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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/28074997/-classification-of-idiopathic-generalised-epilepsies-in-patients-over-16-years-of-age
#1
J Sala-Padro, M Toledo, E Santamarina, M Gonzalez-Cuevas, M Raspall-Chaure, M Sueiras-Gil, M Quintana, J Salas-Puig
INTRODUCTION: Idiopathic generalised epilepsies (IGE) are a set of electroclinical syndromes with different phenotypes. Our aim is to analyse those phenotypes in patients over 16 years of age. PATIENTS AND METHODS: We conducted a retrospective analysis of a series of patients with IGE. They were classified as childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), epilepsy with tonic-clonic seizures only (TCSE), epilepsy with eyelid myoclonias and absences (EMA) and pure photogenic epilepsy (PE)...
January 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28060866/patterns-of-gray-matter-abnormalities-in-idiopathic-generalized-epilepsy-a-meta-analysis-of-voxel-based-morphology-studies
#2
Guo Bin, Tianfu Wang, Hongwu Zeng, Xiaoming He, Feng Li, Jian Zhang, Bingsheng Huang
OBJECTIVE: We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. METHODS: A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted...
2017: PloS One
https://www.readbyqxmd.com/read/28025856/exploring-psychiatric-comorbidities-and-their-effects-on-quality-of-life-in-patients-with-temporal-lobe-epilepsy-and-juvenile-myoclonic-epilepsy
#3
Devrimsel Harika Ertem, Ayten Ceyhan Dirican, Agah Aydın, Sevim Baybas, Vedat Sözmen, Musa Ozturk, Yavuz Altunkaynak
AIM: The relation of epilepsy with psychiatric disorders is of great interest to researchers due to its behavioral, social and cognitive outcomes. In this study, we explored psychiatric comorbidity and its effects on quality of life in patients with mesial temporal lobe epilepsy (MTLE) and juvenile myoclonic epilepsy (JME). METHOD: Thirthy patients with MTLE, 30 patients with JME and 30 healthy controls were administered structured clinical interview for DSM-IV (SCID-I) to diagnose psychiatric disorders...
December 27, 2016: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28012415/comparing-sleep-profiles-between-patients-with-juvenile-myoclonic-epilepsy-and-symptomatic-partial-epilepsy-sleep-questionnaire-based-study
#4
Nashi Saraswati, Chetan Nayak, Sanjib Sinha, Madhu Nagappa, Kandavel Thennarasu, Arun B Taly
OBJECTIVES: Patients with epilepsy commonly report excessive daytime sleepiness and daytime fatigue, which may be attributed to the direct effect of seizures, a side effect of antiepileptic drugs or a combination of the two. The aim of the study was to compare sleep profiles in patients with juvenile myoclonic epilepsy (JME) and symptomatic partial epilepsy (PE) in drug naïve and treated patients using standardized sleep questionnaires. METHODS: Three study groups: - 1) juvenile myoclonic epilepsy (N=40) [drug naïve (N=20); On sodium valproate (SVA) (N=20)]; 2) symptomatic partial epilepsy (N=40) [drug naïve (N=20); On carbamazepine (CBZ) (N=20)]; 3) healthy controls (N=40) completed 3 standardized sleep questionnaires - Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, and NIMHANS Comprehensive Sleep Disorders Questionnaire...
December 21, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27965623/transcranial-alternating-current-stimulation-a-potential-risk-for-genetic-generalized-epilepsy-patients-study-case
#5
Daniel San-Juan, Carlos Ignacio Sarmiento, Axel Hernandez-Ruiz, Ernesto Elizondo-Zepeda, Gabriel Santos-Vázquez, Gerardo Reyes-Acevedo, Héctor Zúñiga-Gazcón, Carol Marina Zamora-Jarquín
Transcranial alternating current stimulation (tACS) is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to 3 antiepileptic's drugs characterized by 4 myoclonic and 20 absence seizures monthly. She received tACS at 1 mA at 3 Hz pulse train during 60 min over Fp1-Fp2 (10-20 EEG international system position) during 4 consecutive days using an Endeavor™ IOM Systems device(®) (Natus Medical Incorporated, Middleton, WI, USA)...
2016: Frontiers in Neurology
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
#6
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
#7
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
#8
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...
January 2017: 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
#9
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...
January 2017: 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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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...
January 2017: 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
#16
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
#17
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
#18
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
#19
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
#20
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
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