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

Three cases (2 boys, 1 girl) of trisomy 12p syndrome are reported. In two, the disorder is caused by a malsegregation of a maternal translocation, the karyotype being 46,XY,der(18),t(12;18)(p11;q23) (case 2) and 46,XX,-10,+ der(10),t(10;12)(p15;p11) (case 3). Case 1 is a de novo case with a regular trisomy 12p in the fibroblasts: 47,XY + (12pter----12 cen. . .?) and a mosaic trisomy 12p in lymphocytes: 46,XY/47,XY, + (12pter----12 cen. . .?). In all cases, the EEG showed 3-Hz generalized spike and wave (SW) discharges. Generalized epilepsy with myoclonic seizures was present in two patients (cases 1 and 2), who may be considered to have a symptomatic generalized epilepsy with a specific etiology. Case 3 has shown only febrile seizures. Any association between the excess of genetic material and the EEG trait "generalized SW" might not be a chance occurrence in this disorder; however, both EEG findings and clinical features (seizure type and frequency) in the 23 cases reported in the literature are too scanty to allow confirmation of such an association.
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PMID:Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges. 240 Dec 47

Through the effective combination of instrumentation, tracer kinetic principles, and radiopharmaceuticals, positron computed tomography (PET) allows for the analytic, noninvasive measurement of local tissue physiology in humans. A large number of studies have already been performed in patients with epilepsy using 18F-fluorodeoxyglucose (FDG) to measure local cerebral glucose utilization. In patients with complex partial epilepsy who are candidates for surgery, hypometabolic zones have been seen consistently (70%) in the interictal state. These areas of hypometabolism have been related to electroencephalographic findings, surgical pathology, and clinical symptomatology. The complex anatomical and pathophysiological investigation of these hypometabolic zones is discussed. Ictal studies of patients with partial seizures have demonstrated a much more variable metabolic pattern which usually consists of hypermetabolism relative to baseline or interictal studies. Generalized epilepsy produced by electroconvulsive shock and petit mal epilepsy have been studied using FDG to estimate glucose metabolism. These studies demonstrated hypermetabolism in the ictal state, relative to interictal or postictal scans, but with a more generalized pattern than ictal studies of partial seizures. Methodological problems in the study of epilepsy with PET are discussed in detail. The investigation of interictal hypometabolism through animal models of epilepsy and quantitative autoradiography is described as a means to understand the human PET results. The impact and future direction of PET studies in epileptic populations will probably employ the use of behavioral, pharmacological, and electrophysiological maneuvers to provide more specific details about the fundamental pathophysiological mechanisms of specific aspects of epilepsy. These techniques may allow for a truly pathophysiological classification system for the common and unusual types of epilepsy, and through this classification system improve the therapeutic and prognostic clinical approach to patients.
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PMID:The use and impact of positron computed tomography scanning in epilepsy. 643 Jun 93

A 19-year-old man had reading-induced epilepsy; generalized seizures were preceded by myoclonus of the jaw. Although reading epilepsy is usually refractory to anticonvulsant therapy, treatment with clonazepam resulted in complete control of the involuntary movements precipitated by reading.
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PMID:Clonazepam therapy in reading epilepsy. 676 6

The role of the inter-ictal EEG in predicting seizure relapse after antiepileptic drug withdrawal (AED-W) is unclear. A prospective study on AED-W is in progress. This trial includes routine and sleep EEG recordings every 3 and 6 months, respectively, at each step of the drug discontinuation and periodically during follow-up. Data obtained for 136 patients (mean age 23.2 years; 63 with Idiopathic Generalized Epilepsy IGE, 73 with Partial Cryptogenic or Symptomatic Epilepsy PE; without associated neuropsychiatric handicap; with at least 1 year of follow-up after AED-W) were analysed. EEG recordings from seizure onset were available for all patients. Data were analysed separately in IGE and PE patients. The presence of inter-ictal epileptiform abnormalities (IEAs) at the seizure onset and just before AED-W does not seem to predict the AED-W outcome. However, results indicate an association between persisting and increased IEAs during AED-W and a higher relapse rate in both groups, which was statistically significant in the IGE patients.
Seizure 1993 Sep
PMID:Drug withdrawal in patients with epilepsy: prognostic value of the EEG. 816 85

In 1945, Lennox was the first to describe the epileptic states mainly expressed by various degrees of consciousness disturbance, which have their onset in children who present epileptic absences correlated with ictal EEG patterns of spike-wave complex discharges at about 3 Hz. As the clinical picture seemed to be similar to an uninterrupted series of absences, this led to the definition "Petit Mal Status" (PMS). Many authors have subsequently reported that PMS can occur in epileptic subjects who have never presented absences (and even in subjects without a previous history of epilepsy) and that the related EEG pictures were characterised by paroxysmal generalized activity of various morphology, but hardly ever consisted of the continuous rhythmic spike-wave or polyspike-wave complexes at 3 Hz found in petit mal absences. Finally, in reporting the onset and recurrence of this condition typically in adults and the elderly, some authors have proposed the existence of a particular form of PMS (dependent on different types of pathologic factors and characterising a specific syndrome of this age) that is different from that of the "real PMS" typical of childhood and related to petit mal absences. This paper describes fifteen patients in whom the onset of the condition occurred at different ages, and who seem to exemplify the various possible clinical expressions of PMS, with the aim of making a contribution towards the better nosographic definition of this epileptic condition. On the basis of our study, we sustain that the so-called PMS is a seizure type of Idiopathic Generalized Epilepsy which may appear at nearly all ages, and may occur in isolation or in association with other epileptic manifestations, but cannot itself be considered as characterising one or more age-dependent syndromes.
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PMID:So-called "petit mal status": epileptic syndrome or seizure type? 853 16

Primary Generalized Epilepsy (PGE) has been more hotly debated over the past decades than other forms of epileptic seizure disorder. The sudden synchronous appearance of bilateral spikes and spike-waves (mainly with myoclonus resp. absence) used to perplex the earliest generation of electroencephalographers, and the enigmatic genesis of these discharges (and seizures) has not ceased to fascinate the investigators of this phenomenon. A "centrencephalic" concept with paroxysmal discharges arising from thalamic structures and "projecting" to the cortex was championed for many years and eventually laid aside. More recently, the role of the thalamic level has been re-emphasized, mainly on the basis of experimental work. In this article, the bulk of experimental work is critically reviewed: the simian model (Papio papio), the feline, and the rodent models (Wistar rat, tottering mouse). Stress is being laid on fundamental differences between all of these models and human PGE. EEG evidence indicates a superior frontal origin of bilateral-synchronous spikes and spike-waves; depth EEG recordings in patients have failed to demonstrate primary thalamic spike generation. The heart of the matter in PGE appears to be the mechanism underlying paroxysmal discharges; above all the role of arousal. It is not awakening from sleep but the ensuing period that is critical in its epileptogenic thrust caused by alternating periods of return to drowsiness and arousing stimuli. This biphasic process gradually escalates EEG bursts to myoclonus (or absences) and possibly to a generalized tonic-clonic convulsion. Most conducive to this crescendo is the state of tiredness following a night of poor sleep. Bilateral synchrony is not precise and small time differences exist. The line between primary and secondary bilateral synchrony (with a primary cortical focus) can become blurred. Genetic predisposition to generalized paroxysms must always be considered, even in the face of a primary focus with secondary bilateral synchrony. Photosensitivity is a second paroxysm-inducing mechanism in PGE; it is much less common than the abnormal arousal ("dyshormia"); both mechanisms can be present in the same patient. Therapy and prevention of seizures in PGE are finally discussed. The concept of abnormal arousal mechanisms can be put into practice in order to prevent seizures: avoidance of sleepless nights, not always an easy task in adolescents and young adults.
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PMID:Primary (idiopathic) generalized epilepsy and underlying mechanisms. 871 97

Insertional inactivation of the jerky gene in transgenic mice resulted epileptic seizures, suggesting that the jerky gene was responsible for mouse epilepsy. To isolate a human homologue of the jerky gene, we screened an Expressed Sequence Tag (EST) database using the cDNA sequence of the mouse jerky gene and identified several EST clones which contained homologous sequences to mouse jerky gene. Using a clone which showed highest homology as a probe, we isolated cDNA clones from a human fetal brain cDNA library. Sequence analysis of these clones named JH8 (jerky homologue of Human on chromosome 8) indicated that it encoded a putative protein with 520 amino acid residues. The JH8 gene has 77% identity to the mouse jerky gene at the DNA level, and its protein has 76% identity and 84% similarity to the mouse protein at the amino acid level. Northern blot analysis showed that the JH8 gene is expressed ubiquitously with a major transcript of about 9.5 kb in size. Fluorescence in situ Hybridization (FISH) analysis and radiation hybrid panel mapping revealed that the JH8 gene was located on chromosome band 8q24.3 in a region that was syntenic to mouse chromosome 15, the mapping site of the mouse jerky gene. Childhood Absence Epilepsy (CAE), one type of Idiopathic Generalized Epilepsy (IGE), has been mapped to chromosome 8q24.3 by linkage analysis. These results suggest that JH8 is a strong candidate gene for CAE.
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PMID:JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. 967 32

The 1989 International Classification of Epilepsies confirmed the existence of a category of Idiopathic Generalized Epilepsies (IGE), which includes a list of age-dependent syndromes that are supposed to share a common mechanism. Recent clinical, experimental and genetic data have shown that the group of IGEs is indeed heterogeneous, that various mechanisms are implied, and that the limits of this category remain comparatively unclear, especially versus cryptogenic or symptomatic generalized epilepsies. There is no such thing as a truly "generalized" epilepsy, and "idiopathic" means in fact that epileptic seizures are the only, or predominant symptom of the condition. The pharmacological sensitivity (some drugs control IGEs, other drugs usually aggravate them) seems to be common to a majority of the syndromes of IGE. The concept of IGE remains useful in clinical practice, and should be widened to include newly described syndromes.
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PMID:[Limitations of the concept of idiopathic generalized epilepsy]. 1022 15

Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individuals, to localize the gene causing epilepsy in a large family segregating an autosomal dominant form of GEFS+. A genomewide search examining 197 markers identified linkage of GEFS+ to chromosome 2, on the basis of an initial positive LOD score for marker D2S294 (Z=4.4, recombination fraction [straight theta] = 0). A total of 24 markers were tested on chromosome 2q, to define the smallest candidate region for GEFS+. The highest two-point LOD score (Zmax=5.29; straight theta=0) was obtained with marker D2S324. Critical recombination events mapped the GEFS+ gene to a 29-cM region flanked by markers D2S156 and D2S311, with the idiopathic generalized epilepsy locus thereby assigned to chromosome 2q23-q31. The existence of the heterogeneous epilepsy phenotypes in this kindred suggests that seizure predisposition determined by the GEFS+ gene on chromosome 2q could be modified by other genes and/or by environmental factors, to produce the different seizure types observed.
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PMID:A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. 1067 28

Generalized epilepsy with febrile seizures plus (GEFS+) is a benign epileptic syndrome of humans. It is characterized by febrile and afebrile generalized seizures that occur predominantly in childhood and respond well to standard antiepileptic therapy. A mutation in the b1-subunit of the voltage-gated sodium channel, linked to chromosome 19q13 (GEFS+ type 1) has been found in one family. For four other families, linkage was found to chromosome 2q21-33 (GEFS+ type 2) where three genes encoding neuronal sodium channel a-subunits are located (SCN1-3A). Recently, the first two mutations were identified in SCN1A. We introduced one of these mutations, which is highly conserved to SCN1A, into the cDNA of the gene SCN4A encoding the a-subunit of the human skeletal muscle sodium channel (hSkm1). The mutation is located in the S4 voltage sensor of domain IV, predicting substitution of histidine for the fifth of eight arginines (R1460H in hSkm1). Functional studies were performed by expressing the a-subunit alone in the mammalian tsA201 cell line using the whole-cell patch clamp technique. Compared to wild-type (WT), mutant R1460H channels showed small defects in fast inactivation. The time course of inactivation was slightly (1.5-fold) slowed and its voltage dependence reduced, and recovery from inactivation was accelerated 3-fold. However, there was no increase in persistent sodium current as observed for SCN4A mutations causing myotonia or periodic paralysis. The activation time course of R1460H channels was slightly accelerated. Slow inactivation was slightly but significantly stabilized, confirming the importance of this region for slow inactivation. The combination of activation and fast inactivation defects can explain the occurrence of epileptic seizures, but the effects were much more subtle than the inactivation defects described previously for mutations in SCN4A causing disease in skeletal muscle. Hence, with regard to pathological excitability, our results suggest a greater vulnerability of the central nervous system compared to muscle tissue.
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PMID:A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro. 1111 88


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