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PubMed1999

[Problems surrounding absence seizures].

The diagnosis, treatment, and prognosis of childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) were reviewed with reference to 94 patients with typical absence seizures (82 with CAE, 12 with JAE) and the literature. The patients were separated into two groups based on clinical features, age at onset of seizures, and EEG findings. There has been much discussion on the age that represents the borderline between CAE and JAE. My view is that JAE begins with puberty, i.e. at around 10 years old. The treatment of choice for CAE is valproic acid (VPA). If the seizures are not controlled with VPA, add-on therapy with ethosuximide is recommended. For patients who respond poorly to these drugs, clonazepam in often effective. Lamotrigine, which is not yet commercially available in Japan, is effective when combined with VPA. As for school performance, some patients showed excellent results. However, about half of them performed weakly. Patients followed beyond 20 years were free of absence seizures in both groups, but suffered from GTCS with occurred sporadically in CAE as well as in JAE. The social prognosis in CAE and JAE may not be as good as we believed it to be.

Adolescent↗
PubMed1986

Relation of photosensitivity to epileptic syndromes.

Photosensitivity is the most common mode of seizure precipitation. It is age-related, more frequent in females, and most often found in generalised epilepsies. Little is known about its relation to individual epileptic syndromes. This study on 1062 epileptic patients who had 4007 split screen video EEG investigations revealed that the relation to generalised epilepsy is even more close than generally believed. Versive seizures with visual hallucinations was the only focal seizure type related to photosensitivity. Of the syndromes of generalised epilepsy, only childhood absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with grand mal on awakening were related to photosensitivity. The closest correlation was with juvenile myoclonic epilepsy. This is confirmed by a relation to the poly-spike wave pattern, and by an increase of myoclonic seizures by intermittent light stimuli. No relation was found with early childhood syndromes of generalised epilepsy, or generalised tonic-clonic seizures in the evening, or, most remarkably, with juvenile absence epilepsy. In generalised epilepsies with onset around puberty, photosensitivity could thus act as a pathoplastic factor. The female preponderance in both childhood absences and photosensitivity could be due to the same unknown factor.

Adolescent↗
PubMed2001

Absence seizures aggravated by valproic acid.

PURPOSE: To report on pediatric patients with absence epilepsy who experienced absence seizure aggravation while receiving valproic acid (VPA). METHODS: The charts of all children from four pediatric epilepsy clinics receiving VPA for absence epilepsy were reviewed. Patients were evaluated and followed up between 1994 and 2000. RESULTS: Eight cases (six boys) of absence seizure aggravation were detected. Mean age at seizure onset was 5.8 years (range, 3-12 years). Six patients had simple absence seizures, one had myoclonic absences, and one had absences with automatisms. The electroencephalogram in all cases depicted generalized 3-Hz spike-and-wave activities. All eight patients experienced an increase in the frequency of absence seizures within days of VPA introduction. Dose increments resulted in further seizure aggravation. Serum levels of VPA were within therapeutic range in all patients. No case was attributed to VPA-induced encephalopathy. All patients improved on VPA discontinuation. In five children, VPA was reintroduced, resulting in further seizure aggravation. CONCLUSIONS: VPA can occasionally provoke absence seizure aggravation in patients with absence epilepsy.

Acute Disease↗
PubMed2002

Coincidence of rolandic and absence features: rare, but not impossible.

The purpose of the study was to evaluate the incidence of a possible combination of rolandic and absence signs in epileptic children, which remains a subject of controversy. The medical files and electroencephalographic (EEG) records of children with rolandic, childhood absence, and juvenile absence epilepsy were retrospectively analyzed. During the antiepilepsy treatment, 6 of 66 patients with rolandic epilepsy, most of them with initial carbamazepine therapy, had absences and generalized spike-wave discharges of a secondarily generalized type. Five cases of 34 children with childhood absence epilepsy and 3 of 11 patients with juvenile absence epilepsy were identified with an EEG focus of the rolandic type. We considered the likely relation of absence features in rolandic epilepsy to the treatment or to an atypical course. The presence of a rolandic focus in absence epilepsies, however, makes the coincidence of these entirely distinct phenomena, even if very rare, not excluded. Further studies are required to elucidate a probable genetic or functional link between partial and primarily generalized EEG discharges in the idiopathic childhood epilepsies.

Adolescent↗
PubMed1995

Pediatric epilepsy syndromes.

The development of an international classification for epilepsies and epileptic syndromes has led to substantial progress in the understanding and treatment of patients with epilepsy. Epilepsies and epileptic syndromes are partitioned first by seizure type and then by etiology. This manuscript describes recent advances in six major pediatric epilepsy syndromes. The first three discussed (benign childhood epilepsy with centrotemporal spikes, juvenile myoclonic epilepsy, and childhood absence epilepsy) are the three most common epilepsy syndromes, and each has been the focus of significant research. Patients with benign childhood epilepsy with centrotemporal spikes (benign rolandic epilepsy) may not require anticonvulsant therapy, and their seizures always remit by midadolescence. Juvenile myoclonic epilepsy was the first major epilepsy syndrome for which a gene locus was found. The underlying neuronal pathways and cellular mechanisms of the generalized absence seizures of childhood absence epilepsy are well delineated. The last three syndromes discussed (West syndrome, Lennox-Gastaut syndrome, and acquired epileptic aphasia) are devastating catastrophic epileptic syndromes. The focus of research in West syndrome (infantile spasms) has been to develop better therapeutic interventions (both medical and surgical) and an improved understanding of its pathogenesis. New effective medications are available for patients with Lennox-Gastaut syndrome (childhood epileptic encephalopathy), but one of them (felbamate) has been associated with previously unrecognized serious side effects. Lastly, acquired epileptic aphasia is an example of a poorly understood epilepsy syndrome. A multicenter group has been organized to reexamine this syndrome and produce a better understanding of its pathogenesis and treatment.

Child↗
PubMed2003

[The use of depakene and depakene-chrono in idiopathic generalized epilepsy].

During 5 years, 104 patients with different types of idiopathic generalized epilepsy were treated with depakine and depakine-chrono in monotherapy and polytherapy schedule. Thirty-three patients had childhood absence epilepsy, 34--juvenile absence epilepsy, 33--juvenile myoclonic epilepsy and 3--generalized convulsive seizures in wake up periods. Mean medication dose was 1200 mg daily. Significant improvement of the patient's state was revealed in 50% of the cases, being most efficient in patients with juvenile myoclonic epilepsy (60.6%) and in children absence epilepsy (57.5%). Indices of remission formation and quality changed in the same direction--complete remissions were more frequent in juvenile absence epilepsy. Depakine is concluded to be an effective medication for the treatment of idiopathic generalized epilepsy.

Adolescent↗
PubMed2001

Electrophysiological and pharmacological characteristics of two types of spike-wave discharges in WAG/Rij rats.

Rats of the WAG/Rij strain are commonly seen as a genetic model for generalised absence epilepsy in man. Interestingly, generalised absence epilepsy shows, in addition to the fully generalised spike-wave discharges, a second type of spike-wave discharge, which lasts for a shorter time, has a lower frequency, and a lower incidence. The originally described distinction between the two types of spike-wave discharges was mainly based on the shape, polarity and duration of the discharges. In the present study other characteristics such as the spatial and temporal distribution of the spike and wave components of the two discharges and frequency spectra were found to differ between the two types. In addition, a reciprocal regulation of the two types of spike-wave discharges by drugs affecting the dopaminergic system (haloperidol and apomorphine) was observed. The results convincingly demonstrate the difference between the two phenomena and warrant the search for neurobiological mechanisms underlying both types of spike-wave discharges.

Action Potentials↗
PubMed2001

Measures of psychopathology in children with complex partial seizures and primary generalized epilepsy with absence.

OBJECTIVE: This investigation examined psychopathology in 48 children with complex partial seizures (CPS), 39 children with primary generalized epilepsy with absence (PGE), and 59 nonepileptic children, aged 5 to 16 years, by comparing the Child Behavior Checklist (CBCL) and the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS). METHOD: The CBCL was completed by parents and the K-SADS was administered to both parent and child. RESULTS: The CBCL identified psychopathology in 26% and the K-SADS in 51% of the CPS and PGE patients (kappa = 0.32). The CPS and PGE groups had significantly higher mean CBCL scores, as well as higher rates of psychiatric diagnoses and symptoms of psychopathology, compared with the nonepileptic group. However, the CPS and PGE groups did not differ in these measures. Within each patient group, Full Scale IQ, but not seizure control, was associated with these measures of psychopathology. CONCLUSION: These findings suggest that the K-SADS identifies more children with psychopathology than the CBCL in children with CPS and PGE.

Adolescent↗
PubMed1992

Genetics of spike-wave discharges in the electroencephalogram (EEG) of the WAG/Rij inbred rat strain: a classical mendelian crossbreeding study.

The WAG inbred strain might be an animal model for human absence epilepsy. To study the inheritance pattern of absence epilepsy, WAG rats were crossbred, in a classical Mendelian way, with inbred ACI rats which show no signs of epilepsy. In the parental strains, reciprocal F1 hybrids, F2, B1, and B2 generations, the number and duration of spike-wave discharges were determined. One hundred percent of the F1 animals showed spike-wave discharges, while the percentages for the F2, B1, and B2 generations were 79, 95, and 37%, respectively. These results suggest that the occurrence of spike-wave discharges is determined by one gene with a dominant mode of inheritance. Cavalli's least-squares fitting procedure suggested different genetic models for the two parameters (number and duration) during the two periods (dark and light). These results confirm our previous findings (Peeters et al., Behav. Genet. 20, 453-460, 1990) that a number of genes are involved in absence epilepsy. One dominant gene appears to determine the occurrence, however, while others manipulate the number and duration of epileptic phenomena during the two periods dark and light.

Animals↗
PubMed2001

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

BACKGROUND: The genetic basis of most common forms of human paroxysmal disorders of the central nervous system, such as epilepsy, remains unidentified. Several animal models of absence epilepsy, commonly accompanied by ataxia, are caused by mutations in the brain P/Q-type voltage-gated calcium (Ca(2+)) channel. We aimed to determine whether the P/Q-type Ca(2+) channel is associated with both epilepsy and episodic ataxia type 2 in human beings. METHODS: We identified an 11-year-old boy with a complex phenotype comprising primary generalised epilepsy, episodic and progressive ataxia, and mild learning difficulties. We sequenced the entire coding region of the gene encoding the voltage-gated P/Q-type Ca(2+) channel (CACNA1A) on chromosome 19. We then introduced the newly identified heterozygous mutation into the full-length rabbit cDNA and did detailed electrophysiological expression studies of mutant and wild type Ca(2+) channels. FINDINGS: We identified a previously undescribed heterozygous point mutation (C5733T) in CACNA1A. This mutation introduces a premature stop codon (R1820stop) resulting in complete loss of the C terminal region of the pore-forming subunit of this Ca(2+) channel. Expression studies provided direct evidence that this mutation impairs Ca(2+) channel function. Mutant/wild-type co-expression studies indicated a dominant negative effect. INTERPRETATION: Human absence epilepsy can be associated with dysfunction of the brain P/Q-type voltage-gated Ca(2+) channel. The phenotype in this patient has striking parallels with the mouse absence epilepsy models.

Adult↗
PubMed2004

Corticosterone increases spike-wave discharges in a dose- and time-dependent manner in WAG/Rij rats.

Corticosteroids mediate seizure activity in different epilepsy models or epilepsies. However, for childhood absence epilepsy, a nonconvulsive type of epilepsy, direct evidence for corticosteroid seizure modulation is lacking. Thus, in the present study, we analysed the acute systemic effects of different doses of the corticosteroid corticosterone on seizure activity in a well-validated animal model of childhood absence epilepsy, the WAG/Rij rat. We found a time- and dose-dependent increase in the number of spike-wave discharges (SWD) in the EEG, with 500 microg/kg of corticosterone causing a 327% increase in discharges compared to baseline 15-30 min after administration. No treatment effects were found on mean duration of SWD and behavior. Our data indicate that corticosterone in a physiologically relevant dose can aggravate absence seizures in a rapid but transient way. Regarding the time course of the effect, we suggest that corticosterone is acting nongenomically, possibly via a temporary increase of excitatory amino acids.

Action Potentials↗
PubMed1984

Therapeutic response of absence seizures in patients of an epilepsy clinic for adolescents and adults.

Responses of seizures to therapy is one of the most important prognostic factors in epilepsy. Absences are among the seizure types with a good response to antiepileptic drug treatment and, usually, remission before adult age. Absence patients attending an epilepsy clinic for adults can be expected to represent a group with negative bias because they have not yet remitted. Furthermore, the majority have additional generalized tonic-clonic seizures, which is a recognized negative factor in prognosis. We studied 229 adolescents and adults who were under our care for at least 2 years, and divided them into three groups according to their becoming absence free for at least 1 year: (1) responders to simple therapy (one anti-absence drug in doses not exceeding 2 g/day); (2) responders to complex therapy (one anti-absence drug in higher dose or combination of anti-absence drugs); (3) non-responders. Groups 1 and 2 can be considered jointly as responders as opposed to the non-responder group. Similarly, groups 2 and 3 can be considered jointly as a group with poor as opposed to good therapeutic response. It was found that significant differences exist between good and poor responders, and 15 factors which had a negative effect on therapeutic response could be identified. No single factor or combination was responsible for non-response, but non-responders had the highest score of negative factors. Patients with complete absence control had a 93% chance of total seizure control, and, with constant medication, relapses after 1 year of control were very infrequent.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed2006

Neuromodulation with levetiracetam and vagus nerve stimulation in experimental animal models of epilepsy.

Epilepsy is a neurological disorder consisting of recurrent seizures, resulting from excessive, uncontrolled electrical activity in the brain. Epilepsy treatment is successful in the majority of the cases; however; still one third of the epilepsy patients are refractory to treatment. Besides the ongoing research on the efficacy of antiepileptic treatments in suppressing seizures (anti-seizure effect), we want to seek for therapies that can lead to plastic, neuromodulatory changes in the epileptic network. Neuropharmacological therapy with levetiracetam (LEV) and vagus nerve stimulation (VNS) are two novel treatments for refractory epilepsy. LEV acts rapidly on seizures in both animal models and humans. In addition, preclinical studies suggest that LEV may have antiepileptogenic and neuroprotective effects, with the potential to slow or arrest disease progression. VNS as well can have an immediate effect on seizures in epilepsy models and patients with, in addition, a cumulative effect after prolonged treatment. Studies in man are hampered by the heterogeneity of patient populations and the difficulty to study therapy-related effects in a systematic way. Therefore, investigation was performed utilizing two rodent models mimicking epilepsy in humans. Genetic absence epilepsy rats from Strasbourg (GAERS) have inborn absence epilepsy and Fast rats have a genetically determined sensitivity for electrical amygdala kindling, which is an excellent model of temporal lobe epilepsy. Our findings support the hypothesis that treatment with LEV and VNS can be considered as neuromodulatory: changes are induced in central nervous system function or organization as a result of influencing and initiating neurophysiological signals.

Animals↗
PubMed2003

Anti-epileptic drugs-induced de novo absence seizures.

The authors present three patients with de novo absence epilepsy after administration of carbamazepine and vigabatrin. Despite the underlying diseases, the prognosis for drug-induced de novo absence seizure is good because it subsides rapidly after discontinuing the use of the offending drugs. The gamma-aminobutyric acid-transmitted thalamocortical circuitry accounts for a major part of the underlying neurophysiology of the absence epilepsy. Because drug-induced de novo absence seizure is rare, pro-absence drugs can only be considered a promoting factor. The underlying epileptogenecity of the patients or the synergistic effects of the accompanying drugs is required to trigger the de novo absence seizure. The possibility of drug-induced aggravation should be considered whenever an unexpected increase in seizure frequency and/or new seizure types appear following a change in drug treatment. By understanding the underlying mechanism of absence epilepsy, we can avoid the inappropriate use of anticonvulsants in children with epilepsy and prevent drug-induced absence seizures.

Anticonvulsants↗
PubMed1994

[Generalized idiopathic epilepsy in older children and adolescents].

Generalized idiopathic epilepsies starting between 12 and 18 years of age are mostly represented by juvenile myoclonic epilepsy, juvenile absence epilepsy and grand-mal on awakening. The EEG and clinical description of the seizures, the different epileptic syndromes with their therapeutics, the prognosis and the familial forms with the molecular genetic aspects are studied. The importance of the history for the positive diagnosis is emphasized, in order to display the often overlooked myoclonies occurring in the morning. Differential diagnosis concerns mostly absences which are sometimes difficult to separate from frontal seizures, and in the case of first generalized tonico-clonic seizure, partial epilepsy which needs further investigations, and the exceptional progressive myoclonic epilepsy which begins the same way, but has a totally different prognosis. Psycho-social difficulties due to epilepsy and lack of therapeutic compliance are frequent. The therapeutic results are generally good but there is a high rate of relapse after medication withdrawal.

Adolescent↗
PubMedDate not supplied

Genetics of myoclonic and myoclonus epilepsies.

Mendelian forms of benign myoclonic epilepsies where a chromosomal locus has been defined include (1) the autosomal dominant (AD) juvenile myoclonic epilepsy (JME) in chr. 6p11, (2) the autosomal dominant childhood absence epilepsy which evolves to JME in chr. 1p, (3) familial adult myoclonic epilepsy of Yasuda and Inazuki, and (4) possibly JME within the idiopathic generalized epilepsy susceptibility gene in chr. 8 reported by Zara et al (1995). Other myoclonic epilepsy syndromes with onset in the first year of life (Aicardi's Neonatal (Early) Myoclonic Encephalopathy, West's Syndrome, Dravet's Severe Myoclonic Epilepsy, and Dravet's Benign Myoclonic Epilepsy of Infancy), in early childhood (Lennox-Gastaut-Dravet Syndrome, Myoclonic Variant of Lennox Gastaut Dravet Syndrome, Myoclonic-Astatic Epilepsy of Doose, Benign Myoclonic Epilepsies (BME), or even in late childhood (Childhood Absence Epilepsy with myoclonias, vs. Myoclonic Absence Epilepsy) are probably genetically complex diseases. Amongst the progressive myoclonus epilepsy syndromes, specific mutations have already been defined in Unverricht Lundborg disease, ceroid lipofuscinoses 3 or Spielmayer Voight syndrome within Battens disease, sialidosis, dentadorubropallidoluysian atrophy and the mitochondrial syndrome MERRF. Most recently our laboratories established the locus for Lafora's disease in chr. 6q and results are speedily moving towards the definition of its mutation.

Chromosome Mapping↗
PubMed1988

Epileptic syndromes in childhood.

Epileptic syndromes are clusters of signs and symptoms regularly occurring together. These may include type of seizure(s), time and circumstances of occurrence, and neurological and EEG findings. Some syndromes have common signs and a predictable course (e.g., benign rolandic epilepsy). Others, such as absence seizures, are less specific and may include several subgroups with different outcomes and different associated features. Still others are rather loose collections of a few common characteristics irregularly linked together. Widely accepted syndromes in childhood include the West syndrome and Lennox-Gastaut syndromes, several myoclonic syndromes, febrile seizures of infancy, absence epilepsy, benign partial epilepsy, and juvenile myoclonic epilepsy. If the concept of epileptic syndromes is to be practically useful, it should be limited to clusters that are unequivocally identifiable. Heterogeneous epileptic syndromes such as West syndrome or absence epilepsies give only a limited guide to prognosis but may be important in determining investigations and treatment. A classification based on syndromes has the advantage of dispensing with most assumptions required by other systems. However, it cannot cover all the clinical aspects of epilepsy and gives no guide to the pathophysiology, genetics, and etiology of a seizure disorder. The ultimate goal remains the delineation of disease entities.

Child↗
PubMed1997

Fixation-off-sensitive epilepsy with absences and absence status: video-EEG documentation.

A 33-year-old woman of borderline normal intelligence had catamenial absence status epilepticus and absences since early teens, diagnosed as temporal lobe epilepsy. Clinical and video-EEG evaluation documented that she suffers from a rare epileptic condition manifested with fixation-off sensitivity, absences, absence status, and infrequent generalized tonic-clonic seizures.

Adult↗