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

1) CZP had marked effects on RD. RD disappeared in 8 (73%) of 11 patients treated with CZP alone and 6 (43%) of 14 treated with CZP in combination with other drugs. Even when RD persisted, its amplitude and frequency decreased in some patients. 2) In the group treated with CZP in combination with other drugs, RD disappeared in all 5 patients with the persistent RD, of whom 2 had arachnoid cyst. Of the 6 patients with frequent seizures, 2 were subsequently diagnosed as having CPS and SPS, respectively. Patients who did not respond to CPZ included those in whom the diagnosis of BECCT should be reconfirmed, and electro-clinical response may be also useful for diagnosing RD. 3) In patients treated with CZP alone for a short-term treatment of BECCT, the drug administration could be discontinued only in one. A longer follow-up study is necessary to reach a conclusion in future.
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PMID:The effects of clonazepam on rolandic discharge of benign epilepsy of children with centro-temporal EEG foci. 176 50

Patients with CPS often display recent memory deficits. Typically, general intelligence, perceptual skills, language, remote memory, and primary memory are all normal. However, the ability to learn new combinations of cognitively complex material is deficient. This deficit may be specific for verbal material (e.g., as a difficulty with learning to recall a response word given an unrelated cue word), for nonverbal material (e.g., as a difficulty in drawing a complex figure from memory), or for both verbal and nonverbal material. Because these characteristics are typical of memory deficits after MTL damage, it is reasonable to suspect that these deficits in patients with epilepsy also reflect MTL damage. In many cases, MTL damage is apparent from neuroimaging studies, whereas seizure semiology suggests MTL onset. In these patients, the same pathology might be the cause of both the ictus and memory deficits. In other cases, memory impairment appears to be secondary to seizures. This suggestion is supported by cases where prolonged complex partial status resulted in a permanent global amnesia. Cases with shorter-lasting memory deficits were also presented. Neuropsychological testing revealed specific recent-memory deficits that cleared 2 weeks after a flurry of CPS and 24 hr after a single seizure. Depth recordings have demonstrated that MTL electrographic seizures can occur without subjective manifestations. When these are evoked by local electrical stimulation, a profound inability to learn new material may be observed during the afterdischarge. Similarly, artificially induced MTL spike-and-wave complexes interfere with the memory for simultaneously presented complex visual scenes. Recent evidence suggests that all of the above phenomena may reflect the engagement by epileptiform processes of the association-cortex (AC)-MTL circuits used in normal human memory. In recent memory tasks, cognitive evoked-potential components N4 and P3 are generated in the MTL and to a lesser degree in related AC regions. The N4/P3 are strongly modulated by familiarity in recent memory. This modulation is eliminated by anterior temporal lobectomy. The typical slow wave following spontaneous MTL interictal spikes has the same MTL voltage topography, and thus probably similar synaptic generators, as the cognitive P3 potential. Furthermore, MTL spike-and-wave complexes can be evoked in recent memory tasks at a fixed latency equal to that of the N4.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Memory dysfunction in epilepsy patients as a derangement of normal physiology. 200 17

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.
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PMID:Intractable epilepsy: etiology, risk factors and treatment. 329 46

A lethal carbamylphosphate synthetase (CPS: EC 6.3.4.16) deficiency (McKusick 23730) was found in a newborn girl; who presented on the second day of life with acute hyperammonaemia, hypotonia, seizures and who died in a coma 6 days after birth. The activity of the mitochondrial urea cycle enzymes, CPS and ornithine transcarbamylase (OTC: EC 2.1.3.3) were measured on a needle biopsy sample taken from liver and showed that CPS was 1.4% of the normal mean (0.09 nmol/min/mg protein) whereas OTC activity was normal (110 nmol/min/mg protein). Immunological analysis of the liver sample showed no detectable immunoreactive CPS and confirmed the presence of normal levels of OTC. RNA was extracted from postmortem liver and in vitro translation experiments showed that there was no translatable CPS mRNA and confirmed that no CPS protein was synthesized in this child. The absence of translatable mRNA is explicable in terms of a genetic defect which results in a failure to synthesize mRNA for CPS, or synthesis of a defective form of mRNA which is not translated.
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PMID:A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA. 643 91

This open trial assessed the effects of adjunctive progesterone therapy on seizure frequency in 25 women with catamenial exacerbation of complex partial (CPS) and secondary generalized motor (SGMS) seizures. Progesterone was well tolerated by 23 of the 25 women and had readily reversible dose-related side effects of asthenia and emotional depression in two. Eighteen women (72%) experienced a decline in seizure frequency during a 3-month treatment period compared with the 3 months prior to therapy (p < 0.01). Average daily CPS frequency declined by 54% (p < 0.01), SGMS by 58% (p < 0.02).
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PMID:Progesterone therapy in women with complex partial and secondary generalized seizures. 767 23

A 33-year-old right-handed woman had intractable simple and complex partial seizures (SPS, CPS) that began with global aphasia. EEG closed-circuit TV (EEG-CCTV) monitoring with sphenoidal electrodes showed left inferomesial temporal ictal onset of CPS. Subdural electrodes were implanted over the left frontotemporal convexity, subtemporally and subfrontally. Stimulation of the basotemporal cortex produced global aphasia. A posterolaterotemporal language area was also identified. Spontaneous SPS had focal onset in the basal temporal language area (BTLA). Ictal discharges did not involve the posterotemporal region. This case shows that aphasic speech arrest at seizure onset may be due to seizure discharge in the basotemporal region and that the BTLA is clinically relevant in seizure semiology.
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PMID:Global aphasia with seizure onset in the dominant basal temporal region. 792 55

A house-to-house, cross-sectional, population study of epilepsy on 24,130 individuals of all ages from southern Pakistan indicates an age-specific prevalence rate of 9.99 in 1,000 (14.8 in 1,000 in rural and 7.4 in 1,000 in urban areas) for recurrent, nonfebrile "active" epilepsy in Pakistan. Mean onset of epilepsy was 13.3 years, and 74.3% epileptic persons were aged < 19 years at onset of the disorder. The most common seizure type was tonicclonic in 77% [primary generalized tonic-clonic (GTC) in 59% and secondarily generalized in 18%], simple partial (SPS) in 5%, complex partial (CPS) in 6%, generalized absence in 1%, tonic in 3%, and myoclonic in 3% cases. Multiple seizures types in the same person were evident in 9.6% of only the generalized group. A putative cause could be suggested in 38.4% of cases: 32% had a positive family history of epilepsy, most common among siblings. Common perceived precipitants included fever in 29.2% and emotional disturbances in 16.6%. Only 3% of epileptic persons believed that their illness was due to super-natural causes. Treatment status was very poor, with only 2% rural and 27% urban epileptic persons receiving antiepileptic drugs (AEDs) at the time of the survey. We discuss the logistic and management problems of population-based epidemiologic studies in developing countries.
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PMID:Epilepsy in Pakistan: a population-based epidemiologic study. 792 66

To define further the electroclinical manifestations of frontal lobe epilepsy (FLE), we studied 150 seizures manifested by 24 patients; 18 patients had subdural electrode arrays (SEA). The findings in these patients clearly overlapped presumably reflecting the interconnections between functionally related frontal zones; yet the manner in which the symptoms clustered and the sequence in which they occurred generally indicated the anatomic site of the epileptogenic zone. We divided the patients into three major groups: (a) those with supplementary motor seizures, (b) those with focal motor seizures, and (c) those with complex partial seizures (CPS, psychomotor seizures). Supplementary motor seizures began with tonic posturing of the extremities. Focal motor seizures generally began with conscious contralateral version or unilateral clonic focal motor activity; tonic posturing was noted only late in the seizure. CPS (psychomotor) began with unresponsiveness at onset, followed by staring or unconscious contraversion. We compared frontal lobe seizures with temporal lobe seizures reported previously; oral-alimentary automatisms, repetitive hand movements, or looking around, were more common in temporal lobe seizures, whereas tonic posturing and bicycling movements were more common in frontal lobe psychomotor seizures.
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PMID:Frontal lobe seizures: electroclinical syndromes. 800 3

A 6.5-year-old boy developed seizures at age 2.8 years consisting of episodes of unconsciousness and laughing attacks. By age 6 years, multiple seizure types, including generalized tonic-clonic (GTC), complex partial (CPS) and akinetic seizures, and drop attacks were occurring several times daily. EEG showed multifocal epileptic discharges. Antiepileptic drugs (AEDs) did not control the seizures. With progression of the epilepsy, cognitive deterioration developed. There were no manifestations of precocious puberty. Neuroimaging disclosed a suprasellar mass in continuity with the hypothalamus, and a diagnosis of hypothalamic hamartoma was made. After surgical resection of the hamartoma, the seizures were completely alleviated, and the epileptic EEG discharges disappeared. Improvement of mental function was also noted.
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PMID:Surgical treatment of intractable seizures due to hypothalamic hamartoma. 802 96

We conducted a retrospective longitudinal self-controlled study of 124 adult patients treated with resective surgery for medically uncontrolled partial epilepsy from 1949 to 1988. Approximately 65% of the patients experienced > 95% reduction in seizure frequency, and 75% had worthwhile improvement of at least 75% seizure reduction. Significant reductions were noted in all major seizure types treatable with resective surgery; complex partial (CPS), simple partial (SPS), and secondarily generalized tonic-clonic seizures (GTC) (all p < 0.05). Tissue pathology and region of resection did not provide significant information with respect to seizure outcome. EEG in the first postoperative year was an important predictor of long-term seizure outcome (p = 0.03). One third of the temporal lobe resected patients had neurologic deficits as a consequence of the resection as compared with 14% of patients with frontal resections (p = 0.03). One third of the deficits among the temporal lobe resected patients were considerable, with possible social implications. Half of the patients with preoperative focal spike activity had a normal EEG postoperatively. One fifth of patients maintained their preoperative epileptic focus after the operation, and about one fifth displayed new foci. Approximately one fourth of the patients were free of medication for a median of 16 years postoperatively, and 60% of patients who were seizure-free were still receiving medication. There was no operative mortality, but the late mortality, as expected, was higher than that of the general population. Two male patients (1.6%) committed suicide.
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PMID:Surgical treatment for partial epilepsy among Norwegian adults. 802


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