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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↗
PubMed2001

Specialist epilepsy nurses for treating epilepsy.

BACKGROUND: Epilepsy is the most common serious neurological condition after stroke, with a 0.5 per cent prevalence, and a two to three per cent life time risk of being given a diagnosis of epilepsy in the developed world. As a result of the perceived deficiencies and suggestions to improve the quality of care offered to people with epilepsy, two models of service provision have been suggested by researchers: specialist epilepsy out-patient clinics (as opposed to the management of patients in general neurology clinics or general medical clinics) and nurse-based liaison services between primary (GP) and secondary/tertiary (hospital based) care. OBJECTIVES: The aim of this review is to overview the evidence from controlled trials investigating the effectiveness of specialist epilepsy nurses compared to routine care. SEARCH STRATEGY: The following databases were searched: The Cochrane Controlled Trials Register (The Cochrane Library, Issue 4, 1999), MEDLINE, GEARS, BIDS (EMBASE=Excepta Medica), ECRI, Effectiveness Healthcare Bulletin, Effectiveness Matters, Bandolier, Evidence Based Purchasing, National Research Register, Vignettes and expert panels from Standing Group on Health Technology Assessment, PsycLit database, World Wide Web sites and reference lists of articles. SELECTION CRITERIA: All randomized controlled and quasi-randomized trials which considered specialist epilepsy nurse interventions with standard or alternative care were included in this review. DATA COLLECTION AND ANALYSIS: Two reviewers independently selected trials for inclusion and extracted the relevant data. The following outcomes were assessed: (a) seizure frequency (b) appropriateness of medication prescribed (c) social or psychological functioning scores (d) knowledge about epilepsy scores (e) objective measures of general health status/quality of life (f) patients' reports of information received (g) number of days spent on sick leave/missing school and employment status (h) costs of care (i) adverse effects. MAIN RESULTS: Three trials were included, two based in general practice and one in a neurology centre. The population of patients differed between trials, for example one study excluded patients with learning disabilities, and one only recruited patients with a new diagnosis. In view of this heterogeneity we decided not to pool results in a meta-analysis. As yet, there is no convincing evidence that specialist epilepsy nurses improve outcomes for people with epilepsy overall. Important outcomes (e.g. seizure frequency, psychosocial functioning, knowledge of epilepsy, general health status, work days lost, depression and anxiety scores) show no significant improvement. There is some evidence that those patients who have not had an epileptic seizure in the last six months are less at risk for depression. There is also evidence that newly diagnosed patients whose knowledge about epilepsy is poor may improve their epilepsy knowledge scores after nurse intervention. REVIEWER'S CONCLUSIONS: It is clearly plausible that specialist epilepsy nurses could improve quality in epilepsy care. However, there is as yet little evidence to support this assumption as the present research base is small. Further research is needed to investigate the effectiveness of specialist epilepsy nurses before such recommendations can be made.

Epilepsy↗
PubMed2006

Epilepsy in North America: a report prepared under the auspices of the global campaign against epilepsy, the International Bureau for Epilepsy, the International League Against Epilepsy, and the World Health Organization.

In North America, overall epilepsy incidence is approximately 50/100,000 per year, highest for children below five years of age, and the elderly. The best data suggest prevalence of 5-10/1000. Potential effects of gender, ethnicity, access to care and socioeconomic variables need further study. Studies of epilepsy etiology and classification mainly were performed without modern imaging tools. The best study found an overall standardized mortality ratio (SMR) for epilepsy relative to the general population of 2.3. There is evidence to suggest a greater increase in patients with symptomatic epilepsy, particularly children. People with epilepsy are more likely to report reduced Health-related Quality of Life than controls. They have reduced income, and are less likely to have full-time employment. They suffer from persistent stigma throughout the region, in developed as well as developing countries. Poor treatment access and health care disparities for people with epilepsy may be related to insufficient economic resources, rural isolation, gender, ethnicity, and lack of public and physician knowledge of modern approaches to epilepsy care. Despite high costs and severe disability, epilepsy may attract somewhat less research funding from public and private sources than other less common chronic neurological disorders. A Plan for Epilepsy in North America should address: basic and clinical research; primary prevention research; translation to care; stigma, quality of life, and self-management; industry relations; government and regional relations; and regional integration and resource sharing.

Epilepsy↗
PubMed1999

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (JME) with 10% to 30% of cases, childhood absence epilepsy (CAE) with 5% to 15% of cases, and pure grand mal on awakening with 22% to 37% of cases. In the last decade, six different chromosomal loci for common generalized epilepsies have been identified. These include two separate loci for JME in chromosomes 6p and 15q. The epilepsy locus in chromosome 6p expresses the phenotypes of classic JME, pure grand mal on awakening, and possibly JME mixed with absences. Two separate loci also are present for pyknoleptic CAE, namely, CAE that evolves to JME in chromosome 1p and CAE with grand mal in chromosome 8q24. Pandolfo et al. from the Italian League Against Epilepsy have reported two other putative susceptibility loci for idiopathic generalized epilepsies, namely, grand mal and generalized spike waves 35l in chromosome 3p and generalized epilepsies with febrile convulsions, grand mal, JME, absences, and electroencephalographic spike waves in 8q24. This chapter reports on the debate concerning whether there may be two separate epilepsy loci in chromosome 6p, one in the HLA region and one below HLA. The chapter then discusses the progress made in our laboratories as a result of the Genetic Epilepsy Studies (GENES) International Consortium. We discuss (a) the 2 to 6 cM critical region for classic JME located some 20 cM below HLA in chromosome 6p, (b) the 7-cM area for pyknoleptic CAE that evolves to JME in chromosome 1p, and (c) the 3.2 cM area for pyknoleptic CAE with grand mal and irregular 3 to 4 Hz spike waves in chromosome 8q24. We discusses efforts underway to refine the genetic map of JME in chromosome 6p11 and the advances in physical mapping and positioning of candidate genes, such as the gamma-aminobutyric acid receptor gene, the potassium channel gene of the long-QT family (KvLQT), named KCNQ3, and the human homologue of the mouse jerky gene for CAE in chromosome 8q24 and JME in chromosome 6p11.

Chromosome Mapping↗
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

[Level of knowledge about epilepsy among Polish patients with epilepsy and their families in the European study SPOKE (Sanofi-Synthelabo Programme for Outcome Knowledge of Epilepsy)].

BACKGROUND AND PURPOSE: The main aim of the European Study SPOKE (Sanofi-Synthelabo Programme for Outcome Knowledge of Epilepsy) designed by the Department of Neurosciences, Walton Hospital in Liverpool and the Centre for Health Services Research at the University of Newcastle upon Tyne, England, was to describe levels of knowledge about epilepsy among people with epilepsy and their families. It was equally important to identify gaps in understanding the most important aspects of the illness as well as to identify characteristics of people who score poorly on the Epilepsy Knowledge Questionnaire (EKQ). Another aim was to consider the implications of identified gaps in knowledge for future educational and psychosocial interventions. MATERIAL AND METHODS: The study was conducted in 10 European countries and included 6156 people with epilepsy and 6506 members of their families. Results presented here relate to data for Poland only, where the examined population consisted of 1028 patients with epilepsy. 1033 questionnaires were returned by carers. RESULTS: Over 40% of all respondents had frequent seizures, and one third were seizure free. Scores on the Epilepsy Knowledge Questionnaire were high for the majority of respondents, but generally lower than in most of the countries. With reference to some aspects of illness important gaps in knowledge have been demonstrated. For example, it was shown that a significant number of respondents provided incorrect answers to questions relating to aspects of the etiology of epilepsy and administration of antiepileptic drug medication. There were a number of significant differences between the profiles of high and low scorers on the EKQ; high scorers were likely to have spent longer on education, have lower scores on the impact of epilepsy scale and report better adjustment to their epilepsy. CONCLUSIONS: The results of the study once again underline the importance of continued information among patients with epilepsy and their families in order to achieve.

Adolescent↗
PubMedDate not supplied

Evolution of childhood absence epilepsy, juvenile myoclonic epilepsy and epilepsy with grand mal on awakening.

Seventy-one Chinese children with idiopathic generalized epilepsy, from among 1931 pediatric epileptics, were reviewed clinically and electroencephalographically. They were classified under childhood absence epilepsy (CAE, 50/71), juvenile myoclonic epilepsy (JME, 7/71) and epilepsy with grand mal on awakening (GMA, 14/71). All the patients' family members with epilepsy were classified under idiopathic generalized epilepsy. Hyperventilation was the most common precipitating factor for CAE, and sleep deprivation was the most common one for JME and GMA. Electroencephalographically, fast generalized spike or polyspike-wave complex (> or = 3Hz) was the most common feature. Three JME (42%) and 4 GMA patients (28%) had been diagnosed as CAE about 5 to 7 years preceding JME and GMA, respectively. Sixteen CAE cases (32%) later evolved to be GMA. All JME patients had concomitant GMA and three GMA cases (21%) had concomitant JME at diagnosis. There is strong evolutional correlation among CAE, JME and GMA in this series.

Adolescent↗
PubMed1995

The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal.

Both linkage and association studies provide strong evidence that a gene locus on chromosome 6 is involved in the expression of juvenile myoclonic epilepsy (JME), an adolescent-onset form of primary idiopathic generalized epilepsy (IGE). This epilepsy-related gene locus, designated EJM-1, may also influence the expression of other forms of IGE. We report here evidence that at least one form of epilepsy that is similar to JME--pure, adolescent-onset grand mal epilepsy in which the seizures occur at any time during waking--is not linked to the EJM-1 locus. However, we also have evidence that another form of pure, adolescent-onset grand mal that occurs on awakening is linked to the EJM-1 locus and may be genetically the same as JME. This work suggests that clinically similar epileptic syndromes may have different genetic bases and underscores the critical importance of careful clinical observations in studying the genetics of the epilepsies.

Adolescent↗
PubMed2005

Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE).

The International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE) have come to consensus definitions for the terms epileptic seizure and epilepsy. An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. The definition of epilepsy requires the occurrence of at least one epileptic seizure.

Brain↗
PubMed1999

Classification of the epilepsies: time for a change? A critical review of the International Classification of the Epilepsies and Epileptic Syndromes (ICEES) and its usefulness in clinical practice and epidemiological studies of epilepsy.

The Commission on Classification and Terminology of the International League against Epilepsy (ILAE) first devised a comprehensive classification for the epilepsies and epileptic syndromes nearly 30 years ago. Despite subsequent revisions, the classification remains too complicated to be of utility in clinical practice and epidemiological research. Recent developments in neuro-imaging and neurogenetics have also contributed to the limited usefulness of the current International Classification of the Epilepsies and Epileptic Syndromes (ICEES). This review examines the evolution, advantages, and notable disadvantages of the ICEES and assesses its previous application in several population-based studies of epilepsy. The important need for a new, simplified, and aetiologically orientated classification which is amenable to use outside of the tertiary epilepsy centre is discussed.

Epidemiologic Methods↗
PubMed2003

Graphogenic epilepsy: a variant of language-induced epilepsy distinguished from reading- and praxis-induced epilepsy.

We report a case of graphogenic epilepsy as a variant of language-induced epilepsy. A 25-year-old, right-handed woman had noticed for the previous 10 years that writing almost always provoked jerks or a jerking sensation in her right hand. No other triggers, including facets of language function such as reading and speaking, elicited any epileptic seizures. Ictal EEG demonstrated an initial left central abnormality. In our report, we stress that graphogenic seizures as an expression of language-induced epilepsy should not be confused with those that are manifestations of juvenile myoclonic epilepsy, and that writing and reading trigger different facets of motor manifestations.

Adult↗
PubMed2001

Epilepsy--doctor's dilemma, lawyer's delight? Medico-legal consequences of practising in the field of epilepsy report of an International League Against Epilepsy British Branch meeting--Edinburgh, April 2000.

Six cases are described where the medical management of a person's epilepsy was brought under legal scrutiny. Lessons learnt from this educational exercise include improving doctor patient communication, the function of a Coroner's Court, when is misdiagnosis negligent, the vagaries of expert witnesses, should failure to diagnose a tumour be blamed on the physician or the service when facilities are inadequate, is failure to recognise a rare drug interaction, failure to warn against an interaction, or failure to take a proper history, negligent? The conference also examined the legal ramifications of the nurse/doctor relationship in epilepsy care, the place of epilepsy guidelines and, due to its interactive nature, reflected on the audience's epilepsy knowledge, which, in places seemed significantly deficient. It was a gripping educational exercise.

Adolescent↗
PubMed2002

Epilepsy--doctor's dilemma, lawyer's delight? Medico-legal consequences of practising in the field of epilepsy report of an International League against Epilepsy British Branch meeting--Edinburgh, April 2000.

Six cases are described where the medical management of a person's epilepsy was brought under legal scrutiny. Lessons learnt from this educational exercise include improving doctor patient communication, the function of a Coroner's Court, when is misdiagnosis negligent, the vagaries of expert witnesses, should failure to diagnose a tumour be blamed on the physician or the service when facilities are inadequate, is failure to recognise a rare drug interaction, failure to warn against an interaction, or failure to take a proper history, negligent? The conference also examined the legal ramifications of the nurse/doctor relationship in epilepsy care, the place of epilepsy guidelines and, due to its interactive nature, reflected on the audience's epilepsy knowledge, which, in places seemed significantly deficient. It was a gripping educational exercise.

Adolescent↗
PubMed2005

["Hot-water epilepsy ", "warm-water epilepsy", or bathing epilepsy? Report of three cases and considerations regarding an old theme].

Partial and generalized tonic-clonic reflex seizures related to hot water bathing have been described as temperature-related. We describe three cases of bathing epilepsy: a 28 year-old white male and a 30 year-old white female with spells triggered either by warm or hot water, and a 32 year-old female with spells triggered by hot water. The later two of the three cases presented localized epilepsy and a familial history of epilepsy. A complex tactile stimuli might play the most relevant role on seizure triggering, as well as water temperature with an additive effect over cutaneous stimulation.

Adult↗
PubMedDate not supplied

[Reflex myoclonic epilepsy in infancy: a new reflex epilepsy syndrome or a variant of benign myoclonic epilepsy in infancy].

CASE REPORTS: We report a clinical and EEG study of 8 children with reflex myoclonic epilepsy of infancy to further confirm the existence of this syndrome first described by Ricci et al in 1995. RESULTS: Between February 1990 to July 2002, we identified 64 epileptic patients with myoclonic seizures with an onset in the first six years of life. Eight (12.5%) of these patients had myoclonic seizure stimuli sensible. The seizures were characterized by generalized, myoclonic jerks triggered by tactile stimuli in six patients and acoustic stimuli in two, in one of them myoclonic jerks were triggered by both types of stimuli. The seizures appeared between 5 and 20 months of age. Two of the 8 patients had spontaneous myoclonic attacks during sleep. Interictal EEG was normal during wakefulness and occasional discharges were evident during sleep. In contrast, the ictal EEG during both wakefulness and sleep showed generalized spike wave and polyspike slow wave paroxysms. Neurologic examination, neuroimaging and neurometabolic studies were normal. Myoclonic jerks disappeared in 6 patients after valproic acid administration and in two after clobazan administration. Antiepileptic treatment was discontinued in 6 patients and no seizure recurrence was observed during a median follow up of 6 years. CONCLUSION: Our patients presented electro clinical criteria compatible with the syndrome of reflex myoclonic epilepsy of infancy. This syndrome could be considered to be a new reflex epileptic syndrome or a variant of benign myoclonic epilepsy in infancy.

Anticonvulsants↗
PubMedDate not supplied

[The Andalusia Epilepsy Society's Guide to Epilepsy Therapy 2005: IV. General principles of antiepileptic polytherapy and therapeutic strategies in refractory epilepsy].

AIMS: The objective of this work was to produce a scientific evidence-based guide to clinical practice dealing with the basic questions concerning the treatment of epilepsy. DEVELOPMENT: A committee of 11 experts belonging to the Andalusia Epilepsy Society, made up of six neurologists, three neuropaediatricians, one neurosurgeon and a pharmacologist, all of whom were deeply involved and experienced in epilepsy, conducted a thorough review of the literature in search of all the evidence available on the proposed subject matter. The following databases were used: MEDLINE, Cochrane Library and the databases of several clinical practice guidelines (National Guideline Clearinghouse, National Institute of Clinical Excellence and the American Academy of Neurology's Clinical Guidelines). The Guide was set out in seven sections and was published in four parts. From a total number of 187 relevant documents, the committee found 63 examples of scientific evidence and 91 therapeutic recommendations. These were tabulated and classified according to the European Federation of Neurological Societies' criteria for producing Clinical Practice Guidelines. CONCLUSIONS: The results of this survey provide scientific evidence-based clinical guidelines that are useful, simple and applicable at different levels of health care.

Anticonvulsants↗