Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile myoclonic epilepsy (JME) is one of the idiopathic generalized epilepsies with age-related onset. Myoclonic seizures of JME often occur on awakening. On the other hand, patients with reflex epilepsy, whose seizures are particularly induced by activating higher cognitive functions, are thought to belong to the same category. As to the seizure precipitating factors of these patients with JME, however, few studies have ever been made. In this study, clinical and electroencephalographic findings of 25 patients with JME, on whom "neuropsychological EEG activation" (NPA) was performed, were carefully analyzed. After a routine EEG examination, NPA was carried out; this is a special method for EEG activation that requires the patients to speak, read, write, calculate and perform constructive acts (drawing figures and doing a block design test); in addition to EEG recording, simultaneous video-EEG monitoring was also made during these tasks. In the patients with JME, the sex ratio was about equal (11 males and 14 females). Eight patients (32%) had a family history of epilepsy but none of the patients had a positive past history responsible for epilepsy. The age at the onset of myoclonic seizures ranged between 10 and 20 years (mean: 15.3 years). A total of 18 patients (72%) had another type of seizures; 3 had absence seizures, 9 had generalized tonic-clonic seizures and 6 had both absence and generalized tonic-clonic seizures. Myoclonic seizures often occurred in the morning on awakening in 17 (68%) of 25 patients. As for EEG findings (all but one patient were receiving antiepileptic drugs when EEG was examined), paroxysmal discharges in a resting state were found in 12 patients (48%); most of them were either very brief generalized spike and wave complexes or bursts of generalized 3-5 Hz spike and wave complexes lasting for 1-3 seconds; generalized multiple spikes were observed only in 5 patients. These clinical and EEG findings were in accordance with those reported previously. Careful investigation of the histories obtained from the patients disclosed the following: Myoclonic seizures were induced (1) by mental activity associated with the use of hands in 20 patients (80%), (2) in a situation with psychic tension in 12 (48%), and (3) by decision making in 3 (12%). Interestingly, these findings could be confirmed by NPA with simultaneous video-EEG monitoring.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:[A clinical and electroencephalographic study of juvenile myoclonic epilepsy: its pathophysiological considerations based on the findings obtained from neuropsychological EEG activation]. 251 Feb 9

The electroencephalograms (EEGs) of 22 patients suffering from hereditary DRPLA were studied. Epileptoform patterns were observed in 14 patients (63.6%) with epileptic seizures. The epileptoform patterns most frequently observed were those atypical spike-wave complexes. Slow wave bursts were seen in 18 patients (81.8%). Photosensitivity was revealed in six (27.3%) patients, all of whom presented progressive myoclonus epilepsy (PME) syndrome. Abnormal background activity was evident in 17 (77.3%) patients. These abnormalities in EEG were more severe in patients in the PME type than those of the A (ataxia) and AE (ataxia and epilepsy) types.
 ...
PMID:Electroencephalographic findings of hereditary dentatorubral-pallidoluysian atrophy (DRPLA). 252 87

Serum cortisol, prolactin (PRL), TSH, GH, LH and FSH levels were measured before and immediately after daily ACTH-Z therapy (0.01 mg/kg/day, 1-2 weeks) for 5 patients with infantile spasms and one patient with myoclonus epilepsy. Total number of ACTH-Z therapy were 8 times, and all patients became seizure free after ACTH-Z therapy. In 6 occasions, TRH, LH-RH and insulin tolerance tests were performed before and after daily ACTH-Z therapy. Serum cortisol levels were significantly increased after daily ACTH-Z therapy but all other hormone levels were significantly decreased. In TRH and LH-RH tolerance tests, peak levels and increments of PRL, LH and FSH were significantly decreased after daily ACTH-Z therapy and those of TSH were mildly decreased. In one case insulin tolerance test revealed an adequate decrease of blood glucose before and after ACTH-Z therapy, and there was a poor GH response after ACTH-Z therapy. Daily ACTH-Z therapy was thought to suppress secretion of anterior pituitary hormones.
 ...
PMID:[Changes in anterior pituitary function during ACTH therapy of patients with infantile spasms]. 280 96

Myoclonic epilepsy of Janz is an essentially benign disorder with excellent response to valproic acid. The onset of myoclonic seizures in a patient at the age of 47 years, with normal mental status and a normal neurological examination, is reported. The electroencephalogram showed typical 3- to 5-Hz polyspike and wave complexes, some associated with myoclonic jerks but without loss of consciousness. The patient responded well to divalproex sodium, which controlled her seizures. A discussion of the condition and a review of the literature are included.
 ...
PMID:Late onset of myoclonic epilepsy of Janz. 308 62

We report 2 brothers with progressive ataxia, seizures, myoclonus, supranuclear ophthalmoplegia, progressive visual loss and embolic strokes. The epilepsy and myoclonus came on many years after the onset of the ataxia. In the more severely affected brother the myoclonus was often unilateral and focal but ultimately involved both sides of the body. His sibling had only unilateral myoclonus after a contralateral middle cerebral artery stroke. When focal, persistent and unilateral, the myoclonus in both brothers was clinically similar to epilepsia partialis continua except that muscles of the trunk and proximal limbs were the most affected. It was exacerbated by movement of the affected part but was otherwise not stimulus sensitive. The more severely affected brother had a pigmentary retinopathy and a cardiac fibromyxoid valvulopathy. In his sibling, visual loss was not fully investigated and the heart was not examined at autopsy though he had a longstanding heart murmur. Neuropathological studies showed pancerebellar cortical atrophy, cell loss in the inferior olivary nuclei and old right middle cerebral artery infarctions in both brothers. Biochemical assays for known metabolic diseases were negative. We suggest that this syndrome represents a unique autosomal recessive form of progressive myoclonus epilepsy of unclear aetiology. It is distinguished from other familial myoclonus epilepsies by the presence of early onset cerebellar ataxia, supranuclear ophthalmoplegia, pigmentary retinopathy and possibly cardiac valvulopathy with subsequent cerebral emboli.
 ...
PMID:Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. 308 70

Animal models of epilepsy are essential for the search of new effective antiepileptic drugs. Moreover they may lead to the discovery of the basic neuronal dysfunction(s) which underlies human epilepsies. Animal epilepsies as well as experimental seizures are usually considered as valid models of human epilepsies when, and only when, the drugs which are effective in human epilepsies prevent seizures in animals. This, however, precludes finding new drugs for resistant epilepsies. Animal models of epilepsy can be classified as follows: (i) experimental seizures induced by convulsant drugs or by an electrical stimulation; (ii) reflex epilepsies; (iii) idiopathic epilepsies. Examples of animal models of epilepsy taken from each of these three classes are briefly reviewed. Seizures induced by convulsant drugs or by an electroshock are widely used as simple and rapid screening systems for new anticonvulsant compounds. Moreover, the use of chemical convulsants can lead to new hypotheses concerning the mechanisms underlying human epilepsies. Thus, one of the main arguments in favor of the GABAergic hypothesis of epilepsy is that GABA antagonists induce seizures which are readily counteracted by most antiepileptic drugs. Among the other models of experimentally induced seizures, the kindling model is usually considered, on the basis of its pharmacological characteristics, as a Grand Mal type epilepsy model. Thirty years after this model was first described, the exact modifications induced in the brain by the kindling procedure remain unknown. Various animal species exhibit reflex epilepsies. Myoclonic seizures can be induced by photic stimulation in Papio-papio baboons; tonic-clonic seizures can be induced by various auditory stimuli in certain strains of mice and rats; myoclonic and tonic-clonic seizures can be induced by a variety of environmental stimuli in the mongolian gerbil; photosensitive and febrile seizures have been described in fowl. Most antiepileptic drugs are effective in these reflex epilepsies. Alterations in several neurotransmitter systems have been reported in susceptible strains as compared to resistant strains, such as modifications in noradrenergic, serotoninergic, GABAergic or glutamatergic transmissions, but no single abnormal parameter can unequivocally be correlated to seizure susceptibility. Idiopathic epilepsy is not uncommon in dogs and the prevalence of the disease appears to be comparable to that observed in man. Grand Mal type epilepsy appears to be the most frequent type of epilepsy in dogs; little work has been devoted to the study of the neurochemical alterations which may underly the disease.
 ...
PMID:[Animal models of epilepsy and experimental seizures]. 311 33

Progressive myoclonus epilepsy (PME) without Lafora bodies, or Baltic myoclonus epilepsy, is characterized by stimulus-sensitive myoclonus, generalized tonic-clonic seizures, and an irregularly progressive course beginning between 6 and 15 years of age. The EEG displays spike-and-wave paroxysms with irregular dominant activity. Baltic myoclonus epilepsy is a single-gene disorder inherited in an autosomal recessive pattern. Early cases were reported from Estonia, and many are now found in Finland, suggesting that the gene frequency is increased in those sharing the Finno-Ugric linguistic base. The use of phenytoin should be avoided in this disorder since its continued administration alone or with other antiepileptic drugs is associated with intellectual and motor deterioration, aggressive behavior, increasing ataxia, and even death. Treatment with valproate and the concomitant elimination of phenytoin have been associated with marked improvement in most cases. Baltic myoclonus epilepsy must be distinguished from Lafora body PME, which is relentlessly progressive and invariably fatal, but can usually be differentiated on clinical grounds.
 ...
PMID:Effect of phenytoin on the mental and physical function of patients with Baltic myoclonus epilepsy. 311 15

Two patients with progressive myoclonus epilepsy of the Unverricht-Lundborg type and with intractable seizures in spite of standard anticonvulsant regimens were treated with zonisamide. After zonisamide therapy was initiated, both had a marked decrease in seizure frequency and significant improvement of functioning. Serum zonisamide concentrations were 43 and 27 micrograms/ml, respectively, with doses of 8.8 and 10.5 mg/kg/d. Both patients also continue to receive valproic acid and a benzodiazepine.
 ...
PMID:Progressive myoclonus epilepsy treated with zonisamide. 313 May 86

Two patients with mitochondrial encephalomyopathy (MEP) serve to emphasize the variability of this group of diseases. Cerebral insults, mitochondrial cardiopathy, relapsing ileus, cerebral angioma, ataxia, and myoclonic seizures characterized the first case of an adult man with similar diseases in his family, interpreted as transitional form between mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy associated with ragged red fibers (MERRF). The second patient, a floppy infant with cardiomyopathy and myoclonism, statomotoric and mental retardation showed combined defects in mitochondrial respiratory chain at NADH-CoQ reductase and cytochrome c oxidase and a deficiency of carnitine. In both patients neuropathologically criteria of Leigh's syndrome could be demonstrated in the cerebral cortex, in case 2 also clinically. The classificatory problems of the relationships between KSS, MELAS, MERRF, Leigh's as well as Alpers' syndromes are discussed.
 ...
PMID:Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type. 322 73

A strain of Wistar rats was inbred for susceptibility to audiogenic seizures characterized by one or two wild running fits followed by tonic dorsiflexion with open mouth and then a catatonic state. During the tonic phase, the cortical EEG was flat for 1 to 2 sec, then changed to a slow, regular low-amplitude discharge, 9 to 12 c/s, for 25 to 60 sec. In these rats exposed to 40 daily 90-sec auditory stimuli, behavior and EEG changed. The wild running became disorganized by myoclonic jerks of the limbs and body. In some animals, the tonic extension disappeared and a myoclonic seizure developed progressively, with facial and forelimb clonus, and rearing and falling. In others, the tonic phase was followed by a generalized clonic phase. The EEG during the myoclonic and tonic-clonic seizures showed high-amplitude rhythmic spikes, polyspikes and spike-waves, 1 to 10 c/s, for 40 to 120 sec, often outlasting the sound stimulus. The effects of ethosuximide, carbamazepine and phenytoin were the same on primary and modified audiogenic seizures. The progressive behavioral and EEG modifications of audiogenic seizures following repeated auditory stimuli suggest that kindling had developed, the seizures being propagated from the brain stem to forebrain structures.
 ...
PMID:Audiogenic seizures in Wistar rats before and after repeated auditory stimuli: clinical, pharmacological, and electroencephalographic studies. 341 35


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>