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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/29327337/generalized-nonmotor-absence-seizures-what-do-absence-generalized-and-nonmotor-mean
#1
REVIEW
Iris Unterberger, Eugen Trinka, Peter W Kaplan, Gerald Walser, Gerhard Luef, Gerhard Bauer
OBJECTIVE: Clinical absences are now classified as "generalized nonmotor (absence) seizures" by the International League Against Epilepsy (ILAE). The aim of this paper is to critically review the concept of absences and to put the accompanying focal and motor symptoms into the context of the emerging pathophysiological knowledge. METHODS: For this narrative review we performed an extensive literature search on the term "absence," and analyzed the plethora of symptoms observed in clinical absences...
January 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29327224/prevalence-and-clinical-characteristics-of-headache-in-juvenile-myoclonic-epilepsy-experience-from-a-tertiary-epilepsy-center
#2
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/29325826/myoclonic-absence-seizures-with-complex-gestural-automatisms
#3
Kenneth A Myers, Ingrid E Scheffer
Epilepsy with myoclonic absences is a rare generalized epilepsy syndrome with distinctive seizures. Two unrelated children had mild developmental impairment and onset of myoclonic-absences at 3 and 8 years. Seizures were characterized by bilateral 3 Hz myoclonic jerks superimposed on tonic abduction of the upper limbs. Events lasted 10-60 s, and complex gestural automatisms were often observed; in one case, a boy undid his seatbelt and attempted to exit a moving vehicle. Post-ictally, both children immediately regained awareness without recollection of their actions...
December 19, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29315614/defining-the-phenotypic-spectrum-of-slc6a1-mutations
#4
Katrine M Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton, J Lawrence Merritt, Lance H Rodan, Wen-Hann Tan, Lynne M Bird, Mark Nespeca, Joseph G Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S Verhoeven, Helenius J Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E Shaw, Laura Pisani, Candace T Myers, Sha Tang, Shan Tang, Deb K Pal, John J Millichap, Gemma L Carvill, Kathrine L Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C Mefford, Rikke S Møller
OBJECTIVE: Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature...
January 8, 2018: Epilepsia
https://www.readbyqxmd.com/read/29288969/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-40-year-old-patient-with-the-a8344g-mutation-of-mitochondrial-dna-and-merrf-myoclonic-epilepsy-with-ragged-red-fibers-syndrome
#5
Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Hui-Wen Ko, Huai-En Lu, Yen-Chun Chen, Chia-Ling Tsai, Yi-Chao Hsu, Yau-Huei Wei, Patrick C H Hsieh
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient...
December 19, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29288080/onchocerciasis-associated-epilepsy-an-additional-reason-for-strengthening-onchocerciasis-elimination-programs
#6
REVIEW
Robert Colebunders, F J Nelson Siewe, An Hotterbeekx
A high prevalence of epilepsy has been observed in onchocerciasis-endemic regions with high onchocerciasis transmission. Recent epidemiological studies suggest that Onchocerca volvulus infection is the trigger causing the seizures, which appear in previously healthy children between the ages of 3 and 18 years. Persons with onchocerciasis-associated epilepsy present with a wide spectrum of seizures, including atonic and myoclonic neck seizures; but also absences and most frequently generalized tonic-clonic seizures...
December 26, 2017: Trends in Parasitology
https://www.readbyqxmd.com/read/29284817/a-case-of-early-onset-subacute-sclerosing-panencephalitis-presented-as-juvenile-myoclonic-epilepsy
#7
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/29243556/-preferences-of-aaa-aag-codon-recognition-by-modified-nucleosides-%C3%AF-m5s2u34-and-t6a37-present-in-trnalys
#8
Kailas D Sonawane, Asmita S Kamble, Prayagraj M Fandilolu
Deficiency of 5-taurinomethyl-2-thiouridine, τm5s2U at the 34th 'wobble' position in tRNALys causes MERRF (Myoclonic Epilepsy with Ragged Red Fibers), a neuromuscular disease. This modified nucleoside of mt tRNALys, recognizes AAA/AAG codons during protein biosynthesis process. Its preference to identify cognate codons has not been studied at the atomic level. Hence, multiple MD simulations of various molecular models of anticodon stem loop (ASL) of mt tRNALys in presence and absence of τm5s2U34 and N6-threonylcarbamoyl adenosine (t6A37) along with AAA and AAG codons have been accomplished...
December 15, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29237663/progressive-myoclonic-epilepsy-and-horizontal-gaze-palsy-a-rare-aetiology
#9
Rajveer Singh, Aditya Choudhary, Amith S Kumar, Manoj Kumar Goyal
Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clonic seizures and myoclonus since 17 years of age. Seizures were noted to be resistant to multiple epileptic drugs. He developed gait imbalance, intentional tremor and dysarthria. Detailed examination revealed hepatosplenomegaly, bilateral pancerebellar signs with normal power, reflexes and sensory system...
December 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29223414/juvenile-myoclonic-epilepsy-an-insider-s-guide
#10
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/29214672/region-specific-deletions-of-the-glutamate-transporter-glt1-differentially-affect-seizure-activity-and-neurodegeneration-in-mice
#11
Junya Sugimoto, Moeko Tanaka, Kaori Sugiyama, Yukiko Ito, Hidenori Aizawa, Miho Soma, Tomoko Shimizu, Akira Mitani, Kohichi Tanaka
Glial glutamate transporter GLT1 plays a key role in the maintenance of extracellular glutamate homeostasis. Recent human genetic studies have suggested that de novo mutations in GLT1 (EAAT2) cause early-onset epilepsy with multiple seizure types. Consistent with these findings, global GLT1 null mice show lethal spontaneous seizures. The consequences of GLT1 dysfunction vary between different brain regions, suggesting that the role of GLT1 dysfunction in epilepsy may also vary with brain regions. In this study, we generated region-specific GLT1 knockout mice by crossing floxed-GLT1 mice with mice that express the Cre recombinase in a particular domain of the ventricular zone...
December 6, 2017: Glia
https://www.readbyqxmd.com/read/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#12
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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...
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
#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...
November 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29171397/crossing-the-lines-between-epilepsy-syndromes-a-myoclonic-epilepsy-variant-with-prominent-eyelid-myoclonia-and-atonic-components
#17
Pinelopi Dragoumi, Jacqueline Emery, Fiona Chivers, Megan Brady, Archana Desurkar, J Helen Cross, Krishna B Das
Accurate diagnosis of a distinct epilepsy syndrome is based on well-defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity...
November 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29169047/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy-linked-to-mutations-in-asah1
#18
Edibe Pembegül Yildiz, Gözde Yesil, Gonca Bektas, Mine Caliskan, Burak Tatlı, Nur Aydinli, Meral Ozmen
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with progressive muscle weakness, tremor, seizure, and cognitive impairment...
November 20, 2017: Clinical Neurology and Neurosurgery
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
#19
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
#20
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
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