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At least 19 recordsLinked to original sources

PubMed1990

Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy.

Idiopathic generalized epilepsies, i.e., juvenile myoclonic epilepsy (JME), childhood absence epilepsy, and epilepsy with grand mal [generalized tonic-clonic seizures (GTCS)], are the most common genetic epilepsies. Linkage studies using Bf, HLA serologic, and DNA markers by three independent investigators, one from Los Angeles and two from Berlin, have localized the JME locus to the short arm of chromosome 6 (6p). Because members of the same JME family have the same JME phenotype of childhood absence epilepsy, epilepsy with grand mal (GTCS) seizures, or early childhood myoclonic epilepsy (ECME), our observations give evidence for a single-locus etiology in 6p for JME and for at least some of the childhood absence seizures, epilepsy with grand mal (GTCS) seizures, and ECME. Studies should now address whether locus heterogeneity exists within childhood absence epilepsy, epilepsy with grand mal (GTCS) seizures, or ECME. Markers linked to JME (Bf, HLA serologic, and DNA markers in the DQ region) can be used to resolve etiologic heterogeneity. Using such markers, both linked and unlinked forms of phenotypes that are clinically indistinguishable may be detected and provide evidence for etiologic heterogeneity. Studies should also concentrate on narrowing the JME locus to 2 to 3 cm by screening families with recombinant events using RFLPs, candidate genes, and new expressed sequences on chromosome 6.

Adolescent↗

PubMed1992

The National General Practice Study of Epilepsy. The syndromic classification of the International League Against Epilepsy applied to epilepsy in a general population.

In this prospective, population-based study of 594 cases of newly diagnosed epilepsy, proportions in categories as defined by the International League Against Epilepsy (ILAE) were as follows: (1) localization-related epilepsies: 1.1* idiopathic, 1.2%; 1.2* symptomatic, 16.2%; and 1.3 cryptogenic, 24.6%; (2) generalized epilepsies: 2.1* idiopathic (idiopathic generalized epilepsy) with 3-Hz spike and wave: absence epilepsy, 2.2%; juvenile myoclonic epilepsy, 1.5%; and nonspecific idiopathic generalized epilepsy, 5.6%; 2.3.1* symptomatic generalized epilepsies, 1.5%; 2.3.2* specific syndromes with generalized epilepsy, 0.3%; 3.2 seizures without unequivocal focal or generalized features, 32%; 4.1 situation-related syndromes, isolated seizures, 9.9%; seizures due to acute toxic or metabolic cause,* 4.5%. Only 33.6% were in diagnostic ILAE categories (asterisks) and many rare syndromes were not represented. The remainder (66.4%) were in various nonspecific categories. Only 24% of localization-related epilepsies could be clinically localized to a single ILAE-proposed site of origin and of these best localized cases, 14% had strongly discordant imaging or electroencephalograms. These major problems in applying the ILAE classification to epilepsy in the general population and its underemphasis of modern imaging techniques are discussed.

Cerebral Cortex↗

PubMedDate not supplied

Experience with the International League against Epilepsy proposals for classification of epileptic seizures and the epilepsies and epileptic syndromes in a pediatric outpatient epilepsy clinic.

The International League Against Epilepsy proposals for classification of epileptic seizures (1981) and of the epilepsies and epileptic syndromes (1985) have been used in daily practice in a pediatric epilepsy clinic in Bogota, Colombia. Most patients can be classified by these schemes, and the classifications are useful in everyday diagnosis and management. However, there are some drawbacks and difficulties with the classifications. Some syndromes are unnecessarily separated as different entities, artificially contributing to the complexity of the Classification.

Ambulatory Care Facilities↗

PubMedDate not supplied

Prognosis of epilepsy in newly referred patients: a multicenter prospective study of the effects of monotherapy on the long-term course of epilepsy. Collaborative Group for the Study of Epilepsy.

A cohort of 280 previously untreated epilepsy subjects (159 men and 121 women aged 2-81 years) recruited in 14 Italian centers were treated with antiepileptic drug (AED) monotherapy and followed for a median period of 48 months to investigate the rates of seizure remission (i.e., complete control), in general and with reference to various prognostic factors. The cumulative probability of achieving 1-year remission was 62% by 1 year after onset of treatment, 81% by 2 years, 92% by 3 years, and 98% by 5 years. The corresponding figures for 2- and 3-year remission at 5 years were 92 and 78%, respectively. Sixty-two patients (22.1%) had no remission period with monotherapy. Remission rates were significantly lower among patients with two or more seizure types and were inversely correlated to the number of seizures before treatment. The rate of seizure relapses during the first year of follow-up appear to correlate to the risk of developing refractory epilepsy (i.e., with no remission).

Adolescent↗

PubMed1989

National General Practice Study of Epilepsy and Epileptic Seizures: objectives and study methodology of the largest reported prospective cohort study of epilepsy. National General Practice Study of Epilepsy and Epileptic Seizures (NGPSE).

Most available data on the prognosis of epileptic seizures come from hospital-based clinics in which patients with chronic or severe disease are over-represented. The National General Practice Study of Epilepsy and Epileptic Seizures is a large prospective community-based study of people with newly diagnosed seizures which aims to address questions related to the early prognosis of epilepsy. 275 general practitioners throughout the United Kingdom have registered a total of 1,195 patients. In this paper we discuss the background to the study and the methodology used.

Cohort Studies↗

PubMed1989

[Relation of familial epilepsy predisposition in the etiology of secondary generalized epilepsies in childhood].

Taking into account the familial predisposition with regard to cerebral convulsions and the electroencephalographic and cranial computer-tomographic findings in 307 children and adolescents with epilepsy, the role of genetic factors in the etiology of secondary generalized epilepsy was investigated in the present study. The patients with primary generalized epilepsy displayed a positive family history with regard to cerebral convulsions more frequently than those with secondary generalized and partial epilepsy. However, this difference cannot be statistically verified. One quarter of the 27 patients with secondary generalized epilepsy which display familial predisposition to epilepsy in the history were children with West- and Lennox-Gastaut-Syndrome. It was remarkable that there was no significant difference between the patients with normal and pathological CCT findings with regard to the incidence of familial predisposition. This applied in the same way even in a comparison within the subpopulations of the different epilepsy forms. These results underscore the significance of genetic predisposition not only in manifestation of primary generalized epilepsy, but also with regard to epilepsy forms with demonstrable morphological organic lesions in the brain. They thus support the opinion held hitherto that the manifestation of epileptic attacks results from the interaction of endogenous genetic factors and exogenous damage mechanisms.

Brain Damage, Chronic↗

PubMed1992

Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy.

There have been anecdotal reports of an association between coeliac disease and epilepsy with cerebral calcifications that resemble those of the Sturge-Weber syndrome. A series of patients who had epilepsy with calcifications, in whom coeliac disease (CD) was incidentally observed, prompted us to study this association. 43 patients (15 male, age range 4.6-30.7 years) were selected from two series. 31 patients with cerebral calcifications of unexplained origin and epilepsy (series A) underwent intestinal biopsy. 12 patients with CD and epilepsy (series B) underwent computed tomography. Antibodies to gluten, folic acid serum concentrations, were measured, and HLA typing was done in most patients. 24 of the series A patients were identified as having CD on the basis of a flat intestinal mucosa (15/22 with a high concentration of serum antigluten), and 5 series B patients showed cerebral calcifications, giving a total of 29 cases with the combination of CD, epilepsy, and cerebral calcifications (CEC). In 27 of these CEC patients, calcifications were located in the parieto-occipital regions. Only 2 of the series A patients had gastrointestinal symptoms at the time of intestinal biopsy; most patients had recurrent diarrhoea, anaemia, and other symptoms suggestive of CD in the first 3 years of life. The epilepsy in CEC patients was poorly responsive to antiepileptic drugs. Gluten-free diet beneficially affected the course of epilepsy only when started soon after epilepsy onset. Cases of "atypical Sturge-Weber syndrome" (characterised by serpiginous cerebral calcifications and epilepsy without facial port-wine naevus) should be reviewed, and CD should be ruled out in all cases of epilepsy and cerebral calcifications of unexplained origin.

Adolescent↗

PubMed1979

Medicosocial aspect of people with epilepsy in Japan--a survey from standpoint of epilepsy center.

Medicosocial aspects of 2,000 patients with epilepsy were outlined on the basis of international classification of epilepsies and epileptic seizures. 1. The incidence of secondary generalized epilepsy was higher compared with that reported previously. It was possible that we have been dealing with rather intractable epilepsy. Non-convulsive epileptic seizures should be treated as intensively as convulsive attacks. 2. Contrary to primary generalized epilepsy, secondary generalized epilepsy and partial epilepsy, a part of which was complex partial seizures, were more prone to be associated with psychological difficulties. 3. The rate of normal mentality was apparently proportional to the actual ease of employment among adult patients. Fortunately, the general attitude of education toward younger people with epilepsy was seemingly generous. However, the marital status of both sexes was far from satisfactory. The stigma might have been felt more by adult patients than younger ones. 4. It appeared to be conceivable that two-thirds of the people with epilepsy are treatable to a certain extent by adequate regimens while one-tenth are obliged to stay in residential centers for a lengthy period of time. Thus, various rehabilitation activities are indicated for one-fourth of the patient population. Actual strategy for rehabilitation of epileptics should be individually designed in accordance with the natural history of each epilepsy.

Adolescent↗

PubMed1975

Relative frequency of different types of epilepsy: a study employing the classification of the International League Against Epilepsy.

Approximately three-quarters of epileptic patients seen in consultation by specialists can easily be assigned to one of the diagnostic categories of the International League against Epilepsy. When patient age is taken into account, such a distribution shows that partial epilepsy is more common than generalized epilepsy (62% versus 38%) in patients of all ages, especially in those over 15 years of age (78% versus 22%). In contrast, generalized epilepsy is more frequent in subjects under 15 than partial epilepsy (55% versus 45%). In this younger age group the rarity of partial epilepsy is primarily due to the infrequency of temporal lobe epilepsy (21% of cases, as opposed to 56% in subjects over 15), whereas both primary and secondary generalized epilepsy contribute to the frequency of generalized epilepsy in this group.

Adolescent↗

PubMed1991

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients.

Juvenile myoclonic epilepsy (JME) is a distinct subform of idiopathic generalized epilepsy of adolescence. Linkage studies with Bf and serologic HLA markers in families of JME patients have shown a tight linkage on chromosome 6. We present a linkage analysis with HLA-DQ restriction fragment length polymorphisms on more extended families, paying particular attention to the epilepsy type of the affected family members. We studied 21 families of JME patients with a total of 143 family members and obtained a highest logarithm of the odds (lod) score of 3.9 (theta m = 0.01, theta f = 0.01) assuming a dominant mode of inheritance and 70% penetrance when family members with JME, absence epilepsy, or epilepsy with generalized tonic-clonic seizures (GTCS) were considered as affected. When we also classified clinically normal family members with generalized spike-wave discharges in the EEG as "affected," the maximum lod score was 4.1 (theta m = 0.01, theta f = 0.3) under a dominant mode of inheritance and 90% penetrance. These findings support the conclusion that a gene locus for a group of idiopathic generalized epilepsies (JME, epilepsy with absences, and epilepsy with GTCS) maps to chromosome 6p.

Chromosomes, Human, Pair 6↗

PubMed1992

Dipole tracing in childhood epilepsy with special reference to rolandic epilepsy.

To assess the clinical applicability of dipole tracing in childhood epilepsy, the location and stability of electric source generator of focal spikes seen in EEG of epileptic children were investigated using this method. The patients were divided into 3 groups; benign childhood epilepsy with centrotemporal spikes (BCECS, Group A, n = 14), other types of epilepsy with centrotemporal spikes (Group B, n = 15) and epilepsy with focal spikes in other areas (Group C, n = 13). The spike dipole in each group was analyzed using dipole tracing method. The following results were obtained. (1) The spikes of BCECS were characterized by constantly stable dipoles, compared to those of the other types of childhood epilepsy. The spikes of epileptic children with mental retardation mostly lacked the stability of dipoles. These seemed to suggest that the stability of dipoles was closely related to the prognosis and pathophysiology of epilepsy. (2) The dipoles of BCECS were localized strictly in the Rolandic area. Dipole tracing from EEG spikes was considered to contribute to the elucidation of the pathophysiology of childhood epilepsy.

Adolescent↗

PubMed1989

The genetically epilepsy-prone rat. A valuable model for the study of the epilepsies.

In order to develop a rational clinical treatment for any pathological state, the molecular bases for that state must be understood. As simple and logical as that statement appears, it remains the major obstacle to effective treatment of the family of neurological disorders collectively called the epilepsies. Under the term, the epilepsies are grouped as several types of seizure processes that undoubtedly have multiple pathophysiological causes. Thus, the search to elucidate the molecular bases for the epilepsies has as one of its fundamental components the careful selection of an appropriate model system. The search for an "ideal" seizure model has essentially followed two paths. In the first, animals are rendered "epileptic" by artificial methods and then the pathophysiological, electrophysiological, and pharmacological changes are evaluated. In the second, animals are developed with a genetic predisposition to seizures and used to evaluate the molecular bases for the seizure-prone state. Work using both types of models have provided valuable information about the epileptic state. This review describes an epilepsy model developed using the second approach, namely, the Genetically Epilepsy-Prone Rat (GEPR). These animals represent a valuable model for the study of the inborn neurological defect that predisposes these animals to seizures. A brief description of the work done in several laboratories characterizing the model is presented. Finally, the value of the GEPR as a model for studying the pathophysiology of the epilepsies will be described.

Amino Acids↗

PubMed1992

Epilepsy and the quality of everyday life. Findings from a study of people with well-controlled epilepsy.

Epilepsy is a stigmatising disorder and available evidence suggests that its diagnosis can have important psychosocial consequences and severely reduce the quality of an individual's everyday life. A number of studies have examined the psychosocial aspects of living with epilepsy, but these have generally involved groups of patients with severe or intractable epilepsy, so that the prevalence of problems may be over-estimated. The present study examined psychosocial functioning in a group of people in whom epilepsy was well-controlled; the majority had been seizure-free for at least two years. In doing so, it drew upon a model of quality of life which incorporated physical, social and psychological domains. Among this group of people, psychosocial functioning and adjustment to epilepsy appeared high, with low reported levels of distress. This is an important finding, not least for people with epilepsy themselves.

Activities of Daily Living↗

PubMedDate not supplied

Ontogeny of feline temporal lobe epilepsy, II: Stability of spontaneous sleep epilepsy in amygdala-kindled kittens.

We previously described a model of spontaneous "sleep epilepsy" in kindled kittens with temporal lobe epilepsy (TLE). We now describe the postkindling course of this model from preadolescence to maturity and suggest pathophysiologic mechanisms. Spontaneous epilepsy, particularly generalized tonic-clonic convulsions (GTCs), developed 1h to 4 months after amygdala kindling and persisted to adulthood. At first, GTCs were detected only in sleep; later, convulsions also occurred during wakefulness. Two factors were consistently associated with the sequential onset of sleep and waking GTCs: seizure clusters and anatomic seizure localization. (1) Seizure clusters. Cats with infrequent or unclustered GTCs continued to exhibit "sleep epilepsy," defined by convulsions occurring exclusively during sleep. In contrast, cats with frequent seizure clusters developed recurrent or terminal convulsive status in conjunction with GTCs during waking and sleep. Severe seizure manifestations therefore appeared to contribute to the dissociation of convulsions from the sleep-wake cycle. (2) Anatomical seizure localization. Focal seizure origin appeared to differentiate sleep from waking GTCs. Onset during sleep was first recorded in the kindled amygdala, whereas onset during waking was initially detected outside the temporal lobe. Findings thus suggest secondary "kindling" of multifocal epilepsy. Secondary epileptogenesis is consistent with "transsynaptic" kindling effects. This phenomenon is defined in mature animals by rapid secondary site kindling (transfer) and subtle morphologic changes distal to the stimulating electrode. Transfer may be accentuated by youth, because kittens developed spontaneous seizure foci in previously unstimulated tissue. Moreover, multifocal interactions and diffuse cell loss were implicated as possible mechanisms. Collectively, the findings indicate complications with early onset TLE in kindled cats. Onset during youth can have an unfavorable prognosis, reflected by recurrent status epilepticus and multifocal epilepsy with convulsions distributed throughout the sleep-wake cycle.

Amygdala↗

PubMed1992

National general practice study of epilepsy: the social and psychological effects of a recent diagnosis of epilepsy.

OBJECTIVES: To determine the nature and extent of psychosocial problems in epilepsy and their associations. DESIGN: A postal survey was used drawing data from prospective consecutive cases. Data on demographic, medical, and social backgrounds were collected. A specially designed, validated attitude questionnaire examined 14 areas of psychosocial adjustment to epilepsy. SETTING: 124 primary care general practices. SUBJECTS: Adults (aged over 17) with a recent diagnosis of epilepsy (within previous 36 months). They were registered with the national general practice study of epilepsy and had a confirmed diagnosis according to the usual criteria. 216 subjects were approached for the survey by their general practitioners; 192 returned questionnaires. RESULTS: Problems in at least one area were experienced by 175 (91%) of the 192 subjects. Problems were generally mild, which contrasts strongly with findings in chronic cases. The areas of greatest concern were fear of seizures (80% of cases; 72% moderate or severe) and fear of stigma in employment (69% of cases; 40% moderate or severe). A highly significant relation was found between psychosocial effects and the frequency and recency of seizures. CONCLUSIONS: In the early stages of epilepsy psychosocial effects are closely related to the severity of the medical condition, suggesting that the argument for the stigmatising effect of the diagnosis by itself is less important than previously thought. The findings also suggest that problems may evolve as the condition becomes chronic.

Adaptation, Psychological↗

PubMed1991

Antiepileptic drugs as 'tracers' of disease. A calculation of the prevalence of epilepsy through an analysis of drug consumption. The Group for the Study of Epilepsy in General Practice.

Antiepileptic drug (AED) consumption, expressed according to a standardized measurement of the average daily doses of each active principle (the defined daily dose, DDD), was assessed as a source of morbidity data to calculate the prevalence of AED takers. In a population of 51,220 from three areas in Italy (Arcisate, Treviglio, S. Giovanni Rotondo) all the patients treated with AEDs, traced by the local general practitioners, were examined by a neurologist. The diagnosis of epilepsy was confirmed in 199 of 223 AED takers, giving an overall prevalence rate of 3.94 per 1,000 (Arcisate 3.96; Treviglio 4.04; S. Giovanni Rotondo 3.89). There was a significant overlap between the observed and expected number of AED takers (the latter obtained from regional sales and expressed in DDD). Prevalence rates calculated from drug sales were 5.58 in Arcisate and 6.11 in Treviglio. The ratio of patients with epilepsy to AED takers in the two areas was 0.7 and corresponded to the mean proportion of AEDs prescribed for epilepsy in the years 1983-1988 by a sample of Italian physicians. Although the prevalence rate calculated from AED sales tends to approximate that of treated epilepsy, AEDs can be reasonably used as 'tracers' of disease for the easy access to drug sales in Italy, the appropriateness of the DDD as a standard measure of the daily doses of AED, the steady pattern of consumption, the comparability of data covering different areas and periods, and the stable proportion of drugs delivered for epilepsy.

Adolescent↗

PubMed1988

Modern perspectives on epilepsy in relation to psychiatry: behavioral disturbances of epilepsy.

In this paper, the second of a two-part series on current psychiatric aspects of epilepsy, the authors consider the classification and management of the various kinds of psychoses and other behavior disturbances associated with some cases of epilepsy. After discussing the common aspects of epilepsy and schizophrenia, they describe attempts to categorize epileptic psychoses, focusing on a classification of ten kinds of psychoses that they believe has broadest application. They present guidelines for psychopharmacological management of epilepsy accompanied by behavior disturbance, with emphasis on anticonvulsant monotherapy, and they discuss possibly related seizure disorders and possible etiologies of behavioral symptoms of epilepsy.

Anticonvulsants↗

PubMedDate not supplied

Experience with the International League Against Epilepsy classifications of epileptic seizures (1981) and epilepsies and epileptic syndrome (1989) in epileptic children in a developing country.

Four hundred eighty-three epileptic children attending the Pediatric Epilepsy Clinic at Bai Jerbai Wadia Hospital for Children, Bombay, India were classified according to the International League Against Epilepsy (ILAE) classification of epileptic seizures (1981) and epilepsies and epileptic syndromes (1989). The predominant seizures were partial (53.6), generalized (40.3%), and unclassifiable (6%). In epilepsies and epileptic syndromes, 55.3% were partial, 27% were generalized, 13.5% were undetermined, and 4.1% were special syndromes. Although our results were similar in many respects to those of other reported series, some differences were observed in the incidence of partial and generalized seizures, and partial and generalized epileptic syndromes and their subgroups, such as idiopathic, symptomatic, and cryptogenic partial syndromes, idiopathic generalized syndromes, and symptomatic specific syndromes. These differences are probably due to different age limits, methods of case ascertainment and inclusion criteria, different genetic and environmental factors, variable interpretation of clinical and EEG features, and lack of facilities for investigation in developing countries. Despite various limitations, we were able to classify most cases; the ILAE classification can be used in developing countries so that comparison can be made with other studies.

Adolescent↗