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)

Sleep disturbances are a common complaint among patients with epilepsy. Studies assessing the relationship between sleep and epilepsy during childhood are scarce. The purpose of this study was to evaluate sleep habits in children with epilepsy. This cross-sectional study of children with and without epilepsy employed two questionnaires to evaluate sleep habits. Characteristics of both sleep habits and epilepsy (type of seizure, epileptic syndrome, number of seizures, use of anticonvulsant drugs) were collected from parental interviews and medical records. Our results indicate that children with epilepsy have a greater incidence of sleep problems compared with children without epilepsy. In those with epilepsy, we observed that nocturnal seizures, polytherapy, developmental delay, refractory epilepsy, generalized seizures, and epileptic syndromes with an unfavorable outcome are associated with poor sleep habits.
...
PMID:Evaluation of sleep habits in children with epilepsy. 1749 54

Sleep disorders are common in childhood. The prevalence of childhood sleep disorders is higher in chronic neurologic disorders, specifically epilepsy. Sleep needs, requirements, and structure are different in children compared with adults. These variables are disrupted severely in patients with epilepsy. Electroencephalogram abnormalities, nocturnal seizures, and medications may contribute further to sleep problems and affect daytime functioning. These sleep disturbances may worsen seizure control and affect quality of life. This article offers an overview of the normal sleep patterns in children, describes the interaction of electroencephalogram, sleep, and commonly found sleep disorders, and reviews the current literature of the main sleep disturbances found in children with epilepsy.
...
PMID:Pediatric sleep and epilepsy. 1761 42

While the cause of autism remains unknown, the high concordance between monozygotic twins supports a strong genetic component. The importance of genetic factors in autism encourages 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 (i) face validity (resemblance to the human symptoms) (ii) construct validity (similarity to the underlying causes of the disease) and (iii) predictive validity (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, to define robust phenotypes in mouse models of autism. Ideal mouse models will incorporate analogies to the three diagnostic symptoms of autism: abnormal social interactions, deficits in communication and high levels of repetitive behaviors. Social approach is tested in an automated three chambered apparatus that offers the subject a choice between spending time with another mouse, with a novel object, or remaining in an empty familiar environment. Reciprocal social interaction is scored from videotapes of interactions between pairs of unfamiliar mice. Communication is evaluated by measuring emission and responses to vocalizations and olfactory cues. Repetitive behaviors are scored for measures of grooming, jumping, or stereotyped sniffing of one location or object. Insistence on sameness is modeled by scoring a change in habit, for example, reversal of the spatial location of a reinforcer in the Morris water maze or T-maze. Associated features of autism, for example, mouse phenotypes relevant to anxiety, seizures, sleep disturbances and sensory hypersensitivity, may be useful to include in a mouse model that meets some of the core diagnostic criteria. Applications of these assays include (i) behavioral phenotyping of transgenic and knockout mice with mutations in genes relevant to autism; (ii) characterization of inbred strains of mice; (iii) evaluation of environmental toxins; (iv) comparison of behavioral phenotypes with genetic factors, such as unusual expression patterns of genes or unusual single nucleotide polymorphisms; and (v) evaluation of proposed therapeutics for the treatment of autism.
...
PMID:Mouse behavioral assays relevant to the symptoms of autism. 1791 30

The frequency of sleep disturbances in patients with epilepsy and their impact on quality of life (QoL) have been documented in a few reports, and the results are conflicting. We identified 124 consecutive epilepsy out-patients who visited the epilepsy out-patient clinics at the University Hospital of Alexandroupolis, the AHEPA Hospital in Thessaloniki and the Aeginitio Hospital in Athens. We measured excessive daytime sleepiness (EDS) with the Epworth Sleepiness Scale (ESS), obstructive sleep apnea (OSA) with the Sleep Apnea scale of the Sleep Disorders Questionnaire (SA-SDQ), and insomnia with the Athens Insomnia Scale (AIS). We evaluated quality of life by the Quality of Life in Epilepsy Inventory (QOLIE-31). EDS was found in 16.9% (21/124) of epileptic patients, OSA in 28.2% (35/124), and insomnia in 24.6% (30/122). In multivariate analysis, we found that insomnia was an independent negative factor for Total score (p<0.001), Overall QoL (p=0.002), Emotional well-being (p<0.001), Energy/fatigue (p<0.001), Cognitive functioning (p=0.04) and Social functioning (p=0.03), and OSA only for Cognitive functioning (p=0.01). According to our findings, EDS, OSA, and insomnia are frequent in epileptic patients. Epileptic patients with sleep disturbance, mainly insomnia, have significant QoL impairment.
Seizure 2008 Oct
PMID:Influence of sleep disturbance on quality of life of patients with epilepsy. 1839 19

Epilepsy is a common condition that affects up to 1% of the population. Patients with epilepsy are particularly sensitive to the adverse effects of sleep disruption. Failure to recognize and treat sleep disturbances can lead to worsening of attention, cognitive functioning, and quality of life, and can increase seizures. Anticonvulsant agents have the potential to either improve or worsen sleep and sleep disorders in patients with epilepsy. Therefore, awareness of the implications of sleep disorders and anticonvulsants is critical for the optimal care of patients with epilepsy.
...
PMID:Nocturnal seizures and the effects of anticonvulsants on sleep. 1846 Feb 84

Clustering of inhibitory gamma-aminobutyric acid(A) (GABA(A)) and glycine receptors at synapses is thought to involve key interactions between the receptors, a "scaffolding" protein known as gephyrin and the RhoGEF collybistin. We report the identification of a balanced chromosomal translocation in a female patient presenting with a disturbed sleep-wake cycle, late-onset epileptic seizures, increased anxiety, aggressive behavior, and mental retardation, but not hyperekplexia. Fine mapping of the breakpoint indicates disruption of the collybistin gene (ARHGEF9) on chromosome Xq11, while the other breakpoint lies in a region of 18q11 that lacks any known or predicted genes. We show that defective collybistin transcripts are synthesized and exons 7-10 are replaced by cryptic exons from chromosomes X and 18. These mRNAs no longer encode the pleckstrin homology (PH) domain of collybistin, which we now show binds phosphatidylinositol-3-phosphate (PI3P/PtdIns-3-P), a phosphoinositide with an emerging role in membrane trafficking and signal transduction, rather than phosphatidylinositol 3,4,5-trisphosphate (PIP3/PtdIns-3,4,5-P) as previously suggested in the "membrane activation model" of gephyrin clustering. Consistent with this finding, expression of truncated collybistin proteins in cultured neurons interferes with synaptic localization of endogenous gephyrin and GABA(A) receptors. These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory.
...
PMID:A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. 1861 34

Common childhood parasomnias, including those occurring at sleep onset and during rapid eye movement sleep or non-rapid eye movement sleep and their ontogeny are discussed. The events may be distressing to both the patient and family members. Stereotypic movements characteristic of some parasomnias most likely arise from disinhibition of subcortical central pattern generators. Genetic predisposition, an inherent instability of non-rapid eye movement sleep and underlying sleep disturbances such as obstructive sleep apnea may predispose to the activation of confusional arousals, sleep walking or sleep terrors. Many parasomnias can be recognized by history alone, but some require nocturnal polysomnography for appropriate diagnosis and management. A scheme to distinguish non-rapid eye movement sleep parasomnias from nocturnal seizures is provided. Behavioral therapy has a role in the management of many childhood parasomnias, but evidence based recommendations are as yet unavailable.
...
PMID:Parasomnias in childhood. 1906 29

The paraneoplastic syndrome caused by Ma2/Ta antibodies alone (not in conjunction with Ma1 or Ma3 antibodies) varies in presentation from classic limbic encephalitis. The Ma2 syndrome may present with symptoms referable to the brainstem, diencephalon, and limbic system. These clinical symptoms are accompanied by MRI changes and abnormal electroencephalographic findings. It is important to recognize when the encephalitic syndrome is secondary to Ma2 paraneoplastic antibodies, as the patients improve or stabilize most often when the underlying carcinoma is treated. Treatment of the paraneoplastic syndrome begins with recognition of the symptoms, such as memory impairment, seizures, sleep disturbances, bradykinesia or hypokinesia, and eye movement abnormalities. If a primary tumor is discovered during the workup, it should be removed and treated with the most up-to-date oncologic treatment available. In addition to oncologic treatment, the syndrome may be treated with an immunosuppressant regimen to optimize the neurologic outcome. Leaving the patient untreated will result in decline and eventual death from the cancer itself or from complications of the paraneoplastic syndrome.
...
PMID:Treatment of anti-Ma2/Ta paraneoplastic syndrome. 1909 36

People with epilepsy exhibit high rates of sleep disturbances. In many cases, these sleep disruptions appear to be related to the occurrence of the seizures themselves. Changes in sleep structure may reflect underlying changes in the circadian clock, as circadian rhythms of locomotor activity, body temperature, and hormone release are disrupted following a seizure. The present study was designed to determine if a single generalized seizure could alter the phase and waveform of the circadian rhythm of wheel-running behavior in the Syrian hamster. Animals were housed in constant darkness, and were administered either a sham treatment or a maximal electroconvulsive shock at one of three time-points: 6 h before activity onset, 1 h after activity onset, or 6 h after activity onset. Seizures at all of these phases did not significantly affect the phase of the circadian activity rhythm. The circadian locomotor activity levels were significantly attenuated following seizures at all three phases. This attenuation was prominent over the 24 h following the seizure, and was also evident over the three post-seizure days. These data suggest that while seizures do not affect phase, they may alter the amplitude of the circadian clock. Because the amplitude of the circadian clock affects sleep quality, these findings suggest one mechanism by which persistent seizures may decrease the quality of sleep in patients with epilepsy.
...
PMID:A single generalized seizure alters the amplitude, but not phase, of the circadian activity rhythm of the hamster. 1914 54

Sleep disturbances and epilepsy are common in Angelman syndrome (AS). This study examines seizure variables and sleep in a large AS cohort. Sleep disturbances and epilepsy were assessed in 290 individuals with AS using two questionnaires, including the Behavioral Evaluation of Disorders of Sleep (BEDS). Sensitivity to the sleeping environment, decreased nightly hours of sleep, and a difficulty initiating sleep were significantly correlated with the presence of epilepsy, particularly focal seizures. Use of multiple anticonvulsant drugs was shown to affect sleep. No significant associations were present between molecular subtypes of AS and individual sleep factors. Sleep problems appeared to be associated with epilepsy in individuals with AS, especially with focal and absence seizures and multiple seizure types. Results were consistent with those of prior studies assessing sleep in AS. Severity of epilepsy and use of anticonvulsant drugs may be related to a higher degree of sleep disturbance in this population.
...
PMID:Epilepsy and the sleep-wake patterns found in Angelman syndrome. 1945 16


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