30 children with intractable epilepsy, it was found that treatment with vigabatrin resulted in a seizure reduction of more than 50% at 1-year follow-up in 40% of the children. The responders were all children with partial seizures. Side effects ...
Folbergrová, Jaroslava; Kunz, W.S.
Roč. 12, č. 1 (2012), s. 35-40. ISSN 1567-7249 R&D Projects: GA ČR(CZ) GA309/05/2015; GA ČR GA309/08/0292 Institutional research plan: CEZ:AV0Z50110509 Keywords : epilepsy * mitochondrial dysfunction * neurodegeneration Subject RIV: FH - Neurology Impact factor: 4.025, year: 2012
With improvement in magnetic resonance (MR) imaging techniques, the ability to identify lesions responsible for temporal lobe epilepsy has increased. MR imaging has also enabled the in vivo diagnosis of hippocampal sclerosis. Brain tumors are responsible for 2-4% of epilepsies in adult population and 10-20% of medically intractable epilepsy. The sensitivity of MR imaging in the diagnosis of tumors and other lesions of the temporal lobe (vascular malformations, etc.) is around 90%. Both hippocampal sclerosis and other temporal lobe lesions are amenable to surgical therapy with excellent postsurgical seizure outcome. In this article, we characterize and underline distinguishing features of the different pathological entities. We also suggest an approach to reviewing the MR images of an epileptic patient. (author)
Wu, Chunsen; Sun, Yuelian; Vestergaard, Mogens;
OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978-2004). Informat......OBJECTIVE: Eclampsia has been found to be a strong risk factor for epilepsy in the offspring, but it is unclear whether the risk also applies to the preceding condition, preeclampsia. METHODS: We conducted a population-based cohort study of 1537860 singletons born in Denmark (1978......-2004). Information on preeclampsia (mild, severe, and unspecified), eclampsia, and epilepsy was obtained from the Danish National Hospital Register. Information on gestational age, birth weight, and Apgar score was obtained from the Danish Medical Birth Registry. We used Cox proportional hazard models to estimate...... the incidence rate ratio of epilepsy for children who were exposed to preeclampsia or eclampsia in prenatal life. RESULTS: We identified 45288 (2.9%) children who were exposed to preeclampsia (34823 to mild, 7043 to severe, and 3422 to unspecified preeclampsia) and 654 (0.04%) to eclampsia during...
Potschka, Heidrun; Fischer, Andrea; von Rüden, Eva-Lotta; Hülsmeyer, Velia; Baumgärtner, Wolfgang
Dogs with spontaneous diseases can exhibit a striking similarity in etiology, clinical manifestation, and disease course when compared to human patients. Therefore, dogs are intensely discussed as a translational model of human disease. In particular, genetic studies in selected dog breeds serve as an excellent tool to identify epilepsy disease genes. In addition, canine epilepsy is discussed as a translational platform for drug testing. On one hand, epileptic dogs might serve as an interesting model by allowing the evaluation of drug efficacy and potency under clinical conditions with a focus on chronic seizures resistant to standard medication, preventive strategies, or status epilepticus. On the other hand, several limitations need to be considered including owner-based seizure monitoring, species differences in pharmacokinetics and drug interactions, as well as cost-intensiveness. The review gives an overview on the current state of knowledge regarding the etiology, clinical manifestation, pathology, and drug response of canine epilepsy, also pointing out the urgent need for further research on specific aspects. Moreover, the putative advantages, the disadvantages, and limitations of antiepileptic drug testing in canine epilepsy are critically discussed. PMID:23506100
Yudan Lü; Weihong Lin; Dihui Ma
OBJECTIVE: To review the relationship between calcium ion channel and epilepsy for well investigating the pathogenesis of epilepsy and probing into the new therapeutic pathway of epilepsy.DATA SOURCES: A computer-based online research Calcium ion channel and epilepsy related articles published between January 1994 and December 2006 in the CKNI and Wanfang database with the key words of "calcium influxion, epilepsy, calcium-channel blocker". The language was limited to Chinese. At the same time,related articles published between January 1993 and December 2006 in Pubmed were searched for on online with the key words of "calcium influxion, epilepsy" in English.STUDY SELECTION: The materials were selected firstly. Inclusive criteria: ① Studies related to calcium ion channel and the pat1hogenesis of epilepsy. ② Studies on the application of calcium ion channel blocker in the treatment of epilepsy. Exclusive criteria: repetitive or irrelated studies.DATA EXTRACTION: According to the criteria, 123 articles were retrieved and 93 were excluded due to repetitive or irrelated studies. Altogether 30 articles met the inclusive criteria, 11 of them were about the structure and characters of calcium ion channel, 10 about calcium ion channel and the pathogenesis of epilepsy and 9 about calcium blocker and the treatment of epilepsy.DATA SYNTHESIS: Calcium ion channels mainly consist of voltage dependent calcium channel and receptor operated calcium channel. Depolarization caused by voltage gating channel-induced influxion is the pathological basis of epileptic attack, and it is found in many studies that many anti-epileptic drugs have potential and direct effect to rivalizing voltage-dependent calcium ion channel.CONCLUSION: Calcium influxion plays an important role in the seizure of epilepsy. Some calcium antagonists seen commonly are being tried in the clinical therapy of epilepsy that is being explored, not applied in clinical practice. If there are enough evidences to
Clasadonte, Jerome; Dong, Jinghui; Hines, Dustin J.; Haydon, Philip G.
Temporal lobe epilepsy (TLE) is a chronic brain disorder characterized by the occurrence of spontaneous recurrent seizures. Much of our knowledge of epilepsy is based on how neurons contribute to this disorder. Here we provide a view in which glial cells (astrocytes) contribute to the progressive development of TLE. We have combined a model of epilepsy that more closely mimics the complex features of seizures in epileptic patients, with astrocyte-specific molecular genetics to identify how as...
Summary Background The epilepsies are a clinically heterogeneous group of neurological disorders. Despite strong evidence for heritability, genome-wide association studies have had little success in identification of risk loci associated with epilepsy, probably because of relatively small sample sizes and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilep...
Lee, Seo-Young; Jung, Ki-Young; Lee, Il Keun; Yi, Sang Do; Cho, Yong Won; Kim, Dong Wook; Hwang, Seung-Sik; Kim, Sejin; ,
The Korean national health security system covers the entire population and all medical facilities. We aimed to estimate epilepsy prevalence, anticonvulsant utilization pattern and the cost. We identified prevalent epilepsy patients by the prescription of anticonvulsants under the diagnostic codes suggesting seizure or epilepsy from 2007 Korean National Health Insurance databases. The information of demography, residential area, the kind of medical security service reflecting economic status,...