SEARCH · PubMed Health

Results for “Epilepsy, Generalized”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 505 records · Page 28Linked to original sources

PubMed2001

Epilepsy care in six Indian cities: a multicenter study on management and service.

BACKGROUND: Epilepsy care in developing countries is lagging behind than in the developed countries. Precise data on delivery of neurological services for epilepsy is essential to optimize the medical services for epilepsy care with limited resources. OBJECTIVE: This study was carried out in order to examine the management practices and utilization of various medical services for epilepsy in different parts of India. METHODOLOGY: University centers with epilepsy clinics, one each from six states of India, had participated in this study. Demographic data, clinical details, and data on epilepsy care were collected simultaneously on standard proforma. RESULTS: Data on 285 patients with epilepsy (generalized epilepsy: 49.1%, localization-related epilepsy: 49.9%, others: 1%) were included. Mean age of onset of epilepsy was 14.8+11.1 years. Mean delay in diagnosis was 1.5+/-4 years. Mean distance from place of residence to the consulting neurologist was 70+/-82 km. Medical consultations before referral to epilepsy center included general practitioners (54.1%) and specialists (43.3%). Very few patients received services from clinical psychologist or social worker. Investigations included, EEG (63.2%), CT Scan (36.2%). MRI brain (8.5%) and video EEG (2.1%) were limited to a few. Nearly 75.5% were on monotherapy. Newer Anti-Epileptic Drugs (AEDs) were used only in less than 5% patients. CONCLUSION: The services for epilepsy are urban-based and there is underutilization of services, general practitioners and specialists. Newer AEDs (although expensive) are gradually emerging in Indian market. Facilities for epilepsy surgery, therapeutic drug monitoring and services of clinical psychologist or medical social workers are limited.

Anticonvulsants↗

PubMed1981

A clinical and electroencephalographical follow-up study for more than 10 years in patients with epilepsy.

A clinical and electroencephalographical follow-up study of 10 to 18 years was conducted on 147 patients with epilepsy. Generalized epilepsy was prognostically favorable, but petit mal absence with grand mal was not always good clinically and electroencephalographically as generally accepted. Paroxysmal discharges found in the initial EEGs tended to become more localized in the final EEGs recorded at least more than 10 years later. The migration of spike foci and bilateral independent spikes were found in many patients. Prognostically the EEG background was more important. Fourteen and six-per-second positive spikes and 6Hz spike and wave phantoms had an age dependence as well as 3 Hz spike and wave complexes and these discharges were regarded as prognostically the favorable patterns.

Adolescent↗

PubMed2000

Epilepsy genes: the link between molecular dysfunction and pathophysiology.

Our understanding of the genetic basis of epilepsy is progressing at a rapid pace. Gene mutations causing several of the inherited epilepsies have been mapped, and several more are likely to be added in coming years. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability. Mutations leading to epilepsy have been identified in genes encoding voltage- and ligand-gated ion channels (benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, generalized epilepsy with febrile seizures "plus"), neurotransmitter receptors (Angelman syndrome), the molecular cascade of cellular energy production (myoclonic epilepsy with ragged red fibers), and proteins without a known role in neuronal excitability (Unverricht-Lundborg disease). Gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function.

Animals↗

PubMed2006

Epilepsy syndromes in infancy.

An increasing number of infantile epilepsy syndromes have been recognized. However, a significant number of infants (children aged 1-24 months) do not fit in any of the currently used subcategories. This article reviews the clinical presentation, electroencephalographic findings, evolution, and management of the following entities: early infantile epileptic encephalopathy, early myoclonic epilepsy, infantile spasms/West syndrome, severe myoclonic epilepsy of infancy, myoclonic-astatic epilepsy, generalized epilepsy with febrile seizures plus, malignant migrating partial seizures of infancy, hemiconvulsions-hemiplegia-epilepsy, benign myoclonic epilepsy, and benign familial/nonfamilial infantile seizures. Issues related to their classification are addressed.

Electroencephalography↗

PubMed2004

Genetic association studies in epilepsy: "the truth is out there".

Success has been achieved in identifying many mutations in rare monogenic epilepsy syndromes by using linkage analysis, but dissecting the genetic basis of common epilepsy syndromes has proven more difficult. Common epilepsies are genetically complex disorders believed to be influenced by variation in several susceptibility genes. Association studies can theoretically identify these genes, but despite more than 50 association studies in epilepsy, no consistent or convincing susceptibility genes have emerged, leading to scepticism about the association-study approach. We review the results of existing association studies in focal epilepsies, generalized epilepsies, febrile seizures, and epilepsy pharmacogenetics. By using an illustrative example, we discuss how methodologic issues of sample size, selection of appropriate controls, population stratification, and significance thresholds can lead to bias and false-positive associations; the importance of biologic plausibility also is emphasized. Newer methodologic refinements for association studies, such as use of two control groups, genomic control, haplotyping, and use of two independent datasets, are discussed. A summary of existing guidelines and a checklist for planning and appraising such association studies in epilepsy is presented. We remain cautiously optimistic that with methodologic refinements and multicenter collaborations with large sample sizes, association studies will ultimately be useful in dissecting the genetic basis of common epilepsy syndromes.

Chromosome Mapping↗

PubMed2000

The value of pelvic thrusting in the diagnosis of seizures and pseudoseizures.

We evaluated pelvic thrusting as a potential diagnostic sign and localizing indicator of ictal onset. By reviewing the video-EEG results of patients with temporal lobe epilepsy, frontal lobe epilepsy, generalized epilepsy, and pseudoseizures. Pelvic thrusting occurred in 4% of right and 2% of left temporal lobe epilepsy patients, in 24% of frontal lobe epilepsy patients, and in 17% of patients with pseudoseizures. Pelvic thrusting is relatively common in frontal lobe epilepsy and in pseudoseizures, but also occurs in temporal lobe epilepsy.

Adolescent↗

PubMed2004

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

Mutations, exclusively missense, of voltage-gated sodium channel alpha subunit type 1 (SCN1A) and type 2 (SCN2A) genes were reported in patients with idiopathic epilepsy: generalized epilepsy with febrile seizures plus. Nonsense and frameshift mutations of SCN1A, by contrast, were identified in intractable epilepsy: severe myoclonic epilepsy in infancy (SMEI). Here we describe a first nonsense mutation of SCN2A in a patient with intractable epilepsy and severe mental decline. The phenotype is similar to SMEI but distinct because of partial epilepsy, delayed onset (1 year 7 months), and absence of temperature sensitivity. A mutational analysis revealed that the patient had a heterozygous de novo nonsense mutation R102X of SCN2A. Patch-clamp analysis of Na(v)1.2 wild-type channels and the R102X mutant protein coexpressed in human embryonic kidney 293 cells showed that the truncated mutant protein shifted the voltage dependence of inactivation of wild-type channels in the hyperpolarizing direction. Analysis of the subcellular localization of R102X truncated protein suggested that its dominant negative effect could arise from direct or indirect cytoskeletal interactions of the mutant protein. Haploinsufficiency of Na(v)1.2 protein is one plausible explanation for the pathology of this patient; however, our biophysical findings suggest that the R102X truncated protein exerts a dominant negative effect leading to the patient's intractable epilepsy.

Adult↗

PubMed2000

Pathophysiology of epilepsy.

This work reviews the current knowledge on epileptogenesis and pathophysiology of epilepsy. Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with febrile seizures, autosomal dominant nocturnal frontal lobe epilepsy, benign familial neonatal convulsions and episodic ataxia type 1 with partial seizures) have been identified, shedding new light on the pathophysiology of epilepsy as these diseases are caused by ion channel mutations. Although epileptic syndromes differ pathophysiologically, common ictogenesis-related characteristics as increased neuronal excitability and synchronicity are shared as well as mechanisms involved in interictal-ictal transition. Emerging insights point to alterations of synaptic functions and intrinsic properties of neurons as common mechanisms underlying hyperexcitability. This work also reviews the neurochemical mechanisms of epilepsy. An imbalance between glutamate and gamma-aminobutyric acid neurotransmitter systems can lead to hyperexcitability but catecholaminergic neurotransmitter systems and opioid peptides were shown to play a role in epileptogenesis as well. An overview of currently available anti-epileptic drugs and their presumed mechanisms of action is given as an illustration of the neurochemistry of epileptogenesis. Most anti-epileptic drugs exert their anti-epileptic properties through only a few neurochemical mechanisms that are meanwhile basic pathophysiological mechanisms thought to cause seizures.

Adult↗

PubMed2003

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 subunit (NaV1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of four GEFS+ alleles and one SMEI allele using whole-cell patch-clamp analysis of heterologously expressed recombinant human SCN1A. One previously reported GEFS+ mutation (I1656M) and an additional novel allele (R1657C), both affecting residues in a voltage-sensing S4 segment, exhibited a similar depolarizing shift in the voltage dependence of activation. Additionally, R1657C showed a 50% reduction in current density and accelerated recovery from slow inactivation. Unlike three other GEFS+ alleles that we recently characterized, neither R1657C nor I1656M gave rise to a persistent, noninactivating current. In contrast, two other GEFS+ mutations (A1685V and V1353L) and L986F, an SMEI-associated allele, exhibited complete loss of function. In conclusion, our data provide evidence for a wide spectrum of sodium channel dysfunction in familial epilepsy and demonstrate that both GEFS+ and SMEI can be associated with nonfunctional SCN1A alleles.

Electric Conductivity↗

PubMed1980

Ketamine activation of experimental corticoreticular epilepsy.

Generalized corticoreticular epilepsy was established in adult cats by parenteral penicillin, and electroencephalographic monitoring was carried out. Ketamine HCl was injected intravenously in doses of 2.5 to 20 mg per kilogram. If doses of penicillin were inadequate to establish typical spike-wave activity, ketamine induced the spike-wave pattern typical of much higher doses of penicillin. At doses of penicillin that established the spike-wave pattern, ketamine potentiated the spike-wave activity and sometimes induced spike-and-wave status. These findings suggest caution in the clinical use of ketamine in patients with corticoreticular epilepsy. Because analogous effects have been observed upon administration of GABA-mimetic agents, GABA systems may play a role in ketamine anesthesia and corticoreticular epilepsy. Precollicular brain transections failed to modify ketamine effects, excluding a possible influence of mesencephalic centers on the observed potentiation.

Animals↗

PubMed1987

Long-term treatment of epilepsy: open multicenter trial with progabide in epileptic patients.

A long-term open multicenter trial was carried out in 15 European centers with therapy-resistant epileptics to evaluate the efficacy and safety of progabide, a new antiepileptic GABA receptor agonist; 187 patients, suffering from partial epilepsy (57%), primary generalized epilepsy (20%), secondary generalized epilepsy (21%), and unclassified generalized epilepsy (2%), participated in the study. All patients had a total seizure frequency higher than one per month in spite of standard antiepileptic medication; 46% had a mean partial seizure frequency from daily to weekly. Progabide was administered at a mean daily dose of 30.5 mg/kg/day as an add-on to the standard antiepileptic drugs up to one year in 115 patients; 37 patients (19.8%) dropped out because of reasons which were not drug-related (bad compliance, lost to follow-up); in 12 patients (6.5%) progabide was withdrawn for side effects and in 20 (10.7%) for lack of efficacy. 71.3% of patients treated for one year (62% considering the 'cumulative' number of patients) experienced more than a 50% reduction in seizure frequency. This reduction was equally present in patients with partial epilepsy (63.9%) and with generalized epilepsy (62.2% of patients with primary and 57.1% with secondary generalized epilepsy). No signs of tolerance phenomena to the antiepileptic effect of progabide were observed. No side effects were reported in 56.7% of the patients. Clinical side effects were mild and transient, leading to progabide discontinuation in 6.5% of the patients only; an increase in SGPT was observed in 5.7% of the patients, these increases were transient and without any clinical symptom.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed2004

Effect of topiramate on intractable seizures in Taiwanese children.

We performed a prospective study to evaluate the effect of topiramate as an adjunctive therapy in Taiwanese children with intractable partial epilepsy and generalized epilepsy. Thirty children aged from 2 to 16 years (8.5 +/- 3.8 years) were enrolled in this study. Eighteen children (60.0%) had partial epilepsy, and 12 children (40.0%) had generalized epilepsy. These children were experiencing more than one seizure per month even under a stable antiepileptic regimen treatment. Topiramate was begun at 1 mg/kg x day, and the dosage was raised by 1 mg/kg x day each week. Titration continued for 4 weeks or more. The maximal dosage was 10 mg/kg x day. In children with partial epilepsy, six children (33.3%) achieved > or = 50% frequency reduction, while eight children (44.4%) achieved a seizure-free state. In children with generalized epilepsy, including infantile spasms, four children (33.3%) achieved > or = 50% frequency reduction, while five children (41.7%) achieved a seizure-free state. The most common adverse effect was poor appetite (10.0%). No idiosyncratic reactions to topiramate were found. Only one patient discontinued topiramate because of central hyperventilation. Topiramate can be used as an adjunctive antiepileptic drug for intractable epileptic children in Taiwan.

Adolescent↗

PubMed1979

Status epilepticus in childhood: a retrospective study of initial convulsive status and subsequent epilepsies.

A retrospective study was carried out on 261 patients with various epilepsies who had undergone convulsive status epilepticus prior to the subsequent onset of epileptic seizures. 1. Convulsive status epilepticus was found more in partial epilepsy and secondary generalized epilepsy at about the same rate, and evidently less in primary generalized epilepsy. On the average, three-fourths commenced their convulsive disorders with initial status epilepticus. 2. There were free intervals of years following initial status and preceding subsequent epilepsy. The interval was evidently shorter, less than two years, in a majority of patients with secondary generalized epilepsy, whereas the interval was mostly longer, more than six years, in patients with partial epilepsy. 3. The permanent deficient sequelae resulting from initial status were most closely associated with secondary generalized epilepsy. This was also exemplified by the higher rate of atrophic change on CCT. On the contrary, such permanent sequelae were less marked in partial epilepsy especially of complex seizure. 4. It was concluded that secondary generalized epilepsy resulted in cases with more severe brain damage within a relatively shorter interval, whereas complex partial seizure resulted from less severe damage with an obviously longer interval following convulsive status epilepticus.

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↗

PubMed1986

Laminar field potentials and unit activity in the cortex during visual evoked potentials in feline generalized penicillin epilepsy.

Modifications of the visual evoked potential during generalized epilepsy were investigated in feline generalized penicillin epilepsy. Visual evoked potentials and their intracortical profiles were averaged during intraburst periods and during the wave of the spike and wave complex to a fixed latency from the preceding spike. During interburst periods, the evoked potentials showed an increase in the amplitude of the early positive peak and the appearance after a variable latency period of a second consistent peak during the late phase of the evoked potential. Laminar profiles of visual evoked potentials and their current source density analysis compared with the activity of single cortical units suggested an early excitation of neuronal populations at layers II, III and IV, as seen before penicillin, followed by a variable inhibitory period and by a subsequent rebounded excitation at those same levels. In evoked potentials recorded during the wave of the spike and wave complex, the early phase was unchanged and the late positive peak and the corresponding deep sink were greatly reduced or nonexistent, although the rebounded activation of cortical units was still evident. These data support the conclusion that during feline generalized penicillin epilepsy a larger number of cortical neurons are activated and a sequence of excitation-inhibition-excitation, probably involving also subcortical structures, is brought about. Moreover, the inhibitory phase of the spike and wave complex is soon disrupted whenever a consistent sensory stimulus arrives at the cortex.

Action Potentials↗

PubMed1997

Feasibility and effects of nurse run clinics for patients with epilepsy in general practice: randomised controlled trial. Epilepsy Care Evaluation Group.

OBJECTIVE: To test the feasibility and effect of nurse run epilepsy clinics in primary care. DESIGN: A randomised controlled trial of nurse run clinics versus "usual care." SETTING: Six general practices in the South Thames region. SUBJECTS: 251 patients aged over 15 years who were taking anti-epileptic drugs or had a diagnosis of epilepsy and an attack in the past two years who met specified inclusion criteria and had responded to a questionnaire. MAIN OUTCOME MEASURES: Questionnaire responses and recording of key variables extracted from the clinical records before and after the intervention. RESULTS: 127 patients were randomised to a nurse run clinic, of whom 106 (83%) attended. The nurse wrote 28 letters to the general practitioners suggesting changes in epilepsy management. For this intervention group compared with the usual care group there was a highly significant improvement in the level of advice recorded as having been given on drug compliance, adverse drug effects, driving, alcohol intake, and self help groups. CONCLUSIONS: Nurse run clinics for patients with epilepsy were feasible and well attended. Such clinics can significantly improve the level of advice and drug management recorded.

Anticonvulsants↗

PubMed1997

The contribution of tertiary centers to the quality of the diagnosis and treatment of epilepsy. Osservatorio Regionale per l'Epilessia (OREp), Lombardy.

PURPOSE: A survey was made of a network of 14 epilepsy centers in Italy to assess whether integrated diagnosis and treatment monitoring led to a more precise syndromic classification of the patients and a better response to treatment. METHODS: Data on the diagnosis and treatment of epilepsy and the degree of seizure control were recorded in a register on 2 separate occasions, on June 30, 1990 (t0), before starting the integrated activities, and on June 30, 1992 (t1), on completion of a 2-year follow-up. Each patient's history was required to fit a specific category of the International Classification of the Epilepsies (ICE) (1). Response to treatment was classified as complete remission, occasional seizures, recurrent nonrefractory seizures, and drug-resistant epilepsy. A total of 3,469 patients of the ages of 4-80 years were enrolled. RESULTS: At t0, 44% of cases had localization-related epilepsy, 31% generalized epilepsy, 9% undetermined epilepsy, 6% special syndromes, and 10% epileptic syndromes with atypical features. At t1, the percentages in each category were 51, 27, 7, 6, and 9%. The cases classified as "other" within each syndromic category at t0 were 11-23% and remained unchanged at t1. Patients with symptomatic localization-related epilepsies were largely recoded as symptomatic or cryptogenic epilepsies. About one-third of patients with symptomatic generalized epilepsy were recoded as localization-related epilepsies. Nine percent of patients were classified as "uncertain" epilepsies at t0, and the same proportion at t1. However, many "uncertain" diagnoses became "definite" and vice versa. CONCLUSIONS: There was a slight increase in the proportion of patients achieving complete remission (from 13 to 28%) and untreated patients (from 10 to 17%). Nine percent of patients unresponsive to treatment at t0 had achieved remission at t1. Drug resistance was confirmed in 78% of cases and was mostly independent of the therapeutic decision. Ten percent of cases achieved remission with unchanged or simplified treatment schedules.

Adolescent↗

PubMed1997

Clinical correlates of CT abnormality in generalized childhood epilepsy in India.

The CT scan gives valuable insight into the aetiology of epilepsy. Studies done so far in India suggest that the causes are quite different from the West. CT scan has become available in larger cities in India, but is expensive. Information about clinical features that may 'predict' a CT abnormality would be useful to clinicians. The object was to determine which, if any, of 10 clinical features predict a CT abnormality in patients presenting with generalized epilepsy. Consecutive children with generalized epilepsy were enrolled prospectively and clinical features charted. Predetermined clinical variables were compared in those with and without CT abnormality. The setting was a pediatric in-patients and out-patients of a teaching hospital in northern India. One-hundred-and-sixty-two out of 178 consecutive children (age 1 month to 12 years) presenting with generalized epilepsy; ten clinical features viz seizure type, age at onset, number of seizures, duration of epilepsy, family/antecedent history, mental/neurological deficit, abnormal EEG and evidence of tuberculosis, were studied. Univariate analysis taking (1) CT abnormality/no abnormality and (2) ring/disc enhancing lesion/no such lesion on CT as outcomes. An abnormal CT scan was found in 79 (49 percent) patients. There were two high yield groups: (1) younger children with neurological/mental deficits; (2) older children without deficits. When these two groups were combined, odds ratio for CT abnormality was 3.06 (1.4-6.7). The commonest CT abnormality was a ring/disc like enhancing lesion seen in 32 patients. Higher age at onset (> 4 years), absence of mental/neurological deficits, generalized tonic-clonic type of seizures and fewer episodes of seizures at presentation were significantly associated with this finding. In addition to existing indications for CT scan, these results can guide physicians when referring patients for this investigation.

Brain↗