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)

Alcohol dependence (alcoholism) is accompanied by evidence of tolerance, withdrawal (physiological dependence), or compulsive behavior related to alcohol use. Studies of strain and individual differences using animal models for acute physiological dependence liability are useful means to identify potential genetic determinants of liability in humans. Behavioral and quantitative trait analyses were conducted using animal models for high risk versus resistance to acute physiological dependence. Using a two-step genetic mapping strategy, loci on mouse chromosomes 1, 4, and 11 were mapped that contain genes that influence alcohol withdrawal severity. In the aggregate, these three risk markers accounted for 68% of the genetic variability in alcohol withdrawal. Candidate genes in proximity to the chromosome 11 locus include genes encoding the alpha1, alpha6, and gamma2 subunits of type-A receptors for the inhibitory neurotransmitter, GABA. In addition, suggestive linkage is indicated for two loci on mouse chromosome 2, one near Gad1 encoding glutamic acid decarboxylase, and the other near the El2 locus which influences the seizure phenotype in the neurological mutant strain El. The present analyses detect and map some of the loci that increase risk to develop physiological dependence and may facilitate identification of genes related to the development of alcoholism. Syntenic conservation between human and mouse chromosomes suggests that human homologs of genes that increase risk for physiological dependence may localize to 1q21-q32, 2q24-q37/11p13, 9p21-p23/1p32-p22.1, and 5q32-q35.
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PMID:Quantitative trait loci involved in genetic predisposition to acute alcohol withdrawal in mice. 913 12

Epstein-Barr virus encephalitis is a self-limiting disease with few sequelae. Persistence of neurologic deficits prior to and after the acute illness has yet to be described in children. We describe five children with persistent cognitive and focal neurologic deficits due to chronic Epstein-Barr virus encephalitis with various T2-weighted magnetic resonance imaging abnormalities. Clinical features were a 9-year-old boy with aphasia and apraxia, an 11-year-old girl with impulsivity and inappropriate behavior, a 17-year-old boy with deterioration of cognitive skills and judgment, a 5-year-old boy with complex-partial seizures, and a 6-year-old girl with obsessive-compulsive behavior. All patients had elevated serum Epstein-Barr virus titers for acute infection, with cerebrospinal fluid polymerase chain reaction positive for Epstein-Barr virus in four patients. Three children were treated with methylprednisolone with minimal improvement without changes on magnetic resonance imaging. Epstein-Barr virus encephalitis can present with chronic and insidious neurologic symptoms and should be considered in the differential diagnosis of children with acute or chronic neurologic illness of unknown etiology.
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PMID:Persistent preceding focal neurologic deficits in children with chronic Epstein-Barr virus encephalitis. 1119 93

We describe the case of a computer operator who experienced paroxysmal attacks several times in which she felt a compulsion to handle keys with her right hand or actually her right hand moved involuntarily in a key-handling rhythm. Cranial CT and MRI revealed a mass lesion in the left medial aspect of the frontal lobe (supplementary motor area). After the removal of this tumor (meningioma), there were no more paroxysmal attacks. We suggest that voluntary movements controlled by the supplementary motor area were deranged by seizures provoked by the tumor. This case is attractive in relation to obsessive-compulsive disorder.
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PMID:Paroxysmal compulsion to handle keys in a computer operator due to meningioma in the left supplementary motor area. 1156 6

Gilles de la Tourette's syndrome (TS) is a neurobehavioral disorder characterized by multiple motor and vocal tics, occurring longer than a year and causing marked distress along with social and occupational impairments in level of functioning. It can be accompanied by obsessive-compulsive behavior and attention deficit disorder. This report discusses the case of a young woman with a simple motor tic disorder and intractable seizures who, after right temporal lobectomy for medically intractable epilepsy, developed TS with complex motor and vocal tics, severe obsessive-compulsive disorder, and paranoia. This neurobehavioral complication has not to our knowledge been previously reported after epilepsy surgery.
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PMID:Tourette's syndrome following temporal lobectomy for seizure control. 1452

The goal of this article is to review the idiosyncratic aspects of the epilepsy of Fyodor Dostoevsky, one of the greatest writers of all time. The onset of his seizures is controversial, with some evidence pointing to his childhood and other reports that would place the onset in his teens or his twenties. His life in prison in Siberia and then in the Russian army is reviewed. His lifestyle included many factors that exacerbated his epilepsy, especially stress and sleep deprivation. His compulsion for gambling played an important role in producing great stress in his life, as he tried to reverse his poverty in the casinos. The most idiosyncratic aspect of his epilepsy was his so-called ecstatic aura. The etiology of his seizures was probably inherited as revealed by the seizures of his father and the status epilepticus and death of his young son. This great writer died from lung hemorrhages in 1891. Discussed in this review is that he did not likely have an aura of ecstasy; only a few such possible cases can be found in the world literature. For those few cases, evidence from electrical self-stimulation studies in animals and humans, investigating "pleasure centers," can be found to involve the limbic system, especially the septal nucleus. Data from the human amygdala provide evidence why almost all auras are, in fact, unpleasant and not pleasant. A review of recent data on the risks to offspring of epileptic fathers confirms that the etiology of Dostoevsky's epilepsy was probably inherited and that he probably had an idiopathic generalized epilepsy with minor involvement of the temporal lobe. A relationship is seen between his severe obsession with gambling and his epilepsy. Finally, Fyodor Dostoevsky is an excellent example of the "temporal lobe personality."
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PMID:The idiosyncratic aspects of the epilepsy of Fyodor Dostoevsky. 1640 45

We report on the aggravation of absence seizures by lamotrigine leading to absence status epilepticus in a child. The patient is a 10-year-old girl with a history of absence seizures, learning disabilities, and hereditary neuropathy with liability to pressure palsies. Lamotrigine (up to 12 mg/kg/day) was prescribed after a brief course of valproate was associated with restlessness. Long-acting methylphenidate was also administered. The initial response to lamotrigine appeared to be excellent. The first episode of absence status epilepticus occurred during a febrile illness while lamotrigine was being gradually discontinued. Following this event, lamotrigine dose was increased to 10 mg/kg/day and methylphenidate was continued. Six weeks later, a second absence status epilepticus episode ensued without fever. Sulthiame and clonazepam were substituted for lamotrigine, whereas methylphenidate therapy was continued. A psychiatrist prescribed risperidone 1 month later owing to obsessive-compulsive behavior. Nine months later, she remained free of absence seizures. Whereas the first absence status epilepticus event could have been triggered by fever, the second episode occurred while the daily lamotrigine dose was being increased. Moreover, the patient is seizure free following lamotrigine discontinuation. Hence, it is quite possible that lamotrigine caused seizure aggravation and absence status epilepticus in this child.
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PMID:Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy. 1697 Aug 92

Hypothalamic hamartomas (HH) are developmental malformations that are associated with gelastic seizures, other types of seizures, cognitive decline, and symptoms related to hypothalamic dysfunction. Although aggressive behavior is frequently described, data on the neuropsychiatric profile are limited. In this article, five patients with HH are described who displayed a wide variety of psychiatric symptoms that, dependent on the time frame, met the criteria for several categorical diagnoses. Major neuropsychiatric symptoms comprised aggression that is only partial context dependent, compulsive behavior, psychotic symptoms not responding to treatment, and organic mood instability. HH should therefore be considered a neuropsychiatric syndrome with a highly variable expression that can be best captured by a thorough description of behaviors, symptoms, sequelae of epilepsy, and hypothalamic dysfunction.
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PMID:Neuropsychiatric aspects of patients with hypothalamic hamartomas. 1760 10

Seventeen refractory partial epilepsy patients were enrolled in an open-label study to evaluate the antiepileptic effect of low-frequency repetitive transcranial magnetic stimulation (rTMS). Seven of the patients had not obtained seizure-free status after epileptogenic focus resection surgery before they were enrolled in the study. All patients were treated with low-frequency rTMS which included 3 sessions per day (0.5 Hz, 90% RMT and 500 pulses each session) and lasted for 2 weeks. Seizure frequency, seizure days and epileptic discharges in the EEG obtained before, during and after stimulation were compared. The psychological conditions of all individual patients were evaluated with Symptom Checklist-90 (SCL-90) before and after rTMS treatment. Mean seizure frequencies per week significantly decreased in the following 4-week rTMS treatment period compared with the pretreatment period (14.09 vs. 5.63, p < 0.05, mean reduction of 60.02% in seizure frequency). Mean seizure days per week during the treatment period and the post-treatment period were lower than that of the pretreatment period (5.18 vs. 2.99 p < 0.05, mean reduction of 42.5% in seizure days). Mean epileptic discharges in the EEG decreased significantly during the treatment period compared to that of the pre-treatment period (78.60 vs. 66.09, p < 0.05, mean reduction of 15.9% in epileptic spikes discharges) in all 17 patients. Fourteen patients completed the test of Symptom Checklist-90 effectively. The scales of Global Severity Index, Depression, Anxiety, Phobic anxiety, Paranoid ideation, Psychoticism, Somatization, Obsession-compulsion, Interpersonal sensitivity, Hostility in patients decreased respectively at the post-treatment periods compared with those of the pre-treatment periods (P < 0.05). Low-frequency rTMS may have a significant antiepileptic effect in patients with refractory partial epilepsy. Additionally, our results indicate rTMS treatment can improve the psychological condition of these patients.
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PMID:Low-frequency repetitive transcranial magnetic stimulation for the treatment of refractory partial epilepsy. 2130 41

Fragile X syndrome (FXS) is the most common known genetic form of intellectual disability and autism spectrum disorders. FXS patients suffer a broad range of other neurological symptoms, including hyperactivity, disrupted circadian activity cycles, obsessive-compulsive behavior, and childhood seizures. The high incidence and devastating effects of this disease state make finding effective pharmacological treatments imperative. Recently, reports in both mouse and Drosophila FXS disease models have indicated that the tetracycline derivative minocycline may hold great therapeutic promise for FXS patients. Both models strongly suggest that minocycline acts on the FXS disease state via inhibition of matrix metalloproteinases (MMPs), a class of zinc-dependent extracellular proteases important in tissue remodeling and cell-cell signaling. Recent FXS clinical trials indicate that minocycline may be effective in treating human patients. In this paper, we summarize the recent studies in Drosophila and mouse FXS disease models and human FXS patients, which indicate that minocycline may be an effective FXS therapeutic treatment, and discuss the data forming the basis for the proposed minocycline mechanism of action as an MMP inhibitor.
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PMID:Matrix metalloproteinases and minocycline: therapeutic avenues for fragile X syndrome. 2268 76

A novel antiepileptic drug, levetiracetam, has been reported to cause several psychiatric adverse effects in spite of its effectiveness on epilepsy. However, a possible relationship between levetiracetam and obsessive-compulsive behavior has only been reported in a few studies with adult epilepsy patients. We treated a pediatric patient with epilepsy without past or family history of psychiatric disorder. Levetiracetam was started to control generalized tonic-clonic seizure. Two months after initiation of levetiracetam with favorable seizure control, she started to show an obsessive-compulsive behavior such as repetitive checking of her back, pants, and chair. Based on the course of its appearance, levetiracetam administration was identified as a possible cause. After termination of levetiracetam, her obsessive-compulsive behavior completely disappeared with reappearance of seizures. This case provides clear evidence that levetiracetam may cause obsessive-compulsive behavior even in a pediatric epilepsy patient without psychiatric background, possibly mediated by modulation of the glutamate system by levetiracetam.
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PMID:Obsessive-compulsive behavior induced by levetiracetam. 2500 11


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