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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/29924869/multi-gene-panel-testing-in-korean-patients-with-common-genetic-generalized-epilepsy-syndromes
#1
Cha Gon Lee, Jeehun Lee, Munhyang Lee
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We identified pathogenic variants according to the American College of Medical Genetics and Genomics guidelines and identified susceptibility variants using case-control association analyses and family analyses for familial cases...
2018: PloS One
https://www.readbyqxmd.com/read/29898974/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-ii-treatment-resistant-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#2
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Forty-two articles were included. RECOMMENDATIONS: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment); rufinamide for Lennox-Gastaut syndrome (LGS) (add-on therapy)...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29898971/practice-guideline-update-summary-efficacy-and-tolerability-of-the-new-antiepileptic-drugs-i-treatment-of-new-onset-epilepsy-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american
#3
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
OBJECTIVE: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs). METHODS: The 2004 AAN criteria were used to systematically review literature (January 2003-November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. RESULTS: Several second-generation AEDs are effective for new-onset focal epilepsy...
June 13, 2018: Neurology
https://www.readbyqxmd.com/read/29870640/-valproate-in-the-treatment-of-epilepsy-and-status-epilepticus
#4
REVIEW
József Janszky, Dalma Tényi, Beáta Bóné
According to Hungarian guidelines, valproate - with the exception of infants and small children as well as fertile women - is the first drug of choice in generalized and unclassified epilepsies because it is effective in most seizure types and epilepsy syndromes. It is highly effective in juvenile myoclonic epilepsy. Even though it is not the first-line drug in focal epilepsies, if the first-line therapy is ineffective, it is a plausible alternative as second choice therapy, owing to its different mechanism of action...
July 30, 2017: Ideggyógyászati Szemle
https://www.readbyqxmd.com/read/29807291/relapse-after-treatment-withdrawal-of-antiepileptic-drugs-for-juvenile-absence-epilepsy-and-juvenile-myoclonic-epilepsy
#5
Liam Healy, Maria Moran, Sumeet Singhal, Michael F O'Donoghue, Rania Alzoubidi, William P Whitehouse
PURPOSE: Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment. We therefore wanted to determine how many patients attending our epilepsy service with JAE or JME went into 2 year remission, and then relapsed, both off and on AEDs. METHOD: This was a retrospective case-notes review. Patients with JAE and JME were systematically ascertained from clinic lists and databases at one teaching hospital...
May 20, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29803873/transcranial-magnetic-stimulation-in-myoclonus-of-different-aetiologies
#6
REVIEW
Raffaele Nardone, Viviana Versace, Yvonne Höller, Luca Sebastianelli, Francesco Brigo, Piergiorgio Lochner, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. We identified and reviewed 40 articles matching the inclusion criteria; 415 patients were included in these studies...
May 24, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29780332/myoclonic-jerks-and-schizophreniform-syndrome-case-report-and-literature-review
#7
Dominique Endres, Dirk-M Altenmüller, Bernd Feige, Simon J Maier, Kathrin Nickel, Sabine Hellwig, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P Doerr, Karl Egger, Ludger Tebartz van Elst
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29778354/the-genetic-basis-of-juvenile-myoclonic-epilepsy
#8
Pasquale Striano, Carlo Nobile
No abstract text is available yet for this article.
June 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29736355/juvenile-myoclonic-epilepsy-presenting-with-neurocognitive-impairment-a-case-report
#9
Sarfraz Mahesar, Hira F Akbar, Husnain Abid, Rabia Sana
Juvenile myoclonic epilepsy (JME) is a genetically and clinically diverse disorder which is characterized by myoclonic jerks, usually after awakening from sleep. It affects both genders equally and manifests during the second decade of life. The various precipitating factors include stress, light, sleep deprivation, and alcohol. A history of morning clumsiness supported by typical electroencephalography (EEG) findings, together with a normal clinical examination all point towards a diagnosis of JME. We present the case of a nine-year-old girl who presented with cognitive dysfunction in addition to myoclonic jerks...
March 5, 2018: Curēus
https://www.readbyqxmd.com/read/29729533/predictive-factors-of-higher-drug-load-for-seizure-freedom-in-idiopathic-generalized-epilepsy-comparison-between-juvenile-myoclonic-epilepsy-and-other-types
#10
Yu Kitazawa, Kazutaka Jin, Yosuke Kakisaka, Mayu Fujikawa, Fumiaki Tanaka, Nobukazu Nakasato
PURPOSE: Predictive factors of higher drug load for seizure freedom were investigated in idiopathic generalized epilepsy (IGE), focusing on the difference between juvenile myoclonic epilepsy (JME) and other types of IGE (non-JME IGE). METHODS: Twelve patients with JME and 12 patients with non-JME IGE, who achieved seizure freedom for 1 year or longer with appropriate antiepileptic drugs (AEDs) after video electroencephalography monitoring, were reviewed retrospectively...
August 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29708173/uncertainties-from-a-worldwide-survey-on-antiepileptic-drug-withdrawal-after-seizure-remission
#11
Luca Bartolini, Shahram Majidi, Mohamad Z Koubeissi
Background: We sought to determine differences in practice for discontinuation of antiepileptic drugs (AEDs) after seizure remission and stimulate the planning and conduction of withdrawal trials. Methods: We utilized a worldwide electronic survey that included questions about AED discontinuation for 3 paradigmatic cases in remission: (1) focal epilepsy of unknown etiology, (2) temporal lobe epilepsy after surgery, and (3) juvenile myoclonic epilepsy. We analyzed 466 complete questionnaires from 53 countries, including the United States...
April 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29681927/altered-structural-and-functional-connectivity-of-juvenile-myoclonic-epilepsy-an-fmri-study
#12
Chengqing Zhong, Rong Liu, Cheng Luo, Sisi Jiang, Li Dong, Rui Peng, Fuqiang Guo, Pu Wang
The aim of this study was to investigate the structural and functional connectivity (FC) of juvenile myoclonic epilepsy (JME) using resting state functional magnetic resonance imaging (rs-fMRI). High-resolution T1-weighted magnetic resonance imaging (MRI) and rs-fMRI data were collected in 25 patients with JME and in 24 control subjects. A FC analysis was subsequently performed, with seeding at the regions that demonstrated between-group differences in gray matter volume (GMV). Then, the observed structural and FCs were associated with the clinical manifestations...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#13
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
#14
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...
May 2018: Epilepsia
https://www.readbyqxmd.com/read/29602081/juvenile-myoclonic-epilepsy-refractory-to-treatment-in-a-tertiary-referral-center
#15
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...
May 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29539279/variant-intestinal-cell-kinase-in-juvenile-myoclonic-epilepsy
#16
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
#17
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...
2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29465899/electroclinical-and-prognostic-characteristics-of-epilepsy-patients-with-photosensitivity
#18
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
#19
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
#20
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
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