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Myoclonus

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121. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome Full Text available with Trip Pro

Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover (...) synthesis, cellular development, and cell death and survival. In comparison to WT littermates, Sgcem+/pGt mice exhibited "tiptoe" gait and stimulus-induced appendicular posturing between Postnatal Days 14 to 16. Abnormalities noted in older Sgcem+/pGt mice included reduced body weight, altered gait dynamics, and reduced open-field activity. Overt spontaneous or stimulus-sensitive myoclonus was not apparent on the C57BL/6J background or mixed C57BL/6J-BALB/c and C57BL/6J-129S2 backgrounds. Our data

2016 Neurobiology of disease

122. Unmasking of myoclonus by lacosamide in generalized epilepsy Full Text available with Trip Pro

Unmasking of myoclonus by lacosamide in generalized epilepsy Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile (...) myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued. This suggests that lacosamide may have the potential to worsen myoclonus, similar to what has been reported with another sodium channel agent, lamotrigine, in some individuals with genetic generalized epilepsy (GGE).

2016 Epilepsy & behavior case reports

123. Post-modern therapeutic approaches for progressive myoclonus epilepsy Full Text available with Trip Pro

Post-modern therapeutic approaches for progressive myoclonus epilepsy While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood

2016 Epileptic disorders : international epilepsy journal with videotape

124. Progressive Myoclonus Epilepsies: The Gene-Empowered Era Full Text available with Trip Pro

Progressive Myoclonus Epilepsies: The Gene-Empowered Era 27694067 2017 03 14 2017 11 18 1950-6945 18 S2 2016 Sep 01 Epileptic disorders : international epilepsy journal with videotape Epileptic Disord Progressive Myoclonus Epilepsy: The Gene-Empowered Era. 1-2 Minassian Berge A BA Striano Pasquale P Avanzini Giuliano G eng P01 NS097197 NS NINDS NIH HHS United States Introductory Journal Article Progressive Myoclonus Epilepsy: The Gene-Empowered Era. France Epileptic Disord 100891853 1294-9361

2016 Epileptic disorders : international epilepsy journal with videotape

125. The History of Progressive Myoclonus Epilepsies Full Text available with Trip Pro

The History of Progressive Myoclonus Epilepsies The history of the progressive myoclonus epilepsies (PMEs) spans more than a century. However, the recent history of PMEs begins with a consensus statement published in the wake of the Marseille PME workshop in 1989 (Marseille Consensus Group, 1990). This consensus helped define the various types of PME known at the time and set the agenda for a new era of genetic research which soon lead to the discovery of many PME genes. Prior to the Marseille

2016 Epileptic disorders : international epilepsy journal with videotape

126. Event related desynchronisation predicts functional propriospinal myoclonus Full Text available with Trip Pro

Event related desynchronisation predicts functional propriospinal myoclonus Recent diagnostic criteria for functional movement disorders have proposed a "laboratory supported" level of diagnostic certainty where the clinical diagnosis is supported by a positive test. For functional myoclonus the Bereitschaftspotential (BP) is generally accepted as a positive laboratory test. We hypothesised that a different EEG measure, event-related desynchronisation (ERD), might be more effective.We analysed (...) 20 patients with functional propriospinal myoclonus (fPSM) and 9 controls with organic myoclonus and performed back-averaging for BPs plus time-frequency decomposition to assess ERD and calculated sensitivity and specificity for both techniques.The BP was present in only 25% of patients with fPSM while the majority showed a significant ERD (mean 38 Hz; sensitivity 65%). ERD was significant at the group level (p < 0.001), but not the BP (p > 0.05). Both BP and ERD were absent in our control

2016 Parkinsonism & related disorders

127. Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus Full Text available with Trip Pro

Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus 27748348 2017 02 27 2018 12 02 2542-5641 129 20 2016 10 20 Chinese medical journal Chin. Med. J. Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus. 2508-2509 10.4103/0366-6999.191829 Zhang Xin-Yue XY Department of Neurology, Neuroscience Center, First Hospital of Jilin University, Changchun, Jilin 130021, China. Yu Jin-Bei JB Department of Neurology, Neuroscience Center, First Hospital (...) Anticonvulsants 33CM23913M Carbamazepine VZI5B1W380 Oxcarbazepine IM Adult Anticonvulsants therapeutic use Brain drug effects pathology physiopathology Carbamazepine analogs & derivatives therapeutic use Electroencephalography Epilepsy, Frontal Lobe diagnosis drug therapy Female Humans Myoclonic Epilepsy, Juvenile diagnosis drug therapy Myoclonus diagnosis drug therapy Oxcarbazepine 2016 10 18 6 0 2016 10 18 6 0 2017 2 28 6 0 ppublish 27748348 ChinMedJ_2016_129_20_2508_191829 10.4103/0366-6999.191829

2016 Chinese medical journal

128. Altered functional brain connectivity in children and young people with opsoclonus-myoclonus syndrome. (Abstract)

Altered functional brain connectivity in children and young people with opsoclonus-myoclonus syndrome. Opsoclonus-myoclonus syndrome (OMS) is a rare, poorly understood condition that can result in long-term cognitive, behavioural, and motor sequelae. Several studies have investigated structural brain changes associated with this condition, but little is known about changes in function. This study aimed to investigate changes in brain functional connectivity in patients with OMS.Seven patients

2016 Developmental Medicine and Child Neurology

129. Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain. Full Text available with Trip Pro

Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain. Myoclonus-dystonia is a neurogenic movement disorder caused by mutations in the gene encoding ɛ-sarcoglycan. By contrast, mutations in the α-, β-, γ-, and δ-sarcoglycan genes cause limb girdle muscular dystrophies. The sarcoglycans are part of the dystrophin-associated protein complex in muscle that is disrupted in several types of muscular dystrophy. Intriguingly, patients (...) with myoclonus-dystonia have no muscle pathology; conversely, limb-girdle muscular dystrophy patients have not been reported to have dystonia-associated features. To gain further insight into the molecular mechanisms underlying these differences, we searched for evidence of a sarcoglycan complex in the brain.Immunoaffinity chromatography and mass spectrometry were used to purify ubiquitous and brain-specific ɛ-sarcoglycan directly from tissue. Cell models were used to determine the effect of mutations

2016 Movement Disorders

130. Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study. Full Text available with Trip Pro

Effect of gabapentin pretreatment on myoclonus after etomidate: a randomized, double-blind, placebo-controlled study. To evaluate the effects of three different doses of gabapentin pretreatment on the incidence and severity of myoclonic movements linked to etomidate injection.One hundered patients, between 18 and 60 years of age and risk category American Society of Anesthesiologists I-II, with planned elective surgery under general anesthetic were included in the study. The patients were (...) . Two minutes after induction, 2μgkg(-1) fentanyl and 0.8mgkg(-1) rocuronium were administered for tracheal intubation.Demographic data were similar. Incidence and severity of myoclonus in Group G1200 and Group G800 were significantly lower than in Group P; sedation incidence and level were appreciably higher compared to Group P and Group G400. While there was no difference in the incidence of myoclonus between Group P and Group G400, the severity of myoclonus in Group G400 was lower than

2016 Brazilian journal of anesthesiology (Elsevier) Controlled trial quality: uncertain

131. The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1. Full Text available with Trip Pro

The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1. To explore the cortical network sustaining action myoclonus and to found markers of the resulting functional impairment, we evaluated the distribution of the cortico-muscular coherence (CMC) and the frequency of coherent cortical oscillations with magnetoencephalography (MEG). All patients had EPM1 (Unverricht-Lundborg) disease known to present with prominent and disabling movement-activated myoclonus.Using (...) ipsilateral and contralateral to the activated limb. Moreover, the beta-CMC peak occurred at frequencies significantly slower and more stable frequencies in EPM1 patients with respect to controls. The frequency of the beta-CMC peak inversely correlated with the severity of myoclonus.the high and spatially extended beta-CMC peaking in a restricted range of low-beta frequencies in EPM1 patients, suggest that action myoclonus may result not only from an enhanced local synchronization but also from a specific

2016 BMC Neurology

132. Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)

Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) - Full Text (...) View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome

2013 Clinical Trials

133. Psychiatric disorders, myoclonus dystonia and SGCE: an international study Full Text available with Trip Pro

Psychiatric disorders, myoclonus dystonia and SGCE: an international study Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of psychiatric disorders amongst SGCE mutation-positive populations. We analyzed the psychiatric data from four international centers

2015 Annals of clinical and translational neurology

134. Primary pancreatic neuroblastoma presenting with opsoclonus–myoclonus syndrome Full Text available with Trip Pro

Primary pancreatic neuroblastoma presenting with opsoclonus–myoclonus syndrome Although neuroblastoma is a common solid organ malignancy in children, primary pancreatic neuroblastoma is a rare entity in children, with very few cases reported in the literature. The case discusses the presentation of a 21-month-old female presenting to the neurology clinic with ataxia and erratic eye movements. Our case illustrates the computed tomography, ultrasound, and scintigraphic findings of primary (...) pancreatic neuroblastoma presenting as opsoclonus-myoclonus syndrome. Computed tomography and ultrasound demonstrated a vascular, enhancing mass in the pancreatic body clearly separate from the adrenal gland. Metaiodobenzylguanidine scan demonstrates focal intense uptake in the pancreatic body. The patient's diagnosis was confirmed with biopsy, and her malignancy responded well to conventional chemotherapy. The case is important in that it demonstrates the unusual imaging appearance of a primary

2015 Radiology Case Reports

135. Clozapine-induced myoclonus: a case report and review of the literature Full Text available with Trip Pro

Clozapine-induced myoclonus: a case report and review of the literature We describe the case of a young man with treatment-resistant schizophrenia, who developed myoclonus during clozapine titration. This subsequently led to a full tonic-clonic seizure. Clozapine treatment can result in a range of seizure-like activity, the most well-known being tonic-clonic seizures. This case highlights the importance of recognizing and treating clozapine-induced myoclonus, as it can herald the onset (...) of a full seizure, even at low serum clozapine levels. We highlight the variety of ways myoclonus can present clinically and suggest treatment options.

2015 Therapeutic Advances in Psychopharmacology

136. A case of alcoholic pellagra encephalopathy presenting with spinal myoclonus Full Text available with Trip Pro

A case of alcoholic pellagra encephalopathy presenting with spinal myoclonus 29595842 2019 02 26 2163-0402 5 6 2015 Dec Neurology. Clinical practice Neurol Clin Pract A case of alcoholic pellagra encephalopathy presenting with spinal myoclonus. 472-474 10.1212/CPJ.0000000000000165 Park Kwiyoung K Department of Neurology and Clinical Research Center, Utano National Hospital, Kyoto, Japan. Oeda Tomoko T Department of Neurology and Clinical Research Center, Utano National Hospital, Kyoto, Japan

2015 Neurology: Clinical Practice

137. Therapeutic Developments for Tics and Myoclonus. (Abstract)

Therapeutic Developments for Tics and Myoclonus. Tics and myoclonus are phenomenologically similar given that both are jerk-like movements, but, in contrast to myoclonus, tics are often preceded by premonitory sensations and are typically associated with a variety of behavioral comorbidities, including attention deficit and obsessive-compulsive disorder. There are many other clinical features that help differentiate these two hyperkinetic disorders. Whereas behavioral and antidopaminergic (...) therapies are most effective in the management of tics, clonazepam, other anticonvulsants, and serotonergic drugs are often used to control myoclonic movements. Botulinum toxin may also be helpful in focal tics and in segmental forms of myoclonus. DBS plays an increasingly important role in the treatment of these disorders, particularly when they are generalized and are disabling despite optimal medical therapy.© 2015 International Parkinson and Movement Disorder Society.

2015 Movement Disorders

138. Ceftazidime-induced myoclonus and encephalopathy in hemodialysis patient Full Text available with Trip Pro

Ceftazidime-induced myoclonus and encephalopathy in hemodialysis patient 25684877 2015 02 16 2018 11 13 0971-4065 25 1 2015 Jan-Feb Indian journal of nephrology Indian J Nephrol Ceftazidime-induced myoclonus and encephalopathy in hemodialysis patient. 61-2 10.4103/0971-4065.144426 Joseph J J Department of Nephrology, SMCSI Medical College, Karakonam, Trivandrum, Kerala. Vimala A A Department of Nephrology, SMCSI Medical College, Karakonam, Trivandrum, Kerala. eng Journal Article India Indian J

2015 Indian Journal of Nephrology

139. Deterioration of palatal myoclonus after acute thalamic hemorrhage Full Text available with Trip Pro

Deterioration of palatal myoclonus after acute thalamic hemorrhage Palatal myoclonus (PM) is the hallmark of hypertrophic olivary degeneration (HOD); however, little is known regarding the association of thalamic lesions and PM. Case presentation: Here, we report a case of deteriorative PM after an acute small ventrolateral thalamic hemorrhage in a female Chinese patient with HOD. The sudden and severe deterioration of PM was preceded by at least 10 days of an occasionally occurring PM, which

2015 Translational neuroscience

140. Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus

Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies (...) before adding more. Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02518789 Recruitment Status : Unknown Verified August 2015 by Tang-Du Hospital. Recruitment status was: Not yet recruiting First Posted : August

2015 Clinical Trials

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