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PubMed1993

Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region.

Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds. Linkage analysis has been undertaken in a third set of 25 families including a patient with JME and at least one first-degree relative with IGE. Family members were typed for eight polymorphic loci on chromosome 6p: F13A, D6S89, D6S109, D6S105, D6S10, C4B, DQA1/A2, and TCTE1. Pairwise and multipoint linkage analysis was carried out assuming autosomal dominant and autosomal recessive inheritance and age-dependent high or low penetrance. No significant evidence in favor of linkage was obtained at any locus. Multipoint linkage analysis generated significant exclusion data (lod score < -2.0) at HLA and for a region 10-30 cM telomeric to HLA, the extent of which varied with the level of penetrance assumed. These observations indicate that genetic heterogeneity exists within this epilepsy phenotype.

Adolescent↗
PubMed1991

Amantadine hydrochloride for refractory generalized epilepsy in adults.

Amantadine hydrochloride has been shown in several open studies to benefit children with refractory generalized epilepsy. We used amantadine as adjunctive therapy in 10 adolescents and adults with generalized tonic-clonic, myoclonic, or absence seizures refractory to therapeutic levels of valproate, carbamazepine, phenytoin, and benzodiazepines. Seven patients were men and 3 were women aged 18-29 years, and 8 of 10 patients were mentally retarded. All patients had generalized epileptiform paroxysms on EEG, with generalized or absence seizure recorded in 9. Five patients had both absence and tonic-clonic seizures, and 2 had all three seizure types. Amantadine was added to the existing regimens in weekly increments to 400 mg/day. Two patients had greater than 90 per cent seizure reduction, both with vomiting and somnolence. Two patients had seizure reduction between 50 and 90 per cent, 1 with anorexia and sleepiness. Three patients had no change in seizures, and 3 had worse tonic-clonic seizures. Amantadine may have some antiepileptic efficacy of unknown mechanism, but it may worsen generalized tonic-clonic seizures and is likely to be of limited value in adults.

Adolescent↗
PubMed2004

The MR detection of neuronal depolarization during 3-Hz spike-and-wave complexes in generalized epilepsy.

Previously, an analysis of activations observed in a patient with idiopathic generalized epilepsy using electroencephalogram-correlated functional magnetic resonance imaging (MRI) during runs of 3-Hz generalized spike-wave discharge (GSWD) was presented by Salek-Haddadi. Time-locked, bilateral, thalamic blood oxygenation level-dependent increases were reported to be accompanied by widespread, symmetric, cortical deactivation with a frontal maximum. In light of recent investigations into MRI detection of the magnetic field perturbations caused by neuronal current loops during depolarization, we revisited the analysis of the data of Salek-Haddadi as a preliminary search for a neuroelectric signal. We modeled the MRI response as the sum of a fast signal and a slower signal and demonstrated significant MRI activity at a time scale of the order of 30 ms associated with GSWDs. Further work is necessary before firm conclusions may be drawn about the nature of this signal.

Cerebral Cortex↗
PubMed2005

Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes.

Clinical experience in open-label studies and anectodal reports suggest that levetiracetam is effective in generalized epilepsy. In this open-label prospective study, 19 patients (3 men, 16 women) affected by idiopathic generalized epilepsy were followed for at least 6 months following the introduction of levetiracetam. Patients were categorized according to syndrome subtype: juvenile myoclonic epilepsy (8), juvenile absence epilepsy (5), childhood absence epilepsy (4), and eyelid myoclonia with absences (2). Eleven patients received levetiracetam as monotherapy, eight as add-on therapy. Effectiveness was demonstrated in 18 patients: 13 became seizure-free (five juvenile myoclonic epilepsy, five juvenile absence epilepsy, three childhood absence epilepsy), and five achieved significant reductions in seizure frequency (three juvenile myoclonic epilepsy, one childhood absence epilepsy, one eyelid myoclonia with absences). Only one patient experienced no change in seizure frequency (eyelid myoclonia with absences). Clinical improvement was accompanied by EEG abnormality suppression or reduction. Levetiracetam was well tolerated; no patient reported side-effects.

Anticonvulsants↗
PubMed1997

Central benzodiazepine/gamma-aminobutyric acid A receptors in idiopathic generalized epilepsy: an [11C]flumazenil positron emission tomography study.

PURPOSE: Previous [11C]flumazenil (FMZ) positron emission tomography (PET) investigations in patients with idiopathic generalized epilepsy (IGE) have demonstrated nonsignificant global cortical decreases in central benzodiazepine gamma-aminobutyric acid A (GABA[A]) receptor (cBZR) binding or focal decreases in the thalamus and increases in the cerebellar nuclei with no changes in cerebral cortex. We previously reported lower [11C]FMZ binding in cerebral cortex of IGE patients treated with valproate (VPA) than in cerebral cortex of controls. We now report high-resolution three-dimensional [11C]FMZ PET studies in a larger number of subjects using an improved method to detect differences in cBZR between IGE patients and controls and a more powerful longitudinal design to determine the functional effect of VPA. METHODS: We compared parametric images of [11C]FMZ volume of distribution (FMZVD) in 10 IGE patients before and after addition of VPA and in 20 normal subjects. RESULTS: Mean FMZVD was significantly higher in the cerebral cortex (11%, p = 0.009), thalamus (14%, p = 0.018), and cerebellum (15%, p = 0.027) of the 10 IGE patients as compared with that of 20 normal controls. Using statistical parametric mapping, no significant areas of focal abnormality of FMZVD were detected. Addition of VPA was not associated with a significant change in mean FMZVD in any brain area. CONCLUSIONS: Our finding of increased FMZVD in IGE could reflect microdysgenesis or a state of cortical hyperexcitability. Our data suggest that short-term VPA therapy does not affect the number of available cBZR in patients with IGE.

Adult↗
PubMedDate not supplied

Clinical and pharmacokinetic observations on valproate: a 3 year follow-up study in 100 children with generalized epilepsy.

The results of a 36 month observation of therapeutic effects of various schemes of long-term monitored treatment of primary generalized epilepsy with Valproate (VPA) derivatives is presented. A hundred children and adolescents aged 5-15 constituted the experimental group. In each of 3 groups the drug was administered in individually assessed doses. An optimal antiepileptic clinical effect of VPA was achieved thanks to therapeutic monitoring, especially pharmacokinetic studies.

Adolescent↗
PubMed2001

Time-related configuration change in benign focal epileptiform discharges of childhood: from a dipole to a negative monopole in a patient with generalized epilepsy.

The case of a 6-year-old child with generalized epilepsy and benign focal epileptiform discharges (BFEDs) of childhood is presented. During his first EEG, performed when he was 6 years old, the patient had three staring episodes accompanied by bursts of 3-Hz spike-and-wave complexes. Interictally, frequent BFEDs were seen, configured as dipoles with a right temporal negativity and a right frontal positivity. The patient was administered ethosuximide and the staring spells disappeared. On follow-up EEG performed 2 years later, no generalized discharges were seen. However, the EEG again showed frequent spikes with a characteristic morphology of BFEDs. This time they were not configured as dipoles, but as monopoles with a maximum negativity over the right frontal region. The change in the generator's orientation over time (from a horizontal to a vertical dipole) is discussed, as well as the prognostic implications of the morphology and configuration of focal spikes. In addition, the authors review the coexistence of BFEDs and 3-Hz spike-and-wave complexes in their patient database.

Child↗
PubMed2004

Primary generalized epilepsy during infancy and early childhood.

The present study delineates a benign generalized epileptic disorder during infancy and early childhood similar to the well-defined syndrome of primary generalized epilepsy in adolescence. The inclusion criteria for the study required infants under the age of 4 years mainly presenting with generalized nonfebrile seizures, requiring corroboration with generalized epileptic discharges on electroencephalograms (EEGs); an unremarkable pregnancy, labor, and perinatal course; a favorable response to antiepilepsy drugs, preferably monotherapy; and a normal cognitive outcome. The clinical features of seizures, EEG correlates, response to medications, developmental outcome, and family history were analyzed. Twenty-five infants fulfilled the inclusion criteria, presenting at ages 4 to 36 months (mean 17 months) with recurrent generalized clonic seizures, which were commonly short-lived, lasting up to 5 minutes; two infants also had status epilepticus. Fourteen infants (56%) had accompanying febrile seizures, which preceded the nonfebrile seizures in 10 of them. A positive family history of seizures was found in 8 (32%) patients. Analysis of the EEG showed generalized epileptiform discharges in the form of 3 to 4 Hz spike-wave and normal background activity in 21 patients (84%), with a photosensitive response induced in 3 children. A larger group of 18 infants promptly responded to therapy, mainly valproic acid, which was terminated after 2 years, along with EEG normalization and no recurrence of seizures. A smaller group of 7 patients require prolonged therapy that keeps them seizure free; the EEG remains paroxysmal, and the seizures could recur when treatment is discontinued. All patients are presently seizure free within a follow-up period of 1.5 to 14 years. Their cognition is normal, but 12 patients have short attention and concentration spans, impulsiveness, and learning difficulties. As such, the data presented here delineate an idiopathic generalized epileptic disorder during infancy with a benign course, a rapid response to therapy, and preservation of cognitive skills that may be added to the current classification of the epileptic syndromes.

Anticonvulsants↗
PubMed2005

[Control of the efficacy of the treatment of juvenile idiopathic generalized epilepsy and "pseudoremission"].

The aim of the study was to evaluate efficacy of antiepileptic therapy (AT) in patients with juvenile types of idiopathic generalized epilepsy (IGE) and to elucidate factors that may reduce it. Forty-four patients with IGE, who received AT and were featured, according to self-rating and relative's estimation, by stopping of the seizures, have been studied. Prolonged video-EEG monitoring revealed a high frequency of registered epileptic seizures in the apparent remission: in 28 cases (59.5%) out of 47, there was epileptiform activity and in 16 (34%)--epileptic seizures. The results allowed us to formulate a definition of "pseudoremission"--a condition, which occurs in patients with epilepsy treated by antiepileptic drugs when the seizures are not diagnosed by the patient and his relatives. Criteria of pseudoremission are the following: a verified diagnosis of epilepsy, antiepileptic therapy, no seizures as assessed by the patient and relatives, VEM evidence of the present epileptic seizures. Pseudoremission requires urgent correction of antiepileptic therapy and prolongation of the treatment.

Adolescent↗
PubMed2004

Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism.

Haptoglobin is a polymorphic protein that is well known for its hemoglobin (Hb)-binding property. The protein shows gross differences in molecular size among genotypes, resulting in different degrees of diffusion in central nervous system tissue. Since the breakdown of erythrocytes in the intracerebral fluid results in Hb-mediated free OH radical formation, lipid peroxidation, and increased neuronal excitability, a differential diffusion of haptoglobin phenotypes in the intracerebral fluid might result in a different degree of protection from oxidative damage. We have studied two samples of children with idiopathic generalized epilepsy from two different Italian populations. In both samples the haptoglobin *1/*1 genotype is much less represented in epileptic children than in controls. These observations suggest that subjects carrying the Hp*1/*1 genotype, that has the lowest molecular size and diffuses more readily in the interstitial cerebral fluid, are more protected against idiopathic generalized epilepsy than those with other haptoglobin genotypes.

Adult↗
PubMed1995

[The effect of valproic acid monotherapy on behavior and cognitive performance of children with idiopathic generalized epilepsy].

Valproic acid (VPA) currently plays an important role in the treatment of several different types of epilepsy. Especially in children and adolescents, VPA is used because of a minimum of adverse effects and generally little impact on cognitive and psychomotor functions. However, reports in the literature regarding the influence of VPA on behavior and cognitive performance and on EEG parameters vary widely. We investigated the effect of VPA monotherapy on behavioral components (attention, concentration, inhibitory control), cognitive efficiency (motor reaction time, learning, retention) and evoked potentials in 19 children aged 6 to 14 years with idiopathic generalized epilepsy and compared the results with those of healthy controls matched for age. In addition, we analyzed the serum levels of VPA and some of the VPA metabolites in all of the children with epilepsy immediately before the psychophysiological assessments. Our results show marked differences between the children with epilepsy and the healthy controls in all types of behavior and cognitive performance assessed. Abnormal behavior (disturbances of attention and concentration, impulsive behavior patterns) and significant changes in evoked potentials appear to be correlated with serum levels of VPA and certain VPA metabolites.

Adolescent↗
PubMed1989

Rhythmic auditory stimulation in generalized epilepsy.

Activation of spike-wave discharges by photic stimulations (PS) and rhythmic auditory stimulations (AS) was investigated in 40 patients with generalized epilepsy and 25 controls. PS produced spike-wave discharges in 23 (55%) and AS in 12 (33%) cases. In 4 patients AS activated spike-wave discharges but PS failed to do so. AS may be occasionally used in generalized epilepsy as an activating method when standard procedures such as hyperventilation and PS fail.

Acoustic Stimulation↗
PubMed2006

Generalized epilepsy and classic spike-wave discharges with unilateral thalamic lesions.

BACKGROUND: Idiopathic generalized epilepsy (IGE) is a heterogeneous condition with a predominantly genetic origin. Clinical hallmarks of IGE syndromes include generalized spike and wave discharges and normal results on brain imaging. OBJECTIVE: To describe 2 patients with clinical presentations compatible with IGE but whose imaging studies revealed unilateral thalamic lesions. DESIGN: Case reports. SETTING: University-affiliated hospitals. PATIENTS: Two 21-year-old patients (1 man and 1 woman). MAIN OUTCOME MEASURES: Magnetic resonance imaging findings. RESULTS: Magnetic resonance imaging unexpectedly revealed unilateral thalamic lesions. CONCLUSIONS: We recommend doing magnetic resonance imaging studies in patients with IGE, especially in refractory or atypical cases. In rare cases, clinical features compatible with IGE may be associated with structural thalamic or other lesions.

Adult↗
PubMed2003

Proton MRS reveals frontal lobe metabolite abnormalities in idiopathic generalized epilepsy.

OBJECTIVE: To assess gamma-aminobutyric acid (GABA) plus homocarnosine (GABA+) and glutamate plus glutamine (GLX) concentrations in the frontal lobes of patients with idiopathic generalized epilepsy (IGE). METHODS: Twenty-one patients and 17 healthy volunteers were studied. A single voxel was prescribed in each frontal lobe for each subject. Point-resolved spectroscopy (PRESS)-localized short echo time MR spectroscopy (MRS) was performed to measure GLX and the metabolites N-acetylaspartate plus N-acetylaspartylglutamate (NAAt), creatine and phosphocreatine (Cr), choline-containing compounds (Cho), and myo-inositol (Ins). A double quantum GABA filter was used to measure GABA+. Segmented T1-weighted images gave the tissue composition of the prescribed voxel. RESULTS: Group comparisons showed elevation of GLX and reduction of NAAt in the patient group (p < 0.05). The metabolite ratios GLX/NAAt and GLX/Ins also showed elevation in IGE (p = 0.01). No group effect was observed for GABA+, Cr, or Cho. Ins concentrations were not significantly reduced in the patient group but were less in the subgroup of patients who were taking sodium valproate. CONCLUSIONS: IGE was associated with bilateral frontal lobe metabolite changes. Elevation in GLX was observed, which may imply increased neuronal excitability, whereas reduction in NAAt suggests reduced overall neuronal numbers or neuronal dysfunction.

Adolescent↗
PubMed1986

A trial of discontinuation of barbiturates in patients with secondary generalized epilepsy.

The vast majority of patients with secondary generalized epilepsy (SGE) were under polytherapy including barbiturates. We were able to completely withdraw barbiturates in 17 cases with a refractory course of SGE. Valproic acid (VPA) is considered as one of the best drugs for SGE. Barbiturates decrease the serum level of VPA and this may lead to a reduced efficacy of VPA. The dosage of VPA was adjusted to attain the level of 100-150 micrograms/ml. Barbiturates were then gradually decreased and finally discontinued. After six months of follow-up, 13 patients (76%) showed a reduced seizure frequency. Also, the physical and psychological conditions improved in a good number of cases. Barbiturates are not necessarily required in pharmacotherapy of SGE and may be safely withdrawn.

Adolescent↗
PubMed1996

Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor alpha 1 and gamma 2 subunit gene cluster on chromosome 5.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The pivotal function of ionotropic gamma-aminobutyric acid type A receptors (GABRs) in inhibitory neurotransmission in the mammalian central nervous system suggests that they may be involved in epileptogenesis and genetic predisposition to IGEs. Dinucleotide repeat polymorphisms associated with the human GABAA receptor alpha 1 (GABRA1) and gamma 2 subunit (GABRG2) gene cluster on chromosome 5q32-q35 offer the opportunity to test whether these candidate genes confer susceptibility to IGEs. Our linkage analyses in 63 families ascertained through IGE patients with either juvenile myoclonic epilepsy, juvenile absence epilepsy or childhood absence epilepsy do not support the hypothesis that variants within the GABRA1 and GABRG2 gene cluster contribute a frequent major gene effect to the expression of the common familial IGEs.

Base Sequence↗
PubMed2000

Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15.

An inverted duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Though epilepsies associated with inv dup(15) chromosomes are often intractable, there have been very few reports regarding the seizure manifestations or types. We report a patient with severe mental retardation and intractable epilepsy, associated with an inv dup(15) chromosome. The seizures recorded with EEG-VTR monitoring were axial and generalized tonic seizures, and our case was diagnosed as symptomatic generalized epilepsy. Molecular and cytogenetic analysis showed an inv dup(15) chromosome containing the Prader-Willi syndrome/Angelman syndrome region mapped within bands 15q 11-q13.

Adult↗