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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epilepsy in adult patients with hypothalamic hamartoma has not been well studied. It is uncommon but merits recognition. In this paper, 14 adult patients with hypothalamic hamartoma and epilepsy, of whom three developed epilepsy only in adult life, are presented. The later onset of epilepsy appears to be associated with a milder epilepsy syndrome, less severe learning difficulties and behaviour problems, and better occupational and social status. Gelastic seizures are less prominent in this age group. Of particular interest, one patient had prominent sleep disturbances characterized by a reduction in total slow wave and REM sleep without daytime sleepiness. The milder epilepsy and preserved cognitive and social functioning have implications for management. A number of patients were controlled by anticonvulsant medication, and were functioning satisfactorily. For such patients minimally invasive surgical procedures, or medical therapy should be considered.
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PMID:Hypothalamic hamartoma in adults. 1497 88

Traditionally, control of seizures in patients with epilepsy is viewed as the most important clinical outcome. Yet, current antiepileptic drugs (AEDs) do not always achieve this. Around 30-40% of patients remain uncontrolled despite pharmacological intervention. Poor tolerability of AEDs is a large part of the problem and contributes as much to the overall effectiveness of therapy as efficacy. Comorbid conditions are present in many patients, and appropriate management of these can further improve seizure control and quality of life. Patients with epilepsy often experience--among other disorders--neuropsychological effects, migraines, and psychological problems (especially anxiety and depression). Sleep disturbances are also common and have been shown to contribute to the intractability of seizures in some patients. Many anticonvulsant treatments have the potential to improve--or in some cases worsen--these concurrent conditions, and these properties should therefore be considered in the total care of the patient. Finally, the costs of uncontrolled epilepsy are measured not only in terms of direct healthcare-related costs, but also in terms of lost productivity and opportunity. The indirect costs of epilepsy are substantial and account for 70-85% of total disease-related costs. Patients with uncontrolled seizures contribute disproportionately to healthcare costs, reinforcing the need for the development of newer AEDs with improved profiles of efficacy and tolerability, but with minimal adverse effects on behavior, cognition, and sleep.
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PMID:Comprehensive care of the epilepsy patient--control, comorbidity, and cost. 1531 10

The relationship of sleep and epilepsy demonstrates the delicate association of brain physiology and dysfunction. Sleep affects the distribution and frequency of epileptiform discharges in humans and influences the rate of kindling in animals. Epileptic discharges, on the other hand, alter sleep regulation and provoke sleep disruption. This effect on sleep appears to carry over to sleep complaints in patients with epilepsy. Individuals with epilepsy frequently complain of symptoms suggestive of disturbed sleep, such as excessive daytime sleepiness, insomnia, or with more subtle complaints such as an increase in seizure frequency. More commonly, these symptoms indicate an underlying sleep disorder rather than the effect of epilepsy or medication on sleep. Clinicians must be able to identify and differentiate between potential sleep disorders and sleep dysfunction related to epilepsy and direct therapy to improve the patient's symptoms. The reciprocal relationship of sleep and epilepsy and the management of sleep complaints in the patient with epilepsy will be reviewed.
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PMID:Sleep and epilepsy. 1544 23

Countless studies have demonstrated that patients with epilepsy have a significant increase in behavioral disturbances of all kinds, including hyperactivity and inattention. This finding has been demonstrated in studies utilizing observer questionnaires and behavior rating scales, neuropsychological test batteries, and standardized tests of attention such as continuous performance tests. Multiple factors must be considered in the evaluation of a child with epilepsy and hyperactivity or inattention. For instance, inattention could be due to subclinical seizures, undiagnosed learning disabilities, disturbed sleep as a result of a side effect of antiepileptic medication, or due to an attention deficit disorder. Electroencephalographic monitoring is helpful to distinguish between behavioral inattention and partial complex or absence seizures. Electroencephalographic monitoring can also assess subclinical spike frequency, which may affect attention and other aspects of cognitive functioning in various ways, even in the absence of clinical seizures. Most antiepileptic drugs do not adversely affect attention and behavior in therapeutic doses, with the exception of phenobarbital, gabapentin, and topiramate. Some antiepileptic drugs, such as lamotrigine and carbamazepine, may even have beneficial effects. The preponderance of evidence suggests that stimulants other than bupropion are safe and effective in the treatment of attention deficit disorder in children with epilepsy, although controlled studies of dextroamphetamine in this population are lacking. So far, atomoxetine has not been demonstrated to have any adverse effect in children with epilepsy.
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PMID:Attention deficit disorder and epilepsy. 1560 97

The importance of genetic factors in autism has prompted the development of mutant mouse models to advance our understanding of biological mechanisms underlying autistic behaviors. Mouse models of human neuropsychiatric diseases are designed to optimize (1) face validity, i.e., resemblance to the human symptoms; (2) construct validity, i.e., similarity to the underlying causes of the disease; and (3) predictive validity, i.e., expected responses to treatments that are effective in the human disease. There is a growing need for mouse behavioral tasks with all three types of validity for modeling the symptoms of autism. We are in the process of designing a set of tasks with face validity for the defining features of autism: deficits in appropriate reciprocal social interactions, deficits in verbal social communication, and high levels of ritualistic repetitive behaviors. Social approach is tested in an automated three-chambered apparatus that offers the subject a choice between a familiar environment, a novel environment, and a novel environment containing a stranger mouse. Preference for social novelty is tested in the same apparatus, with a choice between the start chamber, the chamber containing a familiar mouse, and the chamber containing a stranger mouse. Social communication is evaluated by measuring the ultrasonic distress vocalizations emitted by infant mouse pups and the parental response of retrieving the pup to the nest. Resistance to change in ritualistic repetitive behaviors is modeled by forcing a change in habit, including reversal of the spatial location of a reinforcer in a T-maze task and in the Morris water maze. Mouse behavioral tasks that may model additional features of autism are discussed, including tasks relevant to anxiety, seizures, sleep disturbances, and sensory hypersensitivity. Applications of these tests include (1) behavioral phenotyping of transgenic and knockout mice with mutations in genes relevant to autism, (2) characterization of mutant mice derived from random chemical mutagenesis, (3) DNA microarray analyses of genes in inbred strains of mice that differ in social interaction, social communication and resistance to change in habit, and (4) evaluation of proposed therapeutics for the treatment of autism.
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PMID:Designing mouse behavioral tasks relevant to autistic-like behaviors. 1566 35

The question whether general tetanus arises from the independent sum of multiple local tetani or results from the actions of the transynaptic tetanus neurotoxin (TeNT) in higher brain centres remains unresolved. Despite the blood-borne dissemination of TeNT from an infected wound, the access to the central nervous system is probably prevented by the blood-brain barrier. However, several long-term sequelae (e.g. autonomic dysfunction, seizures, myoclonus, and sleep disturbances) present after the subsidence of muscle spasms might be indicative of central actions that occur farther away from lower motoneurons. Subsequently, the obvious entry route is the peripheral neurons followed by the transynaptic passage to the brain. We aimed at describing the pathophysiological correlates of TeNT translocation using the oculomotor system as a comprehensive model of cell connectivity and neuronal firing properties. In this study, we report that injection of TeNT into the medial rectus muscle of one eye resulted in bilateral gaze palsy attributed to firing alterations found in the contralaterally projecting abducens internuclear neurons. Functional alterations in the abducens-to-oculomotor internuclear pathway resembled in part the classically described TeNT disinhibition. We confirmed the transynaptic targeted action of TeNT by analysing vesicle-associated membrane protein2 (VAMP2) immunoreactivity (the SNARE protein cleaved by TeNT). VAMP2 immunoreactivity decreased by 94.4% in the oculomotor nucleus (the first synaptic relay) and by 62.1% presynaptic to abducens neurons (the second synaptic relay). These results are the first demonstration of physiological changes in chains of connected neurons that are best explained by the transynaptic action of TeNT on premotor neurons as shown with VAMP2 immunoreactivity which serves as an indicator of TeNT activity.
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PMID:Transynaptic effects of tetanus neurotoxin in the oculomotor system. 1598 57

We have used a novel neurophysiological technique in the NeuroScope system in combination with conventional electroencephalography (EEG) to monitor both brainstem and cortical activity simultaneously in real-time in a girl with Rett syndrome. The presenting clinical features in our patient were severe sleep disturbances, irregular breathing in the awake state dominated by Valsalva's type of breathing followed by tachypnoea and very frequent attacks of seizures and vacant spells. Our novel neurophysiological data showed that the patient was a Forceful Breather according to the breathing categories in Rett syndrome. She had frequent abnormal spontaneous brainstem activation (ASBA) preceded by severe attacks of hypocapnoea, which was caused by a combination of Valsalva's type of breathing and tachypnoea and all these together were responsible for the seizures and non-epileptic vacant spells. The ASBA was not detectable in conventional EEG and there were no epileptiform changes in the EEG during the seizures and vacant spells caused by the hypocapnic attacks, therefore these were pseudo-seizures. The record of brainstem activity confirmed that these were autonomic events, a kind of "brainstem epilepsy". We successfully treated the sleep disturbance with Pipamperone, a 5-hydroxytryptophan antagonist of receptor type 2 and we prevented the severe hypocapnoea during Valsalva's type of breathing and during tachypnoea using carbogen (a mixture of 5% carbon dioxide and 95% oxygen), which we gave by inhalation. Our treatment drastically reduced the autonomic events, promoted whole night sleep and significantly improved the quality of life in our patient. She can now participate in normal family activity which was previously impossible before treatment.
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PMID:Management of a severe forceful breather with Rett syndrome using carbogen. 1676 5

We report a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q24.3-q31.1. The patient shows postnatal growth retardation, microcephaly, ptosis, down-slanting palpebral fissures, long eyelashes and micrognathia. Halluces are long, broad and medially deviated, while the other toes are laterally deviated and remarkably short with hypoplastic phalanges. She also showed developmental delay, seizures, lack of eye contact, stereotypic and repetitive hand movements and sleep disturbances with breath holding. Prenatal and three independent postnatal karyotypes were normal. Array-CGH analysis allowed us to identify and characterize a "de novo" 2q interstitial deletion of about 10.4Mb, involving segment between cytogenetic bands 2q24.3 and 2q31.1. The deletion was confirmed by quantitative PCR. About 30 children with 2q interstitial deletion have been reported. The deletion described here is overlapping with 15 of these cases. We have attempted to compare the clinical features of our patient with 15 overlapping cases. The emerging phenotypes include low birth weight, postnatal growth retardation, mental retardation and developmental delay, microcephaly, and peculiar facial dysmorphisms. Peculiar long and broad halluces with an increased distance between the first and the second toe are ("sandal gap" sign) present in most of the described patients. The gene content analysis of the deleted region revealed the presence of some genes that may be indicated as good candidates in generating both neurological and dysmorphic phenotype in the patient. In particular, a cluster of SCNA genes is located within the deleted region and it is known that loss of function mutations in SCNA1 gene cause a severe form of epilepsy.
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PMID:2q24-q31 deletion: report of a case and review of the literature. 1708 12

Of the cases with nocturnal frontal lobe epilepsy (NFLE) approximately 30% are refractory to antiepileptic medication, with several patients suffering from the effects of both ongoing seizures and disrupted sleep. From a consecutive series of 522 patients operated on for drug-resistant focal epilepsy, 21 cases (4%), whose frontal lobe seizures occurred almost exclusively (>90%) during sleep, were selected. All patients underwent a comprehensive pre-surgical evaluation, which included history, interictal EEG, scalp video-EEG monitoring, high-resolution MRI and, when indicated, invasive recording by stereo-EEG (SEEG). There were 11 males and 10 females, whose mean age at seizure onset was 6.2 years, mean age at surgery was 24.7 years and seizure frequency ranged from <20/month to >300/month. Nine patients reported excessive daytime sleepiness (EDS). Prevalent ictal clinical signs were represented by asymmetric posturing (6 cases), hyperkinetic automatisms (10 cases), combined tonic posturing and hyperkinetic automatisms (4 cases) and mimetic automatisms (1 case). All patients reported some kind of subjective manifestations. Interictal and ictal EEG provided lateralizing or localizing information in most patients. MRI was unrevealing in 10 cases and it showed a focal anatomical abnormality in one frontal lobe in 11 cases. Eighteen patients underwent a SEEG evaluation to better define the epileptogenic zone (EZ). All patients received a microsurgical resection in one frontal lobe, tailored according to pre-surgical evaluations. Two patients were operated on twice owing to poor results after the first resection. Histology demonstrated a Taylor-type focal cortical dysplasia (FCD) in 16 patients and an architectural FCD in 4. In one case no histological change was found. After a post-operative follow-up of at least 12 months (mean 42.5 months) all the 16 patients with a Taylor's FCD were in Engel's Class Ia and the other 5 patients were in Engel's Classes II or III. After 6 months post-surgery EDS had disappeared in the 9 patients who presented this complaint pre-operatively. It is concluded that patients with drug-resistant, disabling sleep-related seizures of frontal lobe origin should be considered for resective surgery, which may provide excellent results both on seizures and on epilepsy-related sleep disturbances. An accurate pre-surgical evaluation, which often requires invasive EEG recording, is mandatory to define the EZ. Further investigation is needed to explain the possible causal relationships between FCD, particularly Taylor-type, and sleep-related seizures, as observed in this cohort of NFLE patients.
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PMID:Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. 1826 81

Elderly individuals represent the fastest-growing segment of the US population. Seizures are common among elderly persons, and the etiology, clinical presentation, and prognosis of seizure disorders can often differ between elderly patients and younger individuals. However, published information regarding the diagnosis and management of epilepsy in elderly patients is scarce. Because a number of conditions that are common in elderly patients may resemble epilepsy, diagnosis can be challenging. Cardiovascular conditions, migraines, drug effects, infections, metabolic disturbances, sleep disorders, and psychiatric disorders are all associated with signs and symptoms that may often mimic epilepsy. New paradigms must be put into practice to establish an accurate diagnosis in the elderly patient; besides an initial evaluation, the patient history and an electroencephalogram should be obtained. Proper diagnosis is essential for proper treatment in the elderly patient.
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PMID:Diagnosing epilepsy in the elderly. 1743 21


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