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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28434203/topiramate-monotherapy-for-juvenile-myoclonic-epilepsy
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28370826/microtubule-associated-defects-caused-by-efhc1-mutations-in-juvenile-myoclonic-epilepsy
#12
Praveen K Raju, Parthasarathy Satishchandra, Sourav Nayak, Vishwanathan Iyer, Sanjib Sinha, Anuranjan Anand
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining expression of the JME phenotype among individuals carrying EFHC1 mutations. Here, we report on our studies on EFHC1 in JME patients from India. We examined the complete structure of the EFHC1 transcript from 480 JME patients and 700 control chromosomes by direct sequencing...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28341336/valproic-acid-malabsorption-in-30-year-old-female-patient-case-study
#13
Anna Jopowicz, Agnieszka Piechal, Iwona Kurkowska-Jastrzębska
AIM: Valproic acid (VPA) is used in epilepsy treatment and as a stabilizer in bipolar affective disorder for over 40 years. Although, the pharmacokinetic properties of valproic acid are well known, it is often forgotten that the formulation of the drug significantly influences its gastrointestinal absorption. CASE: We are describing the case of 30 year-old female patient, diagnosed at the age of 13 with juvenile myoclonic epilepsy. Complete ineffectiveness of the treatment was caused by malabsorption of sodium valproate and valproic acid in the patient...
March 12, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#14
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
April 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28239547/unmasking-of-myoclonus-by-lacosamide-in-generalized-epilepsy
#15
Daniel Birnbaum, Mohamad Koubeissi
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...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28223533/generalized-myoclonic-epilepsy-with-photosensitivity-in-juvenile-dogs-caused-by-a-defective-diras-family-gtpase-1
#16
Franziska Wielaender, Riika Sarviaho, Fiona James, Marjo K Hytönen, Miguel A Cortez, Gerhard Kluger, Lotta L E Koskinen, Meharji Arumilli, Marion Kornberg, Andrea Bathen-Noethen, Andrea Tipold, Kai Rentmeister, Sofie F M Bhatti, Velia Hülsmeyer, Irene C Boettcher, Carina Tästensen, Thomas Flegel, Elisabeth Dietschi, Tosso Leeb, Kaspar Matiasek, Andrea Fischer, Hannes Lohi
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28215998/photosensitivity-in-generalized-epilepsies
#17
REVIEW
Shervonne Poleon, Jerzy P Szaflarski
Photosensitivity, which is the hallmark of photosensitive epilepsy (PSE), is described as an abnormal EEG response to visual stimuli known as a photoparoxysmal response (PPR). The PPR is a well-recognized phenomenon, occurring in 2-14% of patients with epilepsy but its pathophysiology is not clearly understood. PPR is electrographically described as 2-5Hz spike, spike-wave, or slow wave complexes with frontal and paracentral prevalence. Diagnosis of PPR is confirmed using intermittent photic stimulation (IPS) as well as video monitoring...
March 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#18
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
February 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28074997/-classification-of-idiopathic-generalised-epilepsies-in-patients-over-16-years-of-age
#19
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
#20
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
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