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PubMedDate not supplied

[New drugs in the treatment of childhood epilepsy: vigabatrin (study of 61 subjects)].

This study was conducted to determine the efficacy of vigabatrin in children with epilepsy. Sixty-one children with various types of severe epilepsy were studied. In 12 children vigabatrin was introduced as monotherapy, while in 49 it was added to other antiepileptic drugs. Following the introduction of vigabatrin, 17 patients became seizure free, and 19 responded with a greater than 50% reduction in seizure frequency. The following types of epilepsy responded favorably to treatment (in order of decreasing efficacy): West syndrome, especially if secondary to Tuberous Sclerosis; cryptogenic and symptomatic partial epilepsy; Lennox-Gastaut syndrome, and other symptomatic generalized epilepsy. Optimal responses were found with vigabatrin doses of 30 to 50 mg/kg/day. Forty-one responders continued on vigabatrin, with generally good efficacy. Vigabatrin tolerability was good; in only 6 children was treatment discontinued because of side-effects such as somnolence, irritability, weight gain, and cutaneous rash. This study shows that vigabatrin is effective in the treatment of refractory epilepsy, especially in West syndrome secondary to Tuberous Sclerosis, partial epilepsy, and Lennox-Gastaut syndrome. Further studies are needed to analyze the increased frequency of seizures and the appearance of new seizure types associated with vigabatrin treatment.

4-Aminobutyrate Transaminase↗

PubMedDate not supplied

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). An oligogenic or polygenic predisposition is suspected in the majority of families with common IGE syndromes. It has been hypothesized that some IGE genes might increase the general level of neuronal excitability while others specify the age of onset and the seizure type. The EFHC1 gene on 6p12-p11 was previously described as the first susceptibility gene for juvenile myoclonic epilepsy (JME). EFHC1 codes for a protein of unknown function that is characterized by Ca2+-binding EF-hand motifs and DM10 domains. We have now cloned the brain-expressed paralog EFHC2 (Xp11.3) and carried out an association study of six single nucleotide polymorphisms (SNPs) in a large sample of 654 German IGE patients and 662 population controls. A tentative association was found between the amino acid exchange S430Y in exon 9 of EFHC2 and 97 male JME patients (chi2=4.705, d.f.=1, P=0.030; OR=2.17; 95-CI: 1.06-4.43). The allelic association was even stronger for the 81 males with "classical" JME (JME without absence seizures) (chi2=6.06, d.f.=1, P=0.014; OR=2.46; 95-CI: 1.18-5.13). An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in JME maternal inheritance of JME. Independent replication studies are needed to further analyse the tentative association described here.

Chi-Square Distribution↗

PubMedDate not supplied

[Electroencephalographic studies of family members of patients with juvenile myoclonic epilepsy].

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy (IGE); it has a clinical and probably a strong genetic relation to the other IGE forms. Generalized spike/polyspike-wave discharges (SW/PSW) are typical of all IGEs. The aim of our study was to determine the incidence of epilepsy and SW/PSW in EEG of family members of 12 JME patients. 35 first degree relatives aged over 15 years were examined. 40 min EEG with 5 min HV were recorded. IGE was diagnosed in 3 (8.6%) persons: JME in 2 and childhood absence epilepsy (CAE) in 1 person. Six more relatives (17.1%) had typical SW/PSW traits in EEG. Thus the IGE features were found in 9 (25.7%) individuals--members of 7 out of 12 families (58%). EEG of 7 other relatives (20%) revealed non-specific episodic diffuse or focal abnormalities. The above results reveal higher incidence of different kinds of ICEs and typical EEG traits in families of JME patients. This findings confirm familial susceptibility to IGE and may be helpful in genetical counselling.

Adolescent↗

PubMed2002

Aggravation of partial seizures by antiepileptic drugs: is there evidence from clinical trials?

OBJECTIVES: To assess clinical trials for evidence that antiepileptic drugs (AED) aggravate partial seizures. To determine if the methodology used to examine drug efficacy can also be used to examine seizure aggravation. BACKGROUND: It is widely accepted that AED aggravate epilepsy in some patients. However, there is little published objective or quantitative evidence. Most reports concern generalized epilepsies. METHODS: Pharmaceutical companies responsible for the development of five of the new AED were asked to provide data concerning seizure increases during randomized placebo-controlled, add-on clinical trials in patients with uncontrolled partial seizures. Seizure frequency in individual patients taking drug or placebo was compared with the baseline pretreatment seizure frequency. The counterpart of the 50% reduction used in efficacy analyses is a 100% increase, because both represent a twofold change. A dose-response relationship was also explored. RESULTS: More than 40% of subjects in clinical trials of tiagabine (TGB), topiramate (TPM), and levetiracetam (LEV) experienced an increase in seizures while taking a placebo. Seizure increases were no more likely to occur when taking any of the three drugs than taking placebo. A doubling or more of seizure frequency was less likely to occur with TPM or LEV than with placebo but more likely with TGB. However, for TGB, this did not reach significance. There was some evidence for a dose-response effect with TGB but a negative effect with TPM (aggravation less likely with increasing dose). Data on gabapentin and lamotrigine were not provided. CONCLUSIONS: Many patients with partial seizures experience an increase in seizures when a new AED is added to their therapy. However, it occurs no more frequently when taking drug than placebo. It probably represents the spontaneous fluctuation of seizure frequency. When a patient who has started a new AED deteriorates, this is not necessarily a drug effect.

Anticonvulsants↗

PubMed2005

Frequent seizures and polytherapy can impair quality of life in persons with epilepsy.

CONTEXT: Careful evaluation of pharmacotherapy, seizure control and quality of life (QOL) are helpful in improving epilepsy care but such data are relatively meager from developing countries. AIMS: To audit pharmacotherapy, seizure control and QOL in persons with epilepsy and to identify factors associated with impaired QOL. SETTINGS AND DESIGN & MATERIALS AND METHODS: The study was carried out using a cross-sectional design in the setting of a tertiary care epilepsy center in India. Persons with epilepsy with > 12 months follow-up at this Center and aged > 16 years were eligible for enrollment. Persons with other disabilities or pregnancy were excluded. Subjects were interviewed with a standard questionnaire and an adapted version of Quality of Life in Epilepsy - 31 (QOLIE-31). Data pertaining to treatment at the time of referral to this center was extracted from medical records. STATISTICAL ANALYSIS USED: Chi-square test, analysis of variance and multiple regression analysis were carried out for statistical significance. RESULTS: One hundred and twelve patients with epilepsy (59 males, mean age 31.2+/-10.7 years) were included. Forty-seven (42%) persons had Generalized Epilepsy (GE) and 65 persons (58%) had Localization-Related Epilepsy (LRE). At entry 24 persons (21.4%) were not on treatment and 59 persons (64.8%) had frequent seizures. At last follow-up 64 persons (57.1%) were seizure-free, 83 persons (74.1%) were on monotherapy and 29 were (25.9%) on polytherapy. Cost of drug at entry was INR 2276 (monotherapy) and INR 3629 (polytherapy) (45 INR = 1 USD). At the time of last follow-up, it was 1898 and 4929 respectively. QOLIE-31 Total Score (TQOL) ranged from 22.6 to 94.4 (mean 68.0 +/- 15.8). Multiple regression analysis showed significant correlation between low TQOL score and polytherapy (P=0.002) and occurrence of one or more seizures per month (P=0.001). CONCLUSIONS: Frequent seizures and polytherapy are associated with lower QOL in persons with epilepsy.

Adolescent↗

PubMed2006

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, speech disorder, stereotyped jerky movements, and a peculiar behavioral profile, with a happy disposition and outbursts of laughter. Most patients with AS present with epilepsy and suggestive electroencephalographic patterns, which may be used as diagnostic criteria. OBJECTIVE: To study epilepsy and response to treatment in a series of patients with AS determined by deletion. DESIGN: Parent and caregiver interview and medical record review. SETTING: Epilepsy Center at the University of São Paulo. PATIENTS: Nineteen patients with AS determined by deletion of chromosome 15q11-13. MAIN OUTCOME MEASURES: Epilepsy severity, epilepsy evolution, and response to antiepileptic drug treatment. RESULTS: All patients with AS in this group had generalized epilepsy, and 10 (53%) also had partial epilepsy. Main seizure types were atypical absences and myoclonic and tonic-clonic seizures. Mean age at onset was 1 year 1 month. Epilepsy aggravated by fever occurred in 10 patients (53%) and status epilepticus in 16 (84%). Eighteen patients (95%) had previous or current history of daily seizures, of which 14 (64%) had disabling seizures. Multiple seizure types were observed in 13 patients (53%). History of refractory epilepsy was reported in 16 patients (84%). Parents reported improvement, characterized by decrease in seizure frequency or seizure control, at the mean age of 5.3 years. Therefore, most of these patients had a period of refractory epilepsy; however, improvement occurred during late childhood and puberty. The best therapeutic response was obtained with valproic acid alone or in association with phenobarbital or clonazepam. Epilepsy was aggravated by carbamazepine, oxcarbazepine, and vigabatrin. CONCLUSIONS: Patients with AS with deletion have epilepsy with early onset and stereotyped electroclinical profile regarding seizure type, severity, and response to antiepileptic drug treatment. Another feature of AS is the age-related improvement, even in refractory cases, during late childhood and puberty. These characteristics are not specific to this syndrome but, when inserted in the proper clinical context, may anticipate diagnosis. We believe that AS should be considered a differential diagnosis in developmentally delayed infants with severe, generalized, cryptogenic epilepsy; however, a proper electroclinical delineation of each genetic group is mandatory.

Adolescent↗

PubMed2006

Pediatric experience with sudden unexplained death in epilepsy at a tertiary epilepsy center.

Sudden unexplained death in epilepsy is rare in children, and few studies report risk factors. We reviewed our experience with 17 cases of sudden unexplained death in epilepsy to determine risk factors in children. The charts of all patients with onset of epilepsy at less than age 18 years who suffered sudden unexplained death in epilepsy between August 1992 and April 2004 at our epilepsy center were retrospectively reviewed. Deaths were classified as possible, probable, or definite sudden unexplained death in epilepsy. There were seven cases of definite, nine cases of probable, and one case of possible sudden unexplained death in epilepsy. Generalized tonic-clonic seizures and prone position during sleep were found to be major risk factors. Sudden unexplained death in epilepsy in children and adolescents is associated with convulsive seizures, and aggressive treatment of nocturnal generalized tonic-clonic seizures might help lower the occurrence.

Adolescent↗

PubMed2006

Prevalence of epilepsy in a rural district of central Lao PDR.

PURPOSE: To assess the prevalence of epilepsy in a rural district of Lao PDR and to describe the clinical and epidemiological profile of the disease. METHODS: Door-to-door screening was performed on the entire population of 8 randomly selected villages in the Hinheub district, using an internationally validated and standardized questionnaire. Additional passive case detection was performed through village key informants. Suspected epilepsy patients identified by the questionnaire were revisited and examined by an experienced neurologist on two follow-up visits. The confirmation of epilepsy was based only on an in-depth clinical examination. Electroencephalograms were performed at the district health care center. RESULTS: In the 8 villages, 277 suspected cases of epilepsy were identified among 4,310 interviewed subjects; 194 of whom (70%) underwent a clinical examination by a neurologist during the first visit while 65 of 83 remaining suspected cases were seen on the second confirmation visit. Twenty-seven persons with epilepsy were identified. Six additional patients were diagnosed in 219 self-referred subjects. An overall prevalence of 7.7 cases of epilepsy per thousand inhabitants was calculated (95% CI 5.3-10.7). Generalized epilepsy (21 cases, 63.6%) was commoner than partial epilepsy (9 cases, 27.3%). The remaining 3 cases (9.1%) were not-classifiable as either generalized or partial. EEG abnormal findings were found in 12 of the 24 patients (50.0%) who had an EEG registration. CONCLUSIONS: This is the first study in Lao PDR to estimate the prevalence of epilepsy. Compared to Western countries it shows a pattern towards a higher prevalence.

Adolescent↗

PubMed1991

[Bioelectric activity of the cerebral cortex in patients with secondary generalized form of epilepsy under hypnosis].

A study was made of brain bioelectric activity in patients with secondarily generalized epilepsy under hypnosis. The disease manifestations were dependent on whether the site of the focus was in the right or in the left hemisphere. Hypnotic trance changes the neurodynamics of the focus and the level of interhemispheric relations, which depends on the focus lateralization. The authors demonstrate possibilities of that state, both positive connected with the diagnosis and treatment and negative ones restricting the use of hypnotherapy in the presence on the EEG of frequent epileptic phenomena or their slight provocation by hyperventilation.

Action Potentials↗

PubMed2002

Molecular basis of an inherited epilepsy.

Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising from largely unknown cellular and molecular mechanisms. In generalized epilepsy with febrile seizures plus, an autosomal dominant epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) have been identified. Here, we characterize the functional effects of three mutations in the human neuronal sodium channel alpha subunit SCN1A by heterologous expression with its known accessory subunits, beta1 and beta2, in cultured mammalian cells. SCN1A mutations alter channel inactivation, resulting in persistent inward sodium current. This gain-of-function abnormality will likely enhance excitability of neuronal membranes by causing prolonged membrane depolarization, a plausible underlying biophysical mechanism responsible for this inherited human epilepsy.

Cells, Cultured↗

PubMed1995

The phenotypic spectrum related to the human epilepsy susceptibility gene "EJM1".

Linkage studies of families ascertained through patients with juvenile myoclonic epilepsy (JME) suggest that an HLA-linked susceptibility gene on chromosome 6, designated "EJM1," predisposes to a group of idiopathic generalized epilepsies (IGEs) comprising JME, juvenile absence epilepsy (JAE), childhood absence epilepsies (CAE), and epilepsies with generalized tonic-clonic seizures (GTCS). To explore the EJM1-related phenotypic spectrum, we conducted linkage studies with HLA-DQ alpha restriction fragment length polymorphisms in 44 families ascertained through patients with CAE or JAE. Our results for the entire group of families provide evidence against a major susceptibility locus for idiopathic absence epilepsies and broader spectra of IGEs in the HLA region. Lod scores less than -2 were obtained for a region from 10 cM up to 23 cM on either side of the HLA-DQ alpha locus, depending on the assumed trait model. Suggestive evidence for linkage was found only for a subgroup of families with JME patients assuming an autosomal dominant mode of inheritance with 70% penetrance. A maximum lod score was obtained when family members with JME, JAE, CAE, and idiopathic GTCS were included into the affection status. Our results demonstrate that (1) the genetic susceptibility to idiopathic absence epilepsies and broader spectra of IGEs is heterogeneous, (2) the gene effect of EJM1 depends on the familial genetic background, and (3) EJM1 confers genetic susceptibility to idiopathic absence epilepsies and broader spectra of IGEs in the presence of family members with JME.

Disease Susceptibility↗

PubMed2000

Epilepsy with grand mal on awakening and sleep-waking cycle.

Awakening epilepsy (AE) is an age related syndrome of idiopathic generalized epilepsy (IGE) characterized by generalized tonic clonic seizures (GTCS) occurring predominantly on awakening (independent of the time of day) or at leisure time (almost at evening). The GTCS can be the only symptom or they can be combined with the other subsyndromes of IGE in childhood or adolescence. The EEG shows the characteristics of IGE (generalized spike wave frequent, foca1 abnormalities rare, photosensitivity increased). The common denominator of external seizures precipitating influences is lack of sleep. The sleep habits of patients with AE who could roughly be characterized as late sleepers and late risers may dispose them to a chronic sleep deficit. Polygraphic studies indicated that their sleep is more unstable and subject to external influences. Microstructural sleep analysis confirms the presence of a disturbance of sleep stability in patients with IGE. Furthermore, it clearly shows that in the prototype of AE, the juvenile myoclonic epilepsy, the epileptiform activity during non-REM sleep is correlated with the arousal phase of the so called cyclic alternating pattern indicating that even in the smallest sleep-waking oscillations awakening is the most sensitive part.

Epilepsy, Tonic-Clonic↗

PubMed2006

Focal epileptiform spikes in conjuction with K-complexes.

Dyshormia or epileptiform spikes occurring within K-complexes have been described in patients with generalized epilepsy, with one study reporting that generalized spikes occurred frequently in association with K-complexes. We report the rate of focal epileptiform spikes occurring within K-complexes in localization-related epilepsy. Presurgical or diagnostic long-term video-EEG results of 40 consecutive patients with epilepsy (13 patients with right temporal lobe epilepsy, 20 patients with left temporal lobe epilepsy, and 7 patients with frontal lobe epilepsy) were reviewed. Sleep samples were reviewed and the numbers of K-complexes, spikes, and spikes within K-complexes were recorded. The comparison group consisted of 40 consecutive patients with nonepileptic events who were monitored with long-term video EEG. Focal epileptiform spikes occurring within K-complexes occurred in 2 of 13 (15%) patients with right temporal lobe patients, 6 of 20 (30%) patients with left temporal lobe, and 3 of 7 (42%) patients with extratemporal lobe epilepsy. In most patients, spikes occurring during K-complexes were rare. We identified spikes occurring during K-complexes in patients with localization-related epilepsy. The sharply contoured components of K-complexes or associated sleep spindles may obscure focal spikes within K-complexes. Nevertheless, K-complexes may be associated with focal epileptiform discharges.

Adolescent↗

PubMed2000

Magnetization transfer and diffusion-weighted imaging in nocturnal frontal lobe epilepsy.

The authors assessed the presence of brain abnormalities in 21 patients with nocturnal frontal lobe epilepsy (NFLE), using magnetization transfer ratio (MTR) and mean diffusivity (;D) histograms. Compared with healthy volunteers and patients with idiopathic generalized epilepsy, patients with NFLE had lower MTR (p = 0.002 and 0.01) and;D (p = 0.03 and 0.04) histogram peak heights. Subtle and widespread abnormalities related to intra- and extracellular distribution and motion of water are detectable in the brains of patients with NFLE.

Adolescent↗

PubMed1995

[Sexual dysfunction in men and epilepsy].

Sexual dysfunctions may represent a symptomatological aspect of epilepsy or it may be a consequence of the pharmacological therapy. This kind of trouble is frequently associated to primary generalized epilepsy and focal secondary epilepsy. In our investigation we considered a group of 30 males during treatment with drugs like phenobarbital, carbamazepine and valproate, at the "Center for the Study and the Treatment of Epilepsy", University of Turin, using a sexological and psychosomatic questionnaire. The purpose was the analysis of the sexuality in relation to a specific kind of epilepsy or to a particular drug.

Adolescent↗

PubMedDate not supplied

[Optimizing epilepsy therapy in children and adolescents with lamotrigine].

Lamotrigine is a broadly effective antiepileptic drug in mono- and add-on therapy for children and adolescents with focal and generalized epilepsies. Some epileptologists consider lamotrigine as the drug of primary choice in older school children and adolescents because of its good tolerability (no increase of body weight, no impairment of cognitive functions, due to new data probably no teratogenic properties). Lamotrigine can be used with good efficacy in numerable epilepsy diseases, such as tuberous sclerosis, juvenile neuronal lipofuscinosis and Rett syndrome. The first studies show that lamotrigine is also effective in children under 2 years of age. For therapy of difficult-to-treat epilepsies the combination of lamotrigine with valproate has proved as especially useful. This clinical observation is supported by new results of animal experiments. The dose-dependant and typical CNS side effects vertigo, ataxia, nausea, tremor and diplopia are found most frequently. The rate of allergic skin rashes which was very high before 1998 has decreased markedly by new dosage guidelines and is now as low as in older antiepileptic drugs. Lamotrigine does not impair cognitive functions, especially not memory and language. It has mood-stabilizing features and may improve quality of life. In animal experiments lamotrigine shows antiepileptogenic and neuroprotective effects.

Adolescent↗

PubMed1999

Hemodynamic and metabolic aspects of photosensitive epilepsy revealed by functional magnetic resonance imaging and magnetic resonance spectroscopy.

PURPOSE: To study in humans the hemodynamic and metabolic consequences of both photic stimulation-triggered and spontaneous generalized epileptiform discharges. METHODS: Simultaneous EEG, functional magnetic resonance imaging (fMRI) and MR spectroscopy were performed in a 1.5-T scanner in 16 patients with generalized epilepsy, including nine with photosensitive epilepsy, and 12 normal subjects. RESULTS: With a flash stimulation duration of 2 s, prominent visual cortex activation was seen in all normals and patients. There were no fMRI-registered hemodynamic abnormalities found in relation to the brief photoparoxysmal spike-wave activity evoked in the photosensitive patients. However, irrespective of the presence of a spike-wave response to the photic stimulation, the photosensitive patients showed four unique findings compared with normals: (a) slightly, but significantly, increased lactate levels in the occipital cortex in the resting state, (b) an increased area of visual cortical activation with photic stimulation, (c) simultaneous with the occipital cortex stimulus-induced increased fMRI signal there were noncontiguous areas of signal attenuation most prominent in perirolandic regions, and (d) a marked decrement (undershoot) of fMRI signal intensity immediately after the photic stimulation in the occipital cortex and in the region of the posterior cingulate gyrus. CONCLUSIONS: These findings suggest abnormal interictal metabolism and increased vascular reactivity in the photosensitive patients.

Adolescent↗

PubMed2000

Reduction of epileptiform activity in response to low-dose clonazepam in children with epilepsy: a randomized double-blind study.

PURPOSE: To evaluate the effect of low-dose clonazepam (CZP) on the amount of epileptiform activity in children with focal and generalized epilepsy. METHODS: In a single-blind pilot study, followed by a double-blind, placebo-controlled, randomized, crossover study, 15 children with epilepsy were evaluated by using 24-h long-term EEG recordings during baseline days and days after injections of placebo and CZP. The drug was given as a single i.m. injection of 0.02 mg/kg BW. Blood samples were obtained regularly for analysis of plasma concentrations of CZP. The number of epileptiform discharges was determined during corresponding periods with the individual child in the same state of alertness, the same real time of day, and with concomitant antiepileptic drugs (AEDs) unchanged. RESULTS: In the double-blind study, low-dose CZP produced a highly significant (p = 0.0015) decrease in the amount of epileptiform activity (mean, -69% vs. placebo, -2%) obtained during periods when median plasma concentrations ranged from 18 to <14 nM. The maximal plasma level (median, 24 nM) was reached before the start of the analysis periods. The pilot study showed reductions of epileptiform discharges within the same range as the double-blind study. In the children with daily seizures, a parallel decrease in seizures and the number of epileptiform discharges was seen after the administration of CZP. CONCLUSIONS: Our data demonstrate a significant reduction of epileptiform discharges on long-term EEGs after a single low dose of CZP with concomitant low plasma levels, which were considerably lower than the doses and plasma levels usually recommended. A concomitant reduction of seizures also was seen.

Anticonvulsants↗