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Juvenile myoclonic epilepsy

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
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
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
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...
October 10, 2016: Neuropsychology Review
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
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
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
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
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
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
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
Le Wang, Zhao Jiang, Bei-Bei Chen, Cheng-Tai Wang, Jin-Xiang Wang, Jie Bai, Bi Wang, Lang Jin, Wen-Juan Zhang, Yan-Chun Deng, Gang Zhao, Jing-Xia Dang, Dong Wang, Shan-Shan Jia, Tian-Cheng Wang, Fei-Yong Jia, Li Zhang, Yong-Hong Liu
OBJECTIVE: The objective of this study was to assess the electroclinical aspects and treatment of Han patients with juvenile myoclonic epilepsy (JME) in northern China. METHODS: One hundred fifty-six outpatients with JME from six epilepsy centers, between January 2011 and June 2012, were followed up for at least two years. They underwent twenty-four-hour video-EEG recording. Brain imaging was performed using magnetic resonance imaging (MRI). Clinical aspects, electroencephalographic (EEG) features, and antiepileptic drugs (AEDs) received were reviewed...
September 2016: Epilepsy & Behavior: E&B
Burcu Ekmekci, Hacı Taner Bulut, Funda Gümüştaş, Adem Yıldırım, Ali Kuştepe
Diffusion tensor imaging (DTI) has revealed evidence of subcortical white matter abnormalities in the frontal area in juvenile myoclonic epilepsy (JME). Decreased fractional anisotropy (FA) and increased mean diffusivity (MD) in the corticothalamic pathway have been detected in adult patients with JME. It has been demonstrated that, in adult patients with JME, frontal dysfunction is related to subcortical white matter damage and decreased volume in frontal cortical gray matter and the thalamus. Many studies have focused on adult patients...
September 2016: Epilepsy & Behavior: E&B
Julia N Bailey, Christopher Patterson, Laurence de Nijs, Reyna M Durón, Viet-Huong Nguyen, Miyabi Tanaka, Marco T Medina, Aurelio Jara-Prado, Iris E Martínez-Juárez, Adriana Ochoa, Yolli Molina, Toshimitsu Suzuki, María E Alonso, Jenny E Wight, Yu-Chen Lin, Laura Guilhoto, Elza Marcia Targas Yacubian, Jesús Machado-Salas, Andrea Daga, Kazuhiro Yamakawa, Thierry M Grisar, Bernard Lakaye, Antonio V Delgado-Escueta
PURPOSE: EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME). We reanalyzed 54 EFHC1 variants associated with epilepsy from 17 cohorts based on National Human Genome Research Institute (NHGRI) and American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of sequence variants. METHODS: We calculated Bayesian LOD scores for variants in coinheritance, unconditional exact tests and odds ratios (OR) in case-control associations, allele frequencies in genome databases, and predictions for conservation/pathogenicity...
July 28, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jacint Sala-Padró, Manuel Toledo, Estevo Santamarina, Montserrat González-Cuevas, Miquel Raspall-Chaure, Maria Sueiras-Gil, Manolo Quintana, Xavier Salas-Puig
BACKGROUND: Valproic acid (VPA) is an effective treatment in juvenile myoclonic epilepsy (JME), but concerns on its use during pregnancy are remarkable. Levetiracetam (LEV) is approved as second-line therapy, and used as monotherapy in clinical practice. Our objective was to analyze the outcome of LEV and VPA in JME. MATERIALS AND METHODS: We analyzed patients with JME attending our epilepsy unit between 2010 and 2014, including all patients treated with LEV and/or VPA at some point of the disease course...
July 19, 2016: Clinical Neuropharmacology
Raffaele Manni, Roberto De Icco, Riccardo Cremascoli, Giulia Ferrera, Francesca Furia, Elena Zambrelli, Maria Paola Canevini, Michele Terzaghi
OBJECTIVE/BACKGROUND: It has been debated in the literature whether patients with idiopathic generalized epilepsy (IGE) have a distinctive, evening-oriented chronotype. The few questionnaire-based studies that are available in the literature have conflicting results. The aim of our study was to define chronotype in patients with IGE by determining dim light melatonin onset (DLMO). PATIENTS/METHODS: Twenty adults diagnosed with IGE (grand mal on awakening [GM] in 7 cases and juvenile myoclonic epilepsy in 13 cases) were investigated by means of a face-to-face semistructured sleep interview, Morningness-Eveningness Questionnaire (MEQ), Pittsburgh Sleep Quality Index (PSQI) questionnaire, and a melatonin salivary test with DLMO determination...
August 2016: Epilepsy & Behavior: E&B
Kelly Cristina de Carvalho, Carina Gonçalves Pedroso Uchida, Mirian Salvadori Bittar Guaranha, Laura Maria F F Guilhoto, Peter Wolf, Elza Márcia Targas Yacubian
PURPOSE: Juvenile myoclonic epilepsy (JME) is a heterogeneous syndrome in which seizures can be precipitated not only by non-specific factors, such as sleep deprivation and stress, but also by specific stimuli, such as photic stimuli, eye-closure, praxis, and language. The presence of these reflex traits may indicate the hyperexcitability of different cortical areas, which may be reflected in patients' neuropsychological deficit profile. The objective of our study is to investigate the possible relations between JME endophenotypes and patients' cognitive performance...
August 2016: Seizure: the Journal of the British Epilepsy Association
Laura E Hernández-Vanegas, Aurelio Jara-Prado, Adriana Ochoa, Nayelli Rodríguez Y Rodríguez, Reyna M Durón, Daniel Crail-Meléndez, Ma Elisa Alonso, Antonio V Delgado-Escueta, Iris E Martínez-Juárez
Juvenile myoclonic epilepsy (JME) is a genetic generalized epilepsy accounting for 3-12% of adult cases of epilepsy. Valproate has proven to be the first-choice drug in JME for controlling the most common seizure types: myoclonic, absence, and generalized tonic-clonic (GTC). In this retrospective study, we analyzed seizure outcome in patients with JME using valproate monotherapy for a minimum period of one year. Low valproate dose was considered to be 1000mg/day or lower, while serum levels were considered to be low if they were at or below 50mcg/dl...
August 2016: Epilepsy & Behavior: E&B
Marcos Vidal-Dourado, Karlo Faria Nunes, Mirian Salvadori Bittar Guaranha, Lydia Maria Pereira Giuliano, Elza Márcia Targas Yacubian, Gilberto Mastrocola Manzano
OBJECTIVE: This study aimed to evaluate the effects of praxis induction on sensorimotor cortical and transcallosal excitability in juvenile myoclonic epilepsy (JME). METHODS: A total of 36 subjects (18-62years) were included. The JME group was screened by video-electroencephalography neuropsychological protocol and divided into JME without praxis induction [JME-WI (n=12)], JME with praxis-induced seizures or epileptiform discharges [JME-PI (n=10)], and healthy controls (n=14)...
July 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
C Ákos Szabó, Felipe S Salinas
The epileptic baboon represents a natural model for genetic generalized epilepsy (GGE), closely resembling juvenile myoclonic epilepsy (JME). Due to functional neuroimaging and pathological differences between epileptic (SZ+) and asymptomatic control (CTL) baboons, we expected structural differences in gray matter concentration (GMC) using voxel-based morphometry (VBM). Standard anatomical (MP-RAGE) MRI scans using a 3T Siemens TIM Trio (Siemens, Erlangen, Germany) were available in 107 baboons (67 females; mean age 16±6years) with documented clinical histories and scalp-electroencephalography (EEG) results...
August 2016: Epilepsy Research
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