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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#1
Shu-Zhi Wu, Hua Ye, Xiao-Guo Yang, Zhi-Li Lu, Qiang Qu, Jian Qu
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant)...
October 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29031745/sleep-architecture-in-patients-with-juvenile-myoclonic-epilepsy
#2
Jaidaa F Mekky, Sonia M Elbhrawy, Mohamed F Boraey, Horeya M Omar
AIM: The aim is to analyze the sleep architecture using polysomnography (PSG) in patients with Juvenile Myoclonic Epilepsy (JME): (newly diagnosed and those on valproate drug) attending epilepsy clinic at Alexandria University Hospitals. METHODS: This study involved 20 patients with JME on valproate (age: 22.40 ± 5.80 years; M:F = 6:14), 20 newly diagnosed patients (age: 18.55 ± 6.0 years; M:F = 6:14), and 20 matched healthy controls (age: 22.10 ± 5...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28927715/microstructural-white-matter-changes-and-their-relation-to-neuropsychological-deficits-in-patients-with-juvenile-myoclonic-epilepsy
#3
Susanne Knake, Christine Roth, Marcus Belke, Jens Sonntag, Tobias Kniess, Soeren Krach, Andreas Jansen, Jens Sommer, Frieder M Paulus, Barbara Carl, Felix Rosenow, Anke M Hermsen, Katja Menzler
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI)...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28904460/juvenile-myoclonic-epilepsy-with-frontal-executive-dysfunction-is-associated-with-reduced-gray-matter-volume-by-voxel-based-morphometry
#4
Sreeja H Pillai, Sheelakumari Raghavan, Mrudula Mathew, Geetha M Gopalan, Chandrasekharan Kesavadas, Sankara Sarma, Sanjeev V Thomas
OBJECTIVE: Frontal executive dysfunction (FED) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile myoclonic epilepsy (JME). We aimed to compare JME patients with and without FED by group analysis of voxel-based morphometric (VBM) estimates of brain volume in MRI. SUBJECTS AND METHODS: We studied frontal executive functions in patients with JME and analyzed the possible association of FED with their demographic, clinical, and electrographic characteristics...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#5
MULTICENTER STUDY
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28830309/aberrant-thalamocortical-connectivity-in-juvenile-myoclonic-epilepsy
#6
S Jiang, C Luo, J Gong, R Peng, S Ma, S Tan, G Ye, L Dong, D Yao
The purpose of this study was to investigate the functional connectivity (FC) of thalamic subdivisions in patients with juvenile myoclonic epilepsy (JME). Resting state functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) data were acquired from 22 JME and 25 healthy controls. We first divided the thalamus into eight subdivisions by performing independent component analysis on tracking fibers and clustering thalamus-related FC maps. We then analyzed abnormal FC in each subdivision in JME compared with healthy controls, and we investigated their associations with clinical features...
June 13, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/28822307/efficacy-of-a-third-or-later-antiepileptic-drug-regimen-according-to-epilepsy-syndrome-among-adult-patients
#7
Go Ito, Akihisa Okumura, Kousuke Kanemoto
OBJECTIVE: To evaluate the efficacy of third or later antiepileptic drug (AED) regimens in adult patients with epilepsy according to epilepsy syndrome. METHODS: The time courses of AEDs and their efficacy were evaluated in 449 adults with temporal lobe epilepsy (TLE, n=153), juvenile myoclonic epilepsy (JME, n=33), or extratemporal focal epilepsy (FE, n=263) based mainly on clinical symptoms and EEG findings. Any change in AEDs after their initiation demarcated the end of one regimen, whereas changes in dose did not...
October 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28758580/chromosomal-micro-aberration-in-a-saudi-family-with-juvenile-myoclonic-epilepsy
#8
Muhammad Imran Naseer, Adeel G Chaudhary, Sameera Sogaty, Mahmood Rasool, Sajjad Karim, Hans-Juergen Schulten, Fehmida Bibi, Peter Natesan Pushparaj, Hussein A Algahtani, Mohammad H Al-Qahtani
Epilepsy is genetically complex neurological disorder affecting millions of people of the world. Juvenile myoclonic epilepsy (JME) is a most common epilepsy syndromes that starts in the teen age group commonly between ages 12 and 18, and lasts into adulthood. Out of 14 people with epilepsy one suffer with JME. Myoclonic seizures and muscle twitching or uncontrolled jerking are the most common type of seizure in the people suffering with JME. To observe the novel CNVs involved in JME we investigated a Saudi family with nine siblings with one male and one female affected members...
July 31, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28704743/sleep-abnormalities-in-juvenile-myoclonic-epilepsy-a-sleep-questionnaire-and-polysomnography-based-study
#9
Sujata Roshan, Vinod Puri, Neera Chaudhry, Anu Gupta, Sumit Kumar Rabi
PURPOSE: To evaluate the quality of sleep, its architecture and occurrence of epileptiform discharges with their distribution across various stages of sleep in patients of Juvenile myoclonic epilepsy (JME), both drug naïve as well as those already on treatment. METHODS: 99 patients of JME [36 drug naïve, 63 on antiepileptic drug(s) (AED)], and 30 healthy controls were recruited. Sleep quality and daytime sleepiness were evaluated with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS), respectively...
June 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#10
REVIEW
Bruna Priscila Dos Santos, Chiara Rachel Maciel Marinho, Thalita Ewellyn Batista Sales Marques, Layanne Kelly Gomes Angelo, Maísa Vieira da Silva Malta, Marcelo Duzzioni, Olagide Wagner de Castro, João Pereira Leite, Fabiano Timbó Barbosa, Daniel Leite Góes Gitaí
BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality...
2017: PloS One
https://www.readbyqxmd.com/read/28549335/microstructural-alterations-of-white-matter-in-juvenile-myoclonic-epilepsy
#11
Jinnan Gong, Xuebin Chang, Sisi Jiang, Benjamin Klugah-Brown, Song Tan, Dezhong Yao, Cheng Luo
Juvenile myoclonic epilepsy (JME) is a common type of idiopathic generalized epilepsy that is characterized by myoclonic jerks of the upper limbs and generalized tonic-clonic seizures. Frontal cognitive dysfunctions and abnormal coupling of the thalamocortical system have been found in neuropsychological and neuroimaging studies. This study intended to explore white matter (WM) measurement changes in JME using MRI. Twenty-six patients with JME and 25 healthy controls (HC) were recruited for the acquisition of diffusion MRI and structural MRI data...
April 4, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#12
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
July 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28532712/photosensitivity-and-epilepsy-current-concepts-and-perspectives-a-narrative-review
#13
REVIEW
A Martins da Silva, Bárbara Leal
The authors review the influence of photic stimuli on the generation of epileptic seizures, addressing the first descriptions of the phenomenon and its subsequent exploration. Initially defined in the 1950's, links between intermittent photic stimulation (IPS) and seizures were well understood by the 1970. Since then the increasing exposure to photic stimuli associated with modern life (for instance through TVs, patterns, computer games and electronic instruments with flickering displays) has led to an increased interest in this issue...
April 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28527369/prolonged-epileptiform-eeg-runs-are-associated-with-persistent-seizures-in-juvenile-myoclonic-epilepsy
#14
Vibeke Arntsen, Trond Sand, Marte R Syvertsen, Eylert Brodtkorb
OBJECTIVE: In juvenile myoclonic epilepsy (JME), various EEG characteristics have been suggested as poor prognostic signs, but their significance is unclear. The aim of this study was to assess the influence of EEG variables on seizure and psychosocial outcome after a follow-up exceeding 20 years. METHODS: 396 EEG recordings were available for assessment in 40 patients (42 complete digital, 330 paper segments and 24 written reports only). Mean follow-up was 31 years (range 20-68)...
May 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28464258/long-term-outcome-in-adolescent-onset-generalized-genetic-epilepsies
#15
Bernd J Vorderwülbecke, Alexander B Kowski, Andrea Kirschbaum, Hannah Merkle, Philine Senf, Dieter Janz, Martin Holtkamp
OBJECTIVE: Until now, it has been unclear if the three subsyndromes of adolescent-onset generalized genetic epilepsy (GGE) differ in long-term prognosis. Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). METHODS: This retrospective study is based on the archive of an institutional tertiary care outpatient clinic for adult patients with epilepsy...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28434203/topiramate-monotherapy-for-juvenile-myoclonic-epilepsy
#16
REVIEW
Jia Liu, Lu-Ning Wang, Yu-Ping Wang
BACKGROUND: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate monotherapy in people with JME. This is an updated version of the original Cochrane Review published in Issue 12, 2015. OBJECTIVES: To evaluate the efficacy and tolerability of topiramate monotherapy in the treatment of JME...
April 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28431366/efficacy-and-safety-of-a-video-eeg-protocol-for-genetic-generalized-epilepsies
#17
Luciana Rodrigues De Marchi, Jeana Torres Corso, Ana Carolina Zetehaku, Carina Gonçalves Pedroso Uchida, Mirian Salvadori Bittar Guaranha, Elza Márcia Targas Yacubian
INTRODUCTION: Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. The aim of this study was to analyze the efficacy and safety of a video-EEG neuropsychological protocol (VNPP) tailored for GGE and compare its value with that of routine EEG (R-EEG)...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28391029/decrease-of-global-current-source-density-predicts-successful-treatment-in-absence-and-juvenile-myoclonic-epilepsies
#18
Johanna Dömötör, Béla Clemens, Szilvia Puskás, István Fekete
OBJECTIVE: To investigate relationship between treatment efficiency and EEG background activity changes in absence epilepsy (AE) and juvenile myoclonic epilepsy (JME) patients. PATIENTS AND METHODS: EEGs of 31 patients were analysed before treatment and after six months of treatment. Three minutes of artifact-free waking EEG background activity (without epileptiform potentials) were analysed for each patient in both conditions. All the EEG samples were processed to LORETA (Low Resolution Electromagnetic Tomography)...
April 2, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28373807/autosomal-dominant-cortical-tremor-myoclonus-and-epilepsy-syndrome-mimicking-juvenile-myoclonic-epilepsy
#19
Zeynep Aydin Özemir, Emel Oğuz Akarsu, Zeliha Matur, Ali Emre Öge, Betül Baykan
INTRODUCTION: Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myoclonic epilepsy (JME). METHODS: Three siblings (two females and one male) diagnosed with ADCME were analyzed by electroencephalogram (EEG), somatosensory evoked potentials, and accelerometric recordings...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28373803/evaluation-of-glutamic-acid-decarboxylase-antibody-levels-in-patients-with-juvenile-myoclonic-epilepsy-and-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#20
Ayten Ceyhan Dirican, Sevilay Elibirlik, Ayhan Köksal, Musa Öztürk, Yavuz Altunkaynak, Sevim Baybaş, Ahmet Dirican
INTRODUCTION: Several clinical studies have been conducted to investigate the role of autoantibodies and immunological mechanisms in the etiology of treatment-resistant epilepsy in recent years. Some immunological treatments have been suggested as a result of these studies. In this study, we aimed to investigate the role of autoimmunity in partial and idiopathic generalized epilepsy and determine the relationship between drug resistance and autoimmune antibodies. METHODS: Twenty-eight patients (24 treatment-responsive and 4 treatment-resistant) with juvenile myoclonic epilepsy (JME), 26 patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS) resistant to antiepileptic drug treatment, and 26 age-matched healthy control subjects were included in a two-year cross sectional study...
September 2016: Noro Psikiyatri Arsivi
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