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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/27923174/generalized-epilepsy-syndromes-and-callosal-thickness-differential-effects-between-patients-with-juvenile-myoclonic-epilepsy-and-those-with-generalized-tonic-clonic-seizures-alone
#1
Stavroula Anastasopoulou, Florian Kurth, Eileen Luders, Ivanka Savic
PURPOSE: The definition of two well-studied genetic generalized epilepsy syndromes (GGE) - juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) - suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum...
November 18, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27918962/source-localization-of-epileptiform-discharges-in-juvenile-myoclonic-epilepsy-jme-using-magnetoencephalography-meg
#2
Veeranna Gadad, Sanjib Sinha, Narayanan Mariyappa, Ganne Chaithanya, Velmurugan Jayabal, Jitender Saini, Kandivel Thennarasu, Parthasarathy Satishchandra
OBJECTIVE: The purpose of this study is to localize the sources of epileptiform discharges (EDs), in juvenile myoclonic epilepsy (JME) using Magnetoencephalography (MEG), at three different time instances and analyze the propagation of EDs, from onset to offset, for inferring the cortical and subcortical region of involvement. METHODS: Twenty patients (age 23.5±6.3years old) with JME were recruited in this prospective study. MEG source analysis was performed on the independently collected EDs of each patient...
November 29, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27912171/the-topographical-distribution-of-epileptic-spikes-in-juvenile-myoclonic-epilepsy-with-and-without-photosensitivity
#3
P R Bauer, K Gorgels, W Spetgens, N E C van Klink, F S S Leijten, J W Sander, G H Visser, M Zijlmans
OBJECTIVE: Up to 30% of people with juvenile myoclonic epilepsy (JME) have photoparoxysmal responses (PPR). Recent studies report on structural and pathophysiological differences between people with JME with (JME+PPR) and without PPR (JME-PPR). We investigated whether electrophysiological features outside photic stimulation differ between these subtypes. METHODS: We analysed EEG recordings of people with JME at a tertiary epilepsy centre and an academic hospital...
November 14, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#4
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27843503/review-cav2-3-r-type-voltage-gated-ca-2-channels-functional-implications-in-convulsive-and-non-convulsive-seizure-activity
#5
Carola Wormuth, Andreas Lundt, Christina Henseler, Ralf Müller, Karl Broich, Anna Papazoglou, Marco Weiergräber
BACKGROUND: Researchers have gained substantial insight into mechanisms of synaptic transmission, hyperexcitability, excitotoxicity and neurodegeneration within the last decades. Voltage-gated Ca(2+) channels are of central relevance in these processes. In particular, they are key elements in the etiopathogenesis of numerous seizure types and epilepsies. Earlier studies predominantly targeted on Cav2.1 P/Q-type and Cav3.2 T-type Ca(2+) channels relevant for absence epileptogenesis. Recent findings bring other channels entities more into focus such as the Cav2...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27835783/analysis-of-the-tremor-in-juvenile-myoclonic-epilepsy
#6
Zeynep Aydin-Özemir, Zeliha Matur, Betul Baykan, Başar Bilgic, Pınar Tekturk, Nerses Bebek, Candan Gurses, Hasmet Hanagasi, Ali Emre Oge
PURPOSE: We aimed to investigate juvenile myoclonic epilepsy (JME) patients complaining of tremor unrelated to valproate (VPA) treatment and evaluate if there were differences between JME patients with and without tremor and essential tremor (ET) patients to exclude comorbidity. METHODS: Fifteen JME cases with the complaint of tremor, 14 JME patients without tremor, 14 patients with ET and 14 healthy subjects (HS) were included. Regularity, frequency and amplitude of the tremor and superimposed myoclonia were assessed by accelerometric analysis...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27818795/juvenile-myoclonic-epilepsy-in-rural-western-india-not-yet-a-benign-syndrome
#7
Devangi Desai, Soaham Desai, Trilok Jani
Purpose. To study prevalence of uncontrolled seizures in patients with juvenile myoclonic epilepsy [JME] and assess factors responsible for it. Methods. An ambispective study of all patients with JME attending our epilepsy clinic was done. We recruited all patients with JME evaluated between 1 January 2009 and 31 December 2013 and followed them up to 31 December 2015. Results. Amongst 876 patients with epilepsy, JME was present in 73 patients. Amongst them, 53 [72.6%] had uncontrolled seizures prior to neurology consultation...
2016: Epilepsy Research and Treatment
https://www.readbyqxmd.com/read/27810518/social-cognition-in-juvenile-myoclonic-epilepsy
#8
Filippo S Giorgi, Melania Guida, Lorenzo Caciagli, Cristina Pagni, Chiara Pizzanelli, Enrica Bonanni, Gloria Tognoni, Ubaldo Bonuccelli
OBJECTIVE: Juvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27781034/generalized-epilepsy-and-myoclonic-seizures-in-22q11-2-deletion-syndrome
#9
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27765558/juvenile-myoclonic-epilepsy-may-be-a-disorder-of-cortex-rather-than-thalamus-an-effective-connectivity-analysis
#10
Kang Min Park, Byung In Lee, Kyong Jin Shin, Sam Yeol Ha, JinSe Park, Si Eun Kim, Hyung Chan Kim, Tae Hyung Kim, Chi Woong Mun, Sung Eun Kim
Although juvenile myoclonic epilepsy has been considered as a disorder of thalamo-cortical circuit, it is not determined the causality relationship between thalamus and cortex. The aim of this study was to evaluate whether juvenile myoclonic epilepsy is a disorder of thalamus or cortex. Twenty-nine patients with juvenile myoclonic epilepsy and 20 normal controls were enrolled in this study. In addition, we included 10 patients with childhood absence epilepsy as a disease control group. Using whole-brain T1-weighted MRIs, we analyzed the volumes of the structures, including hippocampus, thalamus, and total cortex, with FreeSurfer 5...
October 17, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27763964/can-eeg-differentiate-among-syndromes-in-genetic-generalized-epilepsy
#11
Udaya Seneviratne, Graham Hepworth, Mark Cook, Wendyl D'Souza
PURPOSE: To evaluate electroencephalographic (EEG) differences among syndromes in genetic generalized epilepsy (GGE) based on quantified data. METHODS: 24-hour ambulatory EEGs were recorded in consecutive patients diagnosed with GGE. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). We conducted one-way analysis of variance (ANOVA) to find out differences in EEG density scores among the syndromes...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27736659/status-epilepticus-in-patients-with-juvenile-myoclonic-epilepsy-frequency-precipitating-factors-and-outcome
#12
Emel Oğuz-Akarsu, Zeynep Aydin-Özemir, Nerses Bebek, Candan Gürses, Ayşen Gökyiğit, Betül Baykan
Status epilepticus (SE) is rarely described in patients with juvenile myoclonic epilepsy (JME), and little is known about its frequency, subtypes, and predictors and the prognosis of these patients. In this retrospective study, we aimed to analyze the incidence of SE in patients with JME and emphasize the risk factors and long-term outcome of SE in an epilepsy outpatient-based cohort. We included patients with JME with a history of predominant myoclonic seizures and at least one diagnostic EEG with normal background activity and bursts of typical ≥3-Hz generalized spike-polyspike and waves...
October 10, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27726043/a-systematic-review-of-psychiatric-and-psychosocial-comorbidities-of-genetic-generalised-epilepsies-gge
#13
REVIEW
A Loughman, N A Bendrups, W J D'Souza
Psychiatric disorders and associated poor psychosocial outcomes are recognised to be a common sequelae of epilepsy. The extent to which this is true of genetic generalised epilepsies (GGE), particularly syndromes other than juvenile myoclonic epilepsy (JME) is unclear. This systematic review synthesises findings regarding psychiatric and associated comorbidities in adults and children with GGE. Systematic review yielded 34 peer-reviewed studies of psychiatric and psychosocial outcomes in adults and children with GGE...
December 2016: Neuropsychology Review
https://www.readbyqxmd.com/read/27720572/stopping-epilepsy-treatment-in-seizure-remission-good-or-bad-or-both
#14
Dieter Schmidt, Matti Sillanpää
PURPOSE: To review the outcome of epilepsy after stopping antiepileptic drugs in remission. RESULTS: Stopping antiepileptic drugs (AEDs) in remission is routinely done in many patients. Although the consequences of an unexpected relapse seizure in the 2 years after stopping AEDs may cause anguish and social issues, the impact on the long term seizure outlook of the epilepsy is minimal, if any. Discontinuation of drug treatment does not seem to affect the long-term prognosis but exposes patients who were seizure-free for years to a transient two-fold risk of seizures for the first 2 years after stopping AEDs...
September 13, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27665373/juvenile-myoclonic-epilepsy-challenges-on-its-60th-anniversary
#15
Elza Márcia Yacubian
PURPOSE: Since its initial 1957 description, juvenile myoclonic epilepsy (JME) has been recognized as a common epileptic syndrome worldwide. METHODS: We reviewed a series of articles on JME to clarify challenges in clinical and pathophysiological findings, treatment and outcome. RESULTS: Typical JME characteristics include: 1) the age at seizure onset between 10 and 25 years; 2) the triad of myoclonia, generalized tonic-clonic seizures, and absences, of which only myoclonia is a mandatory criterion; 3) cognitive dysfunction that may have impact on interpersonal relationships and social outcome; 4) possibility of seizure control in up to 80% of individuals, in particular with the use of sodium valproate; 5) a tendency for lifelong seizures with an early morning preponderance; 6) after decades from the clinical onset, a possibility to be off medications for a third of the patients, and 7) several prognostic factors...
September 15, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27638923/sudden-neurologic-death-masquerading-as-out-of-hospital-sudden-cardiac-death
#16
Anthony S Kim, Ellen Moffatt, Philip C Ursell, Orrin Devinsky, Jeffrey Olgin, Zian H Tseng
OBJECTIVE: To characterize the frequency of and risk factors for out-of-hospital sudden neurologic deaths. METHODS: During the initial 25 months (February 1, 2011-March 1, 2013) of the San Francisco Postmortem Systematic Investigation of Sudden Cardiac Death Study, we captured incident WHO criteria sudden cardiac deaths (SCDs) through active surveillance of consecutive out-of-hospital deaths, which must be reported to the medical examiner by law. All cases were referred for full autopsy with detailed examination of the heart and cranial vault, toxicology, and histology...
October 18, 2016: Neurology
https://www.readbyqxmd.com/read/27592844/heterogeneity-of-anatomic-regions-by-mr-volumetry-in-juvenile-myoclonic-epilepsy
#17
B E Swartz, J Spitz, A L Vu, M Mandelkern, M L Su
OBJECTIVE: To investigate brain volumes in patients with well-characterized juvenile myoclonic epilepsy (JME). MATERIALS AND METHODS: We studied the MRI images of seventeen subjects with EEG and clinically defined JME and seventeen age- and sex-matched controls using voxel-based morphometry (VBM) and automated and manual volumetry. RESULTS: We found no significant group differences in the cortical volumes by automated techniques for all regions or for the whole brain...
October 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/27573707/dynamics-of-sensorimotor-cortex-activation-during-absence-and-myoclonic-seizures-in-a-mouse-model-of-juvenile-myoclonic-epilepsy
#18
Li Ding, Martin J Gallagher
OBJECTIVE: Generalized epilepsy syndromes often confer multiple types of seizures, but it is not known if these seizures activate separate or overlapping brain networks. Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absence and myoclonic generalized seizures. Here, we determined the time course of sensorimotor cortex activation and the spatial distribution of spike voltage during these two seizures. METHODS: We implanted Gabra1(+/A322D) mice with multiple electroencephalography (EEG) electrodes over bilateral somatosensory cortex barrel fields (S1) and anterior (aM1) and posterior (pM1) motor cortices and recorded absence seizures/spike-wave discharges (SWDs) and myoclonic seizures...
October 2016: Epilepsia
https://www.readbyqxmd.com/read/27521721/is-there-a-creative-functional-paradoxical-facilitation-in-juvenile-myoclonic-epilepsy
#19
Philine Senf, Lena Scheuren, Martin Holtkamp
OBJECTIVE: In patients with juvenile myoclonic epilepsy (JME), a specific personality profile suggestive of frontal lobe dysfunctions has been described. From a neurobiological point of view, the frontal lobe seems to be crucial for creative processes, although the exact role remains unclear. The theory of creative paradoxical functional facilitation (PFF) assumes that disinhibited frontal lobe function can enhance creative abilities. The aim of the current study was to explore our hypothesis that JME is associated with higher artistic creativity based on the theory of PFF...
September 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27521439/phenotypic-spectrum-of-gabra1-from-generalized-epilepsies-to-severe-epileptic-encephalopathies
#20
Katrine Johannesen, Carla Marini, Siona Pfeffer, Rikke S Møller, Thomas Dorn, Christina Niturad, Elena Gardella, Yvonne Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H G Larsen, Hans A Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl M Klein, Philipp S Reif, Felix Rosenow, Abdallah F Elias, Cindy Hudson, Katherine L Helbig, Susanne Schubert-Bast, Maria R Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman-Zacharska, Hande Caglayan, Ingo Helbig, Jose Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R Lemke, Guido Rubboli, Snezana Maljevic
OBJECTIVE: To delineate phenotypic heterogeneity, we describe the clinical features of a cohort of patients with GABRA1 gene mutations. METHODS: Patients with GABRA1 mutations were ascertained through an international collaboration. Clinical, EEG, and genetic data were collected. Functional analysis of 4 selected mutations was performed using the Xenopus laevis oocyte expression system. RESULTS: The study included 16 novel probands and 3 additional family members with a disease-causing mutation in the GABRA1 gene...
September 13, 2016: Neurology
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