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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/29223414/juvenile-myoclonic-epilepsy-an-insider-s-guide
#1
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
#2
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
#3
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
#4
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...
November 30, 2017: 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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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