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)

Although frequently underdiagnosed, several epidemiological studies have estimated the prevalence of restless legs syndrome (RLS) in western countries at 5-15% of the general population. The diagnosis is usually made on a clinical basis, according to the criteria established by the international RLS study group. There are case reports of transient RLS in opiate withdrawal. We describe three opiate (dextropropoxyphene (DPP)) dependent young male patients; two of them had DPP intoxication/withdrawal seizure developing RLS during opiate withdrawal. However, their RLS persisted even after the remission of other withdrawal symptoms. Thyroid function test, hemogram, serum ferritin were normal in all of them. The cases responded well to a treatment with ropinirole. Hence, there might be a causal association, which required further well-designed studies to substantiate. The sleep disturbances and use of benzodiazepines can be minimized by increasing clinician's sensitivity to diagnose RLS.
...
PMID:Restless legs syndrome in opioid dependent patients. 2470 Oct 19

Sleep disturbance is common in several epilepsy types, such as juvenile myoclonic epilepsy (JME). Genetic background could increase susceptibility to seizure and sleep abnormalities. From this perspective, a susceptibility gene for sleep disturbance or chronotype could contribute to the genetic susceptibility threshold for epilepsy and vice versa. Accordingly, we investigated whether functional clock gene polymorphisms (PER2 111C>G, CLOCK 3111T>C, and PER3 VNTR) might influence the risk for JME. All these polymorphisms have recently been reported to be associated with sleep disturbance, diurnal variation, and neurological diseases. The polymorphisms were genotyped in 97 patients and 212 controls using polymerase chain reaction or restriction fragment length polymorphism methods. No significant differences were observed in the genotypic and allelic frequencies of these polymorphisms between cases and controls even when analyses were restricted to patients that presented a diurnal preferential seizure occurrence. We also tested for interactions between polymorphisms by multifactor dimensionality reduction analysis. None of the combined genotypes differed significantly between the groups. These results present no evidence for an association of these polymorphisms with JME. Further studies including other types of epilepsy and/or other functional polymorphisms are required to investigate the possible relationship between clock genes and the genetic susceptibility to chronic seizure.
 ...
PMID:PER2 rs2304672, CLOCK rs1801260, and PER3 rs57875989 polymorphisms are not associated with juvenile myoclonic epilepsy. 2489 53

A nine-year-old female with a history of perinatal stroke, seizures, and type-I diabetes was seen for six weeks of Reiki to determine the effects of Reiki on relaxation, and in turn, the prevention of future seizures. The secondary and tertiary aims were to determine the effects of Reiki on sleep patterns and the stress levels of the mother. There was a decrease in stress in both the child and the mother, as measured by a modified Perceived Stress Scale and a Perceived Stress Scale, respectively. There was no change in the child's overall sense of well-being, as measured by a global questionnaire. There was a positive change in sleep patterns on 33.3% of the nights during which the study occurred, as reported on a sleep log kept by the mother. The child and the Reiki Master (a Reiki practitioner who has completed all three levels of Reiki certification training and trains and certifies individuals in the practice of Reiki as well as provides Reiki to individuals) experienced warmth and tingling sensations on the same area of the child during the Reiki sessions. The child relaxed within the first five to seven minutes of each session as reported by the Reiki Master. There were no reports of seizures during this study. Reiki may be a useful adjunct for children with increased stress levels and sleep disturbances secondary to their medical condition. Further research is warranted to evaluate the use of Reiki in children, particularly with a large sample size, and to evaluate the long-term use of Reiki and its effects on adequate sleep.
...
PMID:Reiki brief report: using Reiki to reduce stress levels in a nine-year-old child. 2503 69

Infantile hemangiomas (IH) are common benign vascular tumors seen in children. Although the majority will improve spontaneously without treatment, a small subset will require therapy due to a variety of complications. Less than a decade ago, propranolol replaced corticosteroids as first-line treatment for most IH and it has proven to be a relatively safe, effective therapy. After initiation of propranolol, most hemangiomas show evidence of significant improvement relatively rapidly, often within days. Although propranolol is generally felt to have a more limited side-effect profile than systemic corticosteroids, its use has been infrequently associated with adverse events, including sleep disturbances, acrocyanosis, hypotension, bradycardia, respiratory events, and hypoglycemia. Rarely, hypoglycemic seizures have been reported, usually occurring in the setting of prolonged fasting.
...
PMID:Beta-blockers as therapy for infantile hemangiomas. 2504 34

Temporal lobe epilepsy (TLE) often becomes refractory, and patients with TLE show a high incidence of psychiatric symptoms, including anxiety and depression. Therefore, it is necessary to identify molecules that were previously unknown to contribute to epilepsy and its associated disorders. We previously found that the sialyltransferase ST3Gal IV is up-regulated within the neural circuits through which amygdala-kindling stimulation propagates epileptic seizures. In contrast, this study demonstrated that kindling stimulation failed to evoke epileptic seizures in ST3Gal IV-deficient mice. Furthermore, approximately 80% of these mice failed to show tonic-clonic seizures with stimulation, whereas all littermate wild-type mice showed tonic-clonic seizures. This indicates that the loss of ST3Gal IV does not cause TLE in mice. Meanwhile, ST3Gal IV-deficient mice exhibited decreased acclimation in the open field test, increased immobility in the forced swim test, enhanced freezing during delay auditory fear conditioning, and sleep disturbances. Thus, the loss of ST3Gal IV modulates anxiety-related behaviors. These findings indicate that ST3Gal IV is a key molecule in the mechanisms underlying anxiety - a side effect of TLE - and may therefore also be an effective target for treating epilepsy, acting through the same circuits.
 ...
PMID:Sialyltransferase ST3Gal IV deletion protects against temporal lobe epilepsy. 2506 7

Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS.
 ...
PMID:Periventricular nodular heterotopia in Smith-Magenis syndrome. 2525 26

2q23.1 deletion syndrome is characterized by intellectual disability, speech impairment, seizures, disturbed sleep pattern, behavioral problems, and hypotonia. Core features of this syndrome are due to haploinsufficiency of MBD5. Deletions that include coding and noncoding exons show reduced MBD5 mRNA expression. We report a patient with a neurological and behavioral phenotype similar to 2q23.1 deletion syndrome with an inherited intronic deletion in the 5-prime untranslated region of MBD5. Our data show that this patient has normal MBD5 mRNA expression; therefore, this deletion is likely not causative for 2q23.1 deletion syndrome. Overall, it is important to validate intronic deletions for pathogenicity.
...
PMID:Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression. 2542 69

Dravet Syndrome (DS) is caused by heterozygous loss-of-function mutations in voltage-gated sodium channel NaV1.1. Our mouse genetic model of DS recapitulates its severe seizures and premature death. Sleep disturbance is common in DS, but its mechanism is unknown. Electroencephalographic studies revealed abnormal sleep in DS mice, including reduced delta wave power, reduced sleep spindles, increased brief wakes, and numerous interictal spikes in Non-Rapid-Eye-Movement sleep. Theta power was reduced in Rapid-Eye-Movement sleep. Mice with NaV1.1 deleted specifically in forebrain interneurons exhibited similar sleep pathology to DS mice, but without changes in circadian rhythm. Sleep architecture depends on oscillatory activity in the thalamocortical network generated by excitatory neurons in the ventrobasal nucleus (VBN) of the thalamus and inhibitory GABAergic neurons in the reticular nucleus of the thalamus (RNT). Whole-cell NaV current was reduced in GABAergic RNT neurons but not in VBN neurons. Rebound firing of action potentials following hyperpolarization, the signature firing pattern of RNT neurons during sleep, was also reduced. These results demonstrate imbalance of excitatory vs. inhibitory neurons in this circuit. As predicted from this functional impairment, we found substantial deficit in homeostatic rebound of slow wave activity following sleep deprivation. Although sleep disorders in epilepsies have been attributed to anti-epileptic drugs, our results show that sleep disorder in DS mice arises from loss of NaV1.1 channels in forebrain GABAergic interneurons without drug treatment. Impairment of NaV currents and excitability of GABAergic RNT neurons are correlated with impaired sleep quality and homeostasis in these mice.
...
PMID:Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome. 2576 78

The term encephalopathy encompasses a wide variety of complex syndromes caused by a large number of different toxic, metabolic, infectious, and degenerative derangements. Acute encephalopathy typically presents with a fluctuating course involving alteration of mental status or confusion and decreased (or rarely increased) motor activity. There usually are lethargy, cognitive impairment, altered memory and mental processing of information, and disturbed sleep-wake cycles. Encephalopathy mainly occurs in the elderly and is frequently encountered in intensive care units and postoperatively. Despite new diagnostic procedures and advances in intensive medical care, acute encephalopathy constitutes a significant cause of morbidity and mortality in hospitalized patients. EEG enables rapid bedside electrophysiological monitoring providing dynamic real-time information on neocortical brain activity and dysfunction. Hence, EEG complements clinical and neuroimaging assessments of encephalopathic patients. Progressive slowing of EEG background activity with increasing cerebral compromise, the emergence of episodic electrographic transients, seizures, and decreased EEG reactivity to external stimuli provide important diagnostic and prognostic information. The aim of this review was to provide a comprehensive overview of the current evidence for the diagnostic and prognostic value of EEG in adult intensive care unit patients with acute nonhypoxic encephalopathy.
...
PMID:EEG for Diagnosis and Prognosis of Acute Nonhypoxic Encephalopathy: History and Current Evidence. 2662 55

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features including agenesis of the corpus callosum, seizures, congenital heart defects, microcephaly, short stature, hypotonia, and Hirschsprung disease. The current study investigated sleep disturbance in people with MWS. In a series of unstructured interviews focused on development and behaviors in MWS, family members frequently reported sleep disturbance, particularly early-morning waking and frequent night waking. The Sleep Disturbance Scale for Children (SDSC) was therefore administered to a sample of 35 individuals with MWS, along with the Developmental Behaviour Checklist (DBC) to measure behavioral and emotional disturbance. A high level of sleep disturbance was found in the MWS sample, with 53% scoring in the borderline range and 44% in the clinical disorder range for at least one subscale of the SDSC. Scores were highest for the Sleep-wake transition disorders subscale, with 91% of participants reaching at least the borderline disorder range. A significant positive association was found between total scores on the SDSC and the DBC Total Behaviour Problem Score. These results suggest that sleep disorders should be screened for in people with MWS, and where appropriate, referrals to sleep specialists made for management of sleep problems.
 ...
PMID:Sleep disturbance in Mowat-Wilson syndrome. 2668 79


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