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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#1
D C Jackson, J E Jones, D A Hsu, C E Stafstrom, J J Lin, D Almane, M A Koehn, M Seidenberg, B P Hermann
PURPOSE: To examine the impact of diverse syndromes of focal and generalized epilepsy on language function in children with new and recent onset epilepsy. Of special interest was the degree of shared language abnormality across epilepsy syndromes and the unique effects associated with specific epilepsy syndromes. METHODS: Participants were 136 youth with new or recent-onset (diagnosis within past 12 months) epilepsy and 107 healthy first-degree cousin controls...
March 30, 2018: Brain and Language
https://www.readbyqxmd.com/read/29608786/dna-methylation-of-the-brd2-promoter-is-associated-with-juvenile-myoclonic-epilepsy-in-caucasians
#2
Shilpa Pathak, James Miller, Emily C Morris, William C L Stewart, David A Greenberg
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is a common adolescent-onset genetic generalized epilepsy (GGE) syndrome. Multiple linkage and association studies have found that BRD2 influences the expression of JME. The BRD2-JME connection is further corroborated by our murine model; Brd2 haploinsufficiency produces characteristics that typify the clinical hallmarks of JME. Neither we, nor several large-scale studies of JME, found JME-related BRD2 coding mutations. Therefore, we investigated noncoding BRD2 regions, seeking the origin of BRD2's JME influence...
April 2, 2018: Epilepsia
https://www.readbyqxmd.com/read/29602081/juvenile-myoclonic-epilepsy-refractory-to-treatment-in-a-tertiary-referral-center
#3
Gonçalo Cação, Joana Parra, Shahidul Mannan, Sanjay M Sisodiya, Josemir W Sander
INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. MATERIAL AND METHODS: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29539279/variant-intestinal-cell-kinase-in-juvenile-myoclonic-epilepsy
#4
Julia N Bailey, Laurence de Nijs, Dongsheng Bai, Toshimitsu Suzuki, Hiroyuki Miyamoto, Miyabi Tanaka, Christopher Patterson, Yu-Chen Lin, Marco T Medina, María E Alonso, José M Serratosa, Reyna M Durón, Viet H Nguyen, Jenny E Wight, Iris E Martínez-Juárez, Adriana Ochoa, Aurelio Jara-Prado, Laura Guilhoto, Yolly Molina, Elsa M Yacubian, Minerva López-Ruiz, Yushi Inoue, Sunao Kaneko, Shinichi Hirose, Makiko Osawa, Hirokazu Oguni, Shinji Fujimoto, Thierry M Grisar, John M Stern, Kazuhiro Yamakawa, Bernard Lakaye, Antonio V Delgado-Escueta
BACKGROUND: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis. METHODS: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family members. We screened an additional 310 patients with this disorder for variants on DNA melting-curve analysis and targeted real-time DNA sequencing of the gene encoding intestinal-cell kinase ( ICK)...
March 15, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29490292/top3b-a-novel-candidate-gene-in-juvenile-myoclonic-epilepsy
#5
Marwa Daghsni, Saida Lahbib, Mohamed Fradj, Marwa Sayeb, Wided Kelmemi, Lilia Kraoua, Mariem Kchaou, Faouzi Maazoul, Slim Echebbi, Nadia Ben Ali, Sonia Abdelhak, Ridha M'rad
Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11...
February 28, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29465899/electroclinical-and-prognostic-characteristics-of-epilepsy-patients-with-photosensitivity
#6
Hülya Olgun Yazar, Günay Gül, Tamer Yazar, Fulya Eren, Demet-Yandım Kuscu, Dursun Kirbas
Background and purpose: Epilepsy with photosensitivity (PSE) is one of the reflex epilepsy types with pathophysiology still unexplained. In our study we aimed to evaluate the clinical, electroencephalogram (EEG) and prognosis of patients with PSE diagnosis. Methods: A total of 44 patients with PSE diagnosis according to international classification were included in this retrospective and cross-sectional study. The age, gender, syndrome, clinical and EEG characteristics of patients, and treatment response were investigated...
January 30, 2018: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/29396358/impact-of-sleep-disorders-on-the-risk-of-seizure-recurrence-in-juvenile-myoclonic-epilepsy
#7
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...
March 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29358100/juvenile-myoclonic-epilepsy-and-sleep
#8
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...
March 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29344465/grey-and-white-matter-alterations-in-juvenile-myoclonic-epilepsy-a-comprehensive-review
#9
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
#10
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...
March 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29284817/a-case-of-early-onset-subacute-sclerosing-panencephalitis-presented-as-juvenile-myoclonic-epilepsy
#11
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
#12
EDITORIAL
Timothy J Counihan
No abstract text is available yet for this article.
January 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29213036/-pathomorphosis-of-idiopathic-generalized-epilepsy-juvenile-forms
#13
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
#14
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
#15
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
#16
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...
January 2018: 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
#17
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
#18
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
#19
Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael S 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...
February 2018: Human Mutation
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#20
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)...
March 2018: Clinical and Experimental Pharmacology & Physiology
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