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PubMedDate not supplied

Nonconvulsive status epilepticus in adults: thirty-two consecutive patients from a general hospital population.

We studied all adult patients who between 1984 and 1989 were initially diagnosed at our hospital as having nonconvulsive status epilepticus. Thirty-two patients fulfilled the criteria, which included ictal EEG recordings. The annual incidence was 1.5 in 100,000 inhabitants. The median age at onset of status was 51 years. Ten patients had status as their first epileptic manifestation, but most patients had a previous history of epilepsy. Median duration of epilepsy at onset of status was 4 years. Fourteen patients had focal ictal seizure activity on EEG and thus met the criteria for complex partial status. Eighteen patients had generalized seizure activity on EEG, but only 6 of these had a history of absence epilepsy or juvenile myoclonic epilepsy. None had Lennox-Gastaut syndrome. The clinical features of status in the remaining 12 patients were in some respects similar to those of the patients with complex partial status. We hypothesize that the EEG seizure activity in these patients may have been generalized from an initial focus.

Adolescent↗

PubMed2005

Depression and anxiety disorders in pediatric epilepsy.

PURPOSE: This study examined affective disorders, anxiety disorders, and suicidality in children with epilepsy and their association with seizure-related, cognitive, linguistic, family history, social competence, and demographic variables. METHODS: A structured psychiatric interview, mood self-report scales, as well as cognitive and language testing were administered to 100 children with complex partial seizures (CPSs), 71 children with childhood absence epilepsy (CAE), and 93 normal children, aged 5 to 16 years. Parents provided behavioral information on each child through a structured psychiatric interview and behavior checklist. RESULTS: Significantly more patients had affective and anxiety disorder diagnoses (33%) as well as suicidal ideation (20%) than did the normal group, but none had made a suicide attempt. Anxiety disorder was the most frequent diagnosis among the patients with a diagnosis of affective or anxiety disorders, and combined affective/anxiety and disruptive disorder diagnoses, in those with suicidal ideation. Only 33% received some form of mental health service. Age, verbal IQ, school problems, and seizure type were related to the presence of a diagnosis of affective or anxiety disorder, and duration of illness, to suicidal ideation. CONCLUSIONS: These findings together with the high rate of unmet mental health underscore the importance of early detection and treatment of anxiety disorders and suicidal ideation children with CPSs and CAE.

Adolescent↗

PubMed2001

Treatment of benign epilepsy syndromes throughout life.

Classification of epilepsy has been refined to a degree that begins to allow identification of syndromes that are benign, if not in clinical pattern, at least with regard to ultimate outcome. Infants, children, adolescents, and even adults, on occasion, develop seizures that challenge judgment regarding selection of drugs and duration of treatment. Childhood absence epilepsy tends to follow a benign course, with abatement of need for treatment in many patients. However, in approximately 40% of patients with onset of this syndrome, there is evolution to juvenile myoclonic epilepsy (JME), a form of seizure disorder that requires life-long treatment. One syndrome that is clearly almost always benign is benign epilepsy with centrotemporal spikes (BECTS). This clinical problem is defined by complaints, observations of behavior, and by a specific electroencephalographic pattern. Some patients are not treated; many undergo brief administration of medication. Infantile convulsive seizures that may be partial or with myoclonus tend to be familial and require treatment for 1 or 2 years. Time is required to make a decision about treatment because observation over time is required to be sure patients are developing normally, a hallmark of these syndromes. Familial groupings of partial seizures in adolescents appear to follow a benign course, as do those in many elderly patients with seizures after cerebral infarction. Treatment decisions require clinical judgment and observations over time. Drug selection is governed more by experience of individual clinicians, because benign syndromes occur infrequently and prospective studies are seldom performed.

Adolescent↗

PubMed1991

Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients.

Juvenile myoclonic epilepsy (JME) is a distinct subform of idiopathic generalized epilepsy of adolescence. Linkage studies with Bf and serologic HLA markers in families of JME patients have shown a tight linkage on chromosome 6. We present a linkage analysis with HLA-DQ restriction fragment length polymorphisms on more extended families, paying particular attention to the epilepsy type of the affected family members. We studied 21 families of JME patients with a total of 143 family members and obtained a highest logarithm of the odds (lod) score of 3.9 (theta m = 0.01, theta f = 0.01) assuming a dominant mode of inheritance and 70% penetrance when family members with JME, absence epilepsy, or epilepsy with generalized tonic-clonic seizures (GTCS) were considered as affected. When we also classified clinically normal family members with generalized spike-wave discharges in the EEG as "affected," the maximum lod score was 4.1 (theta m = 0.01, theta f = 0.3) under a dominant mode of inheritance and 90% penetrance. These findings support the conclusion that a gene locus for a group of idiopathic generalized epilepsies (JME, epilepsy with absences, and epilepsy with GTCS) maps to chromosome 6p.

Chromosomes, Human, Pair 6↗

PubMed2004

Differential expression of high voltage-activated Ca2+ channel types in the rostral reticular thalamic nucleus of the absence epileptic WAG/Rij rat.

In the WAG/Rij rat, a model for human absence epilepsy, spike-wave discharges (SWD) and absence epileptic behavior develop after the age of 3 months. The rostral part of the reticular thalamic nucleus (rRTN) is involved in SWD. Ca(2+) channels play a central role in the initiation and maintenance of burst firing activity of thalamic cells. We hypothesize that a changed expression of alpha(1)-subunits of one or more high voltage-activated Ca(2+) channel types in the rRTN underlies the development of SWD. To test this hypothesis we compared 3- and 6-month-old WAG/Rij rats with nonepileptic, age-matched control rats. By immunocytochemistry, the expressions of alpha(1)1.3-, alpha(1)2.1-, alpha(1)2.2-, and alpha(1)2.3-subunits were shown in both strains, demonstrating the presence of Ca(v)1.3, Ca(v)2.1, Ca(v)2.2, and Ca(v)2.3 channels, respectively. Quantification of channel expression indicates that the development of SWD in WAG/Rij rats is concomitant with an increased expression of Ca(v)2.1 channels in the rRTN. These channels are mainly presynaptic, as revealed by double immunofluorescence involving the presynapse marker syntaxin. The mechanism by which this increase could be related to the occurrence of SWD has been discussed.

Animals↗

PubMed2006

The role of T-type calcium channels in epilepsy and pain.

T-type calcium channels open in response to small depolarizations of the plasma membrane. The entry of two positive charges with every calcium ion leads to a further depolarization of the membrane, the low threshold spike, and opening of channels that have a higher threshold. In this manner, T-channels play an important pacemaker role in gating the activity of Na+ and Ca2+ channels. T-channels are preferentially expressed in dendrites, suggesting they play important roles in synaptic integration. Pharmacological evidence indicates that they are expressed in the receptive fields of sensory neurons, suggesting they play a primary role in nociception. Molecular cloning of the three T-channel genes has allowed detailed studies on their channel properties, pharmacology, distribution in the brain, up-regulation in animal models of disease, and provided the tools to screen for novel drugs. Studies on transgenic animals have provided the proof-of-concept that T-channels are important drug targets for the treatment of absence epilepsy and neuropathic pain. Mutations in ion channel genes, or channelopathies, have been found in many diseases. Similarly, T-channel gene mutations have been found in patients with childhood absence epilepsy. Considering the important role T-channels play in the thalamus, it is likely that T-channel mutations also contribute to a wider range of disorders characterized by thalamocortical dysrhythmia.

Analgesics↗

PubMed2006

Giant subcortical high-frequency SEPs in idiopathic generalized epilepsy: a protective mechanism against seizures?

OBJECTIVE: Recently, we found that high-frequency somatosensory evoked potentials (HF-SEPs), which are modulated by arousal-related structures, were abnormally enhanced during N-REM sleep in two seizure-free IGE patients [Restuccia D, Rubino M, Valeriani M, Della Marca G. Increase of brainstem high-frequency SEP subcomponents during light sleep in seizure-free epileptic patients. Clin Neurophysiol 2005; 116: 1774-1778]. Here, we aimed at verifying whether similar HF-SEP abnormalities were significantly correlated to the clinical outcome in a larger population of untreated IGE patients. METHODS: Patients were classified as Juvenile Myoclonic epilepsy (JME; six patients) and Childhood or Juvenile Absence epilepsy (CAE and JAE, six patients). They were untreated because newly diagnosed, or because seizure-free. HF-SEPs from patients were compared with those obtained from 21 healthy volunteers. RESULTS: HF-SEPs were abnormally enhanced in all seizure-free CAE-JAE patients, whereas they were normal in all JME patients and in CAE-JAE patients with frequent seizures. Not only scalp distribution, but also dipolar source analysis suggested a subcortical origin for these enhanced subcomponents, possibly in the brainstem. CONCLUSIONS: The enhancement of HF-SEPs might reflect the hyperactivity of arousal-related brainstem structures; such an enhancement was found in all seizure-free CAE-JAE patients, while it was never observed in JME patients. SIGNIFICANCE: We speculate that the hyperactivity of arousal-related brainstem structures might account for the different clinical outcome among IGE subsyndromes.

Adolescent↗

PubMed2000

Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy.

Several interacting genetic factors are likely to be involved in the epileptogenesis of idiopathic generalized epilepsies (IGE). Neurotransmitter transporters play a central role in the fine tuning of neurotransmission by removal of released neurotransmitters from the synaptic cleft. The present association study tested the hypotheses that variation of the genes encoding neurotransmitter transporters confers susceptibility to IGE. The genotypes of 133 German IGE subjects and 223 ethnically matched controls were assessed for DNA polymorphisms of genes encoding the glutamate (EAAT2), the serotonin (SERT), and dopamine (DAT) transporters. To increase genetic homogeneity, a subgroup of 76 patients with idiopathic absence epilepsy (IAE) was analyzed separately. We found no evidence for an allelic association of either the silent G603A substitution polymorphism in exon 5 of the EAAT2 gene or the regulatory promoter polymorphism of the SERT gene with either IGE or IAE. The frequency of the nine-copy allele of the 40 base pair repeat polymorphism in the 3' un pop popd region of the DAT gene was significantly increased in the IGE patients (chi2 = 4.11, degrees of freedom (d.f.) = 1, P = 0.043) and, in particular, in the IAE patients (chi2 = 7.81, d.f. = 1, P = 0.005) compared with the controls. The present findings strengthen previous evidence that genetic variation of the DAT gene modulates neuronal network excitability and contributes to the epileptogenesis of IAE.

Alleles↗

PubMed2005

Evidence for a role of the parafascicular nucleus of the thalamus in the control of epileptic seizures by the superior colliculus.

PURPOSE: The aim of this study was to investigate whether the nucleus parafascicularis (Pf) of the thalamus could be a relay of the control of epileptic seizures by the superior colliculus (SC). The Pf is one of the main ascending projections of the SC, the disinhibition of which has been shown to suppress seizures in different animal models and has been proposed as the main relay of the nigral control of epilepsy. METHODS: Rats with genetic absence seizures (generalized absence epilepsy rat from Strasbourg or GAERS) were used in this study. The effect of bilateral microinjection of picrotoxin, a gamma-aminobutyric acid (GABA) antagonist, in the SC on the glutamate and GABA extracellular concentration within the Pf was first investigated by using microdialysis. In a second experiment, the effect of direct activation of Pf neurons on the occurrence of absence seizures was examined with microinjection of low doses of kainate, a glutamate agonist. RESULTS: Bilateral injection of picrotoxin (33 pmol/side) in the SC suppressed spike-and-wave discharges for 20 min. This treatment resulted in an increase of glutamate but not GABA levels in the Pf during the same time course. Bilateral injection of kainate (35 pmol/side) into the Pf significantly suppressed spike-and-wave discharges for 20 min, whereas such injections were without effects when at least one site was located outside the Pf. CONCLUSIONS: These data suggest that glutamatergic projections to the Pf could be involved in the control of seizures by the SC. Disinhibition of these neurons could lead to seizure suppression and may be involved in the nigral control of epilepsy.

Animals↗

PubMed2003

Clinical trials for treatment of primary generalized epilepsies.

PURPOSE: To review the current state of knowledge of the treatment of primary (idiopathic) generalized epilepsy syndromes based on the efficacy results of clinical trials, to highlight obstacles in the design of these trials, and to suggest solutions for future research. METHODS: Published reports of controlled clinical trials, as well as large or significant uncontrolled trials of treatments for these syndromes, were reviewed. Trials were selected for discussion based on their importance or their illustration of design issues. RESULTS: Only a few randomized, controlled trials of therapy for these syndromes exist. Conclusions based on this Class I data include efficacy in absence epilepsies for ethosuximide, valproate, and lamotrigine, and for eight drugs for primary generalized tonic-clonic seizures. Many commonly accepted therapeutic strategies are not based on formal data. No controlled data exist for uncommon syndromes. CONCLUSIONS: More clinical trials of therapies for primary generalized epilepsies are needed. To overcome design obstacles, better funding, multicenter cooperation, inclusion of children, study designs requiring fewer patients, equivalent-control designs, use of EEG and video seizure counting, and better syndrome identification will be required.

Anticonvulsants↗

PubMedDate not supplied

[Depression-like changes in behavior and c-fos gene expression in dopaminergic brain structures in WAG/Rij rats].

In WAG/Rij rats with genetic absence epilepsy, inborn changes in behavior were observed such as decreased level of locomotion, exploratory activity, and grooming reactions in the open-field test, increased immobility in the forced-swimming test, and decreased sucrose consumption (anhedonia) as compared to Wistar rats completely lacking in seizure pathology. These behavioral alterations in WAG/Rij rats resemble the symptoms of human depression (psychomotor retardation, depressed mood, and anhedonia). No significant behavioral changes were found in the light-dark choice, social interaction, and elevated plus-maze tests. This suggests the absence of increased anxiety in WAG/Rij rats. In contrast to Wistar, WAG/Rij rats were sensitive only to chronic treatment with antidepressant imipramine like depressive patients. Behavioral "despair" induced by forced swimming led to C-fos gene expression in three brain structures (frontal cortex, nucleus accumbens, and striatum), which are, respectively, terminal regions of three dopaminergic brain systems (mesocortical, mesolimbc, and nigrostriatal). c-fos gene expression in the brain of WAG/Rij rats was substantially different from that in the brain of Wistar rats in both intensity (in WAG/Rij the c-fos gene expression was higher than in Wistar rats in all involved brain structures) and its distribution between the structures. The results suggest that WAG/Rij strain is a new experimental (genetic) model of absence epilepsy-related depression unassociated with increased anxiety.

Animals↗

PubMed1986

A hypergraphic syndrome of automatic writing, affective disorder, and temporal lobe epilepsy in two patients.

Two patients are described who wrote complex textual material suddenly, automatically, and without volitional control. Each met DSM-III criteria for a major affective disorder, had clinical and electrophysiologic temporal lobe epilepsy, absence spells, episodic expressive aphasia, and a history of traumatic loss of consciousness. The episodes of automatic writing met the criteria for ictal events. These patients may have experienced an ictal analogue of interictal hypergraphia. The behavioral neurologic features of this syndrome are discussed in relation to its clinical presentation and known disorders of writing.

Adolescent↗

PubMed1995

Effects of levetiracetam, a novel antiepileptic drug, on convulsant activity in two genetic rat models of epilepsy.

The anticonvulsant effects of levetiracetam were assessed in two genetic rat models. In the audiogenic-seizure prone rat, levetiracetam, 5.4 to 96 mg/kg i.p. dose-dependently inhibited both wild running and tonic-clonic convulsions. In the GAERS model of petit mal epilepsy, levetiracetam markedly suppressed spontaneous spike-and-wave discharge (SWD) but left the underlying EEG trace normal. The effects were already marked at 5.4 mg/kg and did not increase significantly up to 170 mg/kg although more animals were completely protected. Levetiracetam produced no observable effects on behaviour apart from slight reversible sedation at 170 mg/kg. In contrast, piracetam, a structural analogue of levetiracetam, significantly and consistently suppressed SWD in GAERS rats only at the high dose of 1000 mg/kg with some slight effects at lower doses. The effect of piracetam appeared to be due to increased sleeping rather than to a direct antiepileptic effect. The results with levetiracetam argue for a clinical application in both petit mal, absence epilepsy and in treating generalised tonic-clonic and partial seizures.

Acoustic Stimulation↗

PubMed1995

Nucleus reticularis thalami and neocortical paroxysms in the rat.

The role of the nucleus reticularis thalami in spike-wave discharges in rats with genetic absence epilepsy has already been demonstrated. This study further investigated the role of the nucleus reticularis thalami in paroxysmal synchronizations in Sprague-Dawley rats; this strain shows no propensity to epileptic activity. Electroencephalographic patterns were followed in chronically implanted, unrestrained rats. After both electrolytic and chemical unilateral lesions, stereotaxically placed in the anterolateral sectors of this nucleus (verified post mortem), abnormal electroencephalographic rhythms (high-voltage polyspikes and spike-wave complexes) were recorded from the frontoparietal cortex, primarily in the contralateral hemisphere. Stereotyped discharges at 3 Hz developed progressively from multiple spikes within the alpha frequency range through the lengthening of the wave component. The excessive synchronized activity recorded from the intact hemisphere was of greater amplitude and occurred slightly earlier than from the lesioned hemisphere. These EEG patterns were associated with behavioural manifestations closely resembling those seen during absence seizures in humans. Bilateral lesions did not induce paroxysmal activity, both hemispheres being characterized by dominant delta/theta activity without signs of EEG-synchronized sleep. The seizures may thus have been due to disinhibition of the contralateral reticularis nucleus, recently shown to project to the reticularis nucleus of the other side in rats. This working hypothesis is supported by callosal cuts. The results indicate that the reticular neurons exert a control over neocortical paroxysmal activity even in animals which do not present genetic absence epilepsy.

Animals↗

PubMed2000

Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.

Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. However, genes, which confer liability to common IGE subtypes including juvenile myoclonic epilepsy (JME) and childhood absence epilepsy (CAE) have not been identified so far. Here, we tested the hypothesis that genetic variation in the human homolog of the <<< >>> (ARC) contributes to the etiology of common IGE disorders. The gene has recently been mapped to chromosome 8q24.3, a region which spans previously identified major IGE susceptibility loci. A systematic search for mutations was performed in 143 patients with a known family history of IGE. However, no evidence for functional variants was found in the ARC coding sequence. Nevertheless, we detected a novel common C489T single nucleotide polymorphism, which provides a useful marker in genetic linkage and association studies. By performing a population- and family-based study we however failed to show significant association between this novel single nucleotide polymorphism and IGE, a finding, which most likely rules out that genetic variation in or close to the ARC gene confers liability to common IGE subtypes.

Adult↗

PubMed1996

Lack of linkage between idiopathic generalized epilepsies and the gene encoding the neural cell adhesion molecule.

Hereditary factors play a major role in the etiology of idiopathic generalized epilepsies (IGEs). The frequent neuropathological occurrence of microdysgeneses in the brain of IGE patients implies that genes regulating neural migration and cell adhesion might be involved in epileptogenesis of age-related generalized seizures. Our present linkage study tested the hypothesis that DNA sequence variants associated with the gene encoding the neural cell adhesion molecule (NCAM) confer genetic susceptibility to IGE traits in 57 families ascertained through patients with either juvenile myoclonic epilepsy, juvenile or childhood absence epilepsy. Our consistently negative results provide evidence against a common major effect of NCAM gene variants to the expression of IGEs with age-related onset from childhood to adolescence.

Adult↗

PubMed1994

Diagnosis of childhood seizure disorders.

Convulsive epilepsies are generally unmistakable. Absence epilepsies, which are easily recognized by the provocation of an episode during hyperventilation and by the typical features of the EEG, can be overdiagnosed, especially in the child who daydreams in class and has scattered, asymptomatic, epileptogenic EEG changes. As in adults, complex partial seizures in children can be difficult to distinguish from certain behaviors. Several types of benign childhood epilepsies need to be distinguished from the more intractable and lesional childhood epilepsies. Two common examples, benign rolandic epilepsy and benign occipital epilepsy, can be recognized by their unique EEG changes and clinical features. Juvenile myoclonic epilepsy generally does not remit spontaneously but should be recognized because it appears to respond to valproate. Some recurrent nonepileptic events seen in children can be mistaken for seizures, including shuddering attacks, paroxysmal vertigo, breath-holding spells, cardiogenic syncope, night terrors, and movement disorders, such as paroxysmal kinesigenic choreoathetosis.

Adolescent↗

PubMed2006

EEG features in idiopathic generalized epilepsy: clues to diagnosis.

PURPOSE: To investigate the EEG profile and its contribution for diagnosis and management in a group of patients with a clinical diagnosis of idiopathic generalized epilepsy (IGE) who were referred to a tertiary hospital. METHODS: We retrospectively studied clinical and EEG features of 180 consecutive patients with IGE. Eighty patients were diagnosed with juvenile myoclonic epilepsy (JME), 35 had absence epilepsy (AE), 13 had generalized tonic-clonic seizures on awakening (GTCS-A), 28 had generalized tonic-clonic seizures only (TCS), and 24 had adult-onset idiopathic generalized epilepsy (AIGE). The EEGs were classified in typical (synchronous generalized spike or polyspikes-and-wave discharges with normal background), atypical (with clear focalities or asymmetries), and normal. RESULTS: The 493 EEG exams were analyzed. The first EEG was normal in 45% of the 180 patients, and only 33% had typical abnormalities. AE had a higher proportion of typical examinations and needed fewer sequential examinations to register a typical abnormality compared with the other groups. By contrast, the serial EEG profile of TCS and AIGE showed a higher proportion of normal and atypical EEG findings. CONCLUSIONS: These findings support previous recommendations that IGE patients should be treated with appropriate therapy based on clinical history. Waiting for a typical abnormal EEG pattern can generate an unacceptable delay in the correct diagnosis and treatment of these patients. In patients with long-term epilepsy, the diagnosis may be difficult. Furthermore, serial EEGs can help to elucidate the syndromic diagnosis, especially in patients with TCS and AIGE.

Adolescent↗