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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/29396358/impact-of-sleep-disorders-on-the-risk-of-seizure-recurrence-in-juvenile-myoclonic-epilepsy
#1
Laura Buratti, Alice Natanti, Giovanna Viticchi, Lorenzo Falsetti, Simona Lattanzi, Alessandra Pulcini, Cristina Petrelli, Leandro Provinciali, Mauro Silvestrini
OBJECTIVE: The aim of this study was to investigate the presence of sleep disturbances in patients with juvenile myoclonic epilepsy (JME) using sleep questionnaires. Further, we tried to evaluate whether alterations in sleep quality may influence the clinical expression of JME. METHODS: Sixty-two patients with JME treated with levetiracetam were included. Demographic and clinical variables were collected. Moreover, all patients submitted the Pittsburgh Sleep Quality index (PSQI) and the Epworth Sleepiness Scale (ESS) in order to respectively assess sleep quality during the last month and daytime sleepiness...
January 19, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29358100/juvenile-myoclonic-epilepsy-and-sleep
#2
REVIEW
Lin Xu, Dan Guo, Yan-Yan Liu, Dan-Dan Qiao, Jing-Yi Ye, Rong Xue
Juvenile myoclonic epilepsy (JME) is a sleep-related epilepsy syndrome, and only a few studies have addressed the relationship between JME and sleep disorders. In this review, the sleep characteristics of patients with JME were summarized based on the features of circadian rhythm, the possible cause of the early morning seizures, the common subjective and objective sleep disorders, the alterations in sleep architecture, and the effect of sleep deprivation and sodium valproate (VPA). The aims of this study were to summarize the interaction between JME and sleep, to reveal JME sleep characteristics, to encourage clinicians to focus on JME and sleep, to heighten the positive diagnosis rate, to guide the treatment, to improve the prognosis, and to enhance the daily life quality of patients with JME...
January 18, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29344465/grey-and-white-matter-alterations-in-juvenile-myoclonic-epilepsy-a-comprehensive-review
#3
REVIEW
Ji Hyun Kim
Juvenile myoclonic epilepsy (JME) has been classified as a syndrome of idiopathic generalized epilepsy and is characterized by a strong genetic basis, age-specific onset of seizures, specific types of seizures, generalized spike-wave discharges on electroencephalography, and a lack of focal abnormality on magnetic resonance imaging (MRI). Recently, a wide range of advanced neuroimaging techniques have been utilized to elucidate the neuroanatomical substrates and pathophysiological mechanisms underlying JME...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29327224/prevalence-and-clinical-characteristics-of-headache-in-juvenile-myoclonic-epilepsy-experience-from-a-tertiary-epilepsy-center
#4
Metin Dedei Daryan, Betül Tekin Güveli, Sezin Alpaydın Baslo, Kasım Mulhan, Hüseyin Sarı, Zeynep Ezgi Balçık, Dilek Ataklı
The comorbidity of headache and epilepsy is often seen in neurological practice. The objective of this study was to assess the prevalence, types of, and risk factors for headache in juvenile myoclonic epilepsy (JME). We assessed a total of 200 patients and 100 healthy controls in our study. Headache was classified in participants using a self-administered questionnaire. Demographical, clinical features and headache characteristics were recorded. Seizure and headache temporal profiles were noted. Headache was present in 111 (56%) patients and 50 (50%) healthy participants...
January 11, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29284817/a-case-of-early-onset-subacute-sclerosing-panencephalitis-presented-as-juvenile-myoclonic-epilepsy
#5
Ranjan Bhattacharyya, Bhaskar Mukherjee, Sumita Bhattacharyya
A 7.5 years girl presented with myoclonic jerks with prolonged duration coming progressively at shorter intervals for last six moinths. There was declining academic performances. The dystonic, dyskinetic movements and ataxia were there for last three months. The stages were progressing too rapidly. IgG antibody titre to measles virus was found to be positive with EEG changes which confirms diagnosis. SSPE at so early age with atypical presentation is unique in this indexed case.
November 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29223414/juvenile-myoclonic-epilepsy-an-insider-s-guide
#6
EDITORIAL
Timothy J Counihan
No abstract text is available yet for this article.
December 6, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29213036/-pathomorphosis-of-idiopathic-generalized-epilepsy-juvenile-forms
#7
A S Kotov, Yu V Eliseev, Yu V Tokareva
AIM: To investigate the pathomorphosis of idiopathic generalized epilepsy (IGE) in the aspect of prognosis. MATERIAL AND METHODS: The study involved 1480 patients with epilepsy including 281 patients with IGE. RESULTS AND CONCLUSION: 'Juvenile' forms were diagnosed in 228 patients. Relapse of seizures in anamnesis occurred in 19% out of 105 patients with juvenile myoclonic epilepsy (JME). Remission was achieved in 59.2% out of 76 patients with long-term follow-up...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29213035/-problems-of-juvenile-myoclonic-epilepsy-a-view-through-the-prism-of-time
#8
V A Karlov, V S Zolovkina
The authors present a comparative analysis of the results of the study of 72 adolescent patients with juvenile myoclonic epilepsy (JME), which were published in 2010, and a new sample of patients over the last 5 years with the publications of domestic and foreign authors. Difficult clinical cases are described. These data indicate positive shifts in the diagnosis and treatment of JME. However, the question of diagnosis is still a hard problem for neurologists. The questions to be resolved are: gender aspect of the disease, to what extent levetiracetam could be a drug of first choice and to what extent valproats could be replaced; monitoring of children born to mothers with JME, a role of paternal inheritance...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29194766/absence-seizures-as-a-feature-of-juvenile-myoclonic-epilepsy-in-rhodesian-ridgeback-dogs
#9
F Wielaender, F M K James, M A Cortez, G Kluger, J N Neßler, A Tipold, H Lohi, A Fischer
Myoclonic epilepsy in Rhodesian Ridgeback (RR) dogs is characterized by myoclonic seizures occurring mainly during relaxation periods, a juvenile age of onset and generalized tonic-clonic seizures in one-third of patients. An 8-month-old female intact RR was presented for myoclonic seizures and staring episodes that both started at 10 weeks of age. Testing for the DIRAS1 variant indicated a homozygous mutant genotype. Unsedated wireless video-electroencephalography (EEG) identified frequent, bilaterally synchronous, generalized 4 Hz spike-and-wave complexes (SWC) during the staring episodes in addition to the characteristic myoclonic seizures with generalized 4-5 Hz SWC or 4-5 Hz slowing...
January 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29179101/the-cinderella-syndrome-a-narrative-study-of-social-curfews-and-lifestyle-restrictions-in-juvenile-myoclonic-epilepsy
#10
Teresa Leahy, Michael J Hennessy, Timothy J Counihan
Several factors are thought to contribute to inadequate seizure control in patients with juvenile myoclonic epilepsy (JME), including drug resistance, neuropsychiatric comorbidity, and poor lifestyle choices. Recent evidence supports the existence of frontal lobe microstructural deficits and behavioral changes that may contribute to poor seizure control in a minority of patients. Counseling patients on the importance of adequate sleep hygiene and alcohol restriction is an important part of the management strategy for patients with JME...
November 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29161907/heightened-background-cortical-synchrony-in-patients-with-epilepsy-eeg-phase-synchrony-analysis-during-awake-and-sleep-stages-using-novel-ensemble-measure
#11
Chetan S Nayak, N Mariyappa, Kaushik K Majumdar, Pradeep D Prasad, G S Ravi, M Nagappa, Thennarasu Kandavel, Arun B Taly, Sanjib Sinha
INTRODUCTION: Excessive cortical synchrony within neural ensembles has been implicated as an important mechanism driving epileptiform activity. The current study measures and compares background electroencephalographic (EEG) phase synchronization in patients having various types of epilepsies and healthy controls during awake and sleep stages. METHODS: A total of 120 patients with epilepsy (PWE) subdivided into 3 groups (juvenile myoclonic epilepsy [JME], temporal lobe epilepsy [TLE], and extra-temporal lobe epilepsy [Ex-TLE]; n = 40 in each group) and 40 healthy controls were subjected to overnight polysomnography...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/29159052/subcortical-grey-matter-changes-in-juvenile-myoclonic-epilepsy
#12
Ji Hyun Kim, Jung Bin Kim, Sang-Il Suh, Dong Wook Kim
Recent neuroimaging studies have provided converging evidence of structural and functional abnormalities of the thalamus in patients with juvenile myoclonic epilepsy (JME). There has also been limited evidence indicating involvement of the subcortical grey matter structures other than thalamus in JME, but with inconsistent findings across the studies. In the present study, we combined volumetric MRI and diffusion tensor imaging analyses to investigate macrostructural and microstructural alterations of the subcortical grey matter in 64 JME patients compared to 58 matched control subjects...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29064616/gain-of-function-hcn2-variants-in-genetic-epilepsy
#13
Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nürnberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid
Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wave discharges (SWDs). Pacemaker hyperpolarization-activated cyclic nucleotide-gated channels (HCN) are considered integral to SWD genesis, making them an ideal gene candidate for GGE. We identified HCN2 missense variants from a large cohort of 585 GGE patients, recruited by the Epilepsy Phenome-Genome Project (EPGP), and performed functional analysis using two-electrode voltage clamp recordings from Xenopus oocytes...
October 24, 2017: Human Mutation
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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