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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/27923174/generalized-epilepsy-syndromes-and-callosal-thickness-differential-effects-between-patients-with-juvenile-myoclonic-epilepsy-and-those-with-generalized-tonic-clonic-seizures-alone
#1
Stavroula Anastasopoulou, Florian Kurth, Eileen Luders, Ivanka Savic
PURPOSE: The definition of two well-studied genetic generalized epilepsy syndromes (GGE) - juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) - suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum...
November 18, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27918962/source-localization-of-epileptiform-discharges-in-juvenile-myoclonic-epilepsy-jme-using-magnetoencephalography-meg
#2
Veeranna Gadad, Sanjib Sinha, Narayanan Mariyappa, Ganne Chaithanya, Velmurugan Jayabal, Jitender Saini, Kandivel Thennarasu, Parthasarathy Satishchandra
OBJECTIVE: The purpose of this study is to localize the sources of epileptiform discharges (EDs), in juvenile myoclonic epilepsy (JME) using Magnetoencephalography (MEG), at three different time instances and analyze the propagation of EDs, from onset to offset, for inferring the cortical and subcortical region of involvement. METHODS: Twenty patients (age 23.5±6.3years old) with JME were recruited in this prospective study. MEG source analysis was performed on the independently collected EDs of each patient...
November 29, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27912171/the-topographical-distribution-of-epileptic-spikes-in-juvenile-myoclonic-epilepsy-with-and-without-photosensitivity
#3
P R Bauer, K Gorgels, W Spetgens, N E C van Klink, F S S Leijten, J W Sander, G H Visser, M Zijlmans
OBJECTIVE: Up to 30% of people with juvenile myoclonic epilepsy (JME) have photoparoxysmal responses (PPR). Recent studies report on structural and pathophysiological differences between people with JME with (JME+PPR) and without PPR (JME-PPR). We investigated whether electrophysiological features outside photic stimulation differ between these subtypes. METHODS: We analysed EEG recordings of people with JME at a tertiary epilepsy centre and an academic hospital...
November 14, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27912112/ethnic-variation-of-genetic-idiopathic-generalized-epilepsy-in-malaysia
#4
Kheng Seang Lim, Ching Ching Ng, Chung Kin Chan, Wee Shean Foo, Joyce Siew Yong Low, Chong Tin Tan
PURPOSE: Ethnic variation in epilepsy classification was reported in the Epilepsy Phenome/Genome Project. This study aimed to determine the ethnic variation in the prevalence of genetic (idiopathic) generalized epilepsy (GGE) and GGE with family history in a multi-ethnic Asian population in Malaysia. METHOD: In this cross-sectional study, 392 patients with a clinical diagnosis of GGE were recruited in the neurology outpatient clinic, University of Malaya Medical Centre (UMMC), from January 2011 till April 2016...
November 24, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#5
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#6
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27888502/a-novel-c132-134del-mutation-in-unverricht-lundborg-disease-and-the-review-of-literature-of-heterozygous-compound-patients
#7
Giovanni Assenza, Antonella Benvenga, Elena Gennaro, Mario Tombini, Chiara Campana, Federica Assenza, Giovanni Di Pino, Vincenzo Di Lazzaro
Unverricht-Lundborg disease or progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disease caused by mutation of the cystatin B gene (CSTB), located on chromosome 21q22.3. The most common mutation is an expansion of unstable dodecamer repetition (CCCCGCCCCGCG), whereas other types of mutations are rare. Among these, heterozygous compound mutations are described to induce a more severe phenotype than that of homozygous dodecameric repetition. We report two siblings affected by heterozygous compound mutations carrying a novel mutation of the deletion of three nucleotides in exon 2 of the gene in position 132-134 of the coding sequence (c...
November 26, 2016: Epilepsia
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#8
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
November 16, 2016: Epilepsia
https://www.readbyqxmd.com/read/27843503/review-cav2-3-r-type-voltage-gated-ca-2-channels-functional-implications-in-convulsive-and-non-convulsive-seizure-activity
#9
Carola Wormuth, Andreas Lundt, Christina Henseler, Ralf Müller, Karl Broich, Anna Papazoglou, Marco Weiergräber
BACKGROUND: Researchers have gained substantial insight into mechanisms of synaptic transmission, hyperexcitability, excitotoxicity and neurodegeneration within the last decades. Voltage-gated Ca(2+) channels are of central relevance in these processes. In particular, they are key elements in the etiopathogenesis of numerous seizure types and epilepsies. Earlier studies predominantly targeted on Cav2.1 P/Q-type and Cav3.2 T-type Ca(2+) channels relevant for absence epileptogenesis. Recent findings bring other channels entities more into focus such as the Cav2...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27835783/analysis-of-the-tremor-in-juvenile-myoclonic-epilepsy
#10
Zeynep Aydin-Özemir, Zeliha Matur, Betul Baykan, Başar Bilgic, Pınar Tekturk, Nerses Bebek, Candan Gurses, Hasmet Hanagasi, Ali Emre Oge
PURPOSE: We aimed to investigate juvenile myoclonic epilepsy (JME) patients complaining of tremor unrelated to valproate (VPA) treatment and evaluate if there were differences between JME patients with and without tremor and essential tremor (ET) patients to exclude comorbidity. METHODS: Fifteen JME cases with the complaint of tremor, 14 JME patients without tremor, 14 patients with ET and 14 healthy subjects (HS) were included. Regularity, frequency and amplitude of the tremor and superimposed myoclonia were assessed by accelerometric analysis...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27818795/juvenile-myoclonic-epilepsy-in-rural-western-india-not-yet-a-benign-syndrome
#11
Devangi Desai, Soaham Desai, Trilok Jani
Purpose. To study prevalence of uncontrolled seizures in patients with juvenile myoclonic epilepsy [JME] and assess factors responsible for it. Methods. An ambispective study of all patients with JME attending our epilepsy clinic was done. We recruited all patients with JME evaluated between 1 January 2009 and 31 December 2013 and followed them up to 31 December 2015. Results. Amongst 876 patients with epilepsy, JME was present in 73 patients. Amongst them, 53 [72.6%] had uncontrolled seizures prior to neurology consultation...
2016: Epilepsy Research and Treatment
https://www.readbyqxmd.com/read/27817982/from-genotype-to-phenotype-in-dravet-disease
#12
Svetlana Gataullina, Olivier Dulac
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Myoclonic status may occur in childhood, but acute encephalopathy with febrile SE followed by ischemic lesions and psychomotor impairment, the most severe condition, occurs mainly within the first five years of life...
October 21, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27810518/social-cognition-in-juvenile-myoclonic-epilepsy
#13
Filippo S Giorgi, Melania Guida, Lorenzo Caciagli, Cristina Pagni, Chiara Pizzanelli, Enrica Bonanni, Gloria Tognoni, Ubaldo Bonuccelli
OBJECTIVE: Juvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27790834/low-dose-fenfluramine-significantly-reduces-seizure-frequency-in-dravet-syndrome-a-prospective-study-of-a-new-cohort-of-patients
#14
A Schoonjans, B P Paelinck, F Marchau, B Gunning, A Gammaitoni, B S Galer, L Lagae, B Ceulemans
BACKGROUND AND PURPOSE: Dravet syndrome (DS) is a severe, drug-resistant epilepsy. Fenfluramine has been reported to have a long-term clinically meaningful anticonvulsive effect in patients with DS. METHODS: This prospective, open-label study assessed the safety and effectiveness of low-dose fenfluramine in a new cohort of patients with DS. Following a 3-month baseline period, fenfluramine was added to each patient's current antiepileptic drug regimen at a dose of 0...
October 28, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27785699/cerebellar-involvement-in-patients-with-mild-to-moderate-myoclonus-due-to-epm1-structural-and-functional-mri-findings-in-comparison-with-healthy-controls-and-ataxic-patients
#15
Anna Nigri, Elisa Visani, Nicola Bertolino, Lorenzo Nanetti, Caterina Mariotti, Marta Panzeri, Maria Grazia Bruzzone, Silvana Franceschetti, Laura Canafoglia
EPM1 (epilepsy, progressive myoclonic 1; Unverricht-Lundborg disease, OMIM #254800) is the most frequent form of progressive myoclonus epilepsy. Previous findings have suggested that its pathophysiology mainly involves the cerebellum, but the evaluation of cerebellar dysfunction is still unsatisfactory. The aim of this study was to assess the structural and functional involvement of the cerebellum in EPM1. We used voxel-based morphometry and spatially unbiased infra-tentorial template analyses of structural magnetic resonance imaging (MRI) scans, and functional MRI (fMRI) scans during block and event-related go/no-go motor tasks to study 13 EPM1 patients with mild to moderate myoclonus...
October 26, 2016: Brain Topography
https://www.readbyqxmd.com/read/27781034/generalized-epilepsy-and-myoclonic-seizures-in-22q11-2-deletion-syndrome
#16
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27770719/epilepsy-with-myoclonic-absences-electroclinical-characteristics-in-a-distinctive-pediatric-epilepsy-phenotype
#17
Paresh Zanzmera, Ramshekhar N Menon, Kalyani Karkare, Himanshu Soni, Sujit Jagtap, Ashalatha Radhakrishnan
PURPOSE: The purpose of this article was to study the electroclinical characteristics and seizure outcome of children with epilepsy with myoclonic absences (EMA). METHOD: In this descriptive cohort study, we reviewed clinical records of patients who met the criteria for EMA. Each patient's demographic data, birth/developmental history, seizure semiology/pattern, antiepileptic drugs (AED), clinical examination, video-electroencephalography (VEEG), and neuroimaging data were reviewed...
October 19, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27765558/juvenile-myoclonic-epilepsy-may-be-a-disorder-of-cortex-rather-than-thalamus-an-effective-connectivity-analysis
#18
Kang Min Park, Byung In Lee, Kyong Jin Shin, Sam Yeol Ha, JinSe Park, Si Eun Kim, Hyung Chan Kim, Tae Hyung Kim, Chi Woong Mun, Sung Eun Kim
Although juvenile myoclonic epilepsy has been considered as a disorder of thalamo-cortical circuit, it is not determined the causality relationship between thalamus and cortex. The aim of this study was to evaluate whether juvenile myoclonic epilepsy is a disorder of thalamus or cortex. Twenty-nine patients with juvenile myoclonic epilepsy and 20 normal controls were enrolled in this study. In addition, we included 10 patients with childhood absence epilepsy as a disease control group. Using whole-brain T1-weighted MRIs, we analyzed the volumes of the structures, including hippocampus, thalamus, and total cortex, with FreeSurfer 5...
October 17, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27763964/can-eeg-differentiate-among-syndromes-in-genetic-generalized-epilepsy
#19
Udaya Seneviratne, Graham Hepworth, Mark Cook, Wendyl D'Souza
PURPOSE: To evaluate electroencephalographic (EEG) differences among syndromes in genetic generalized epilepsy (GGE) based on quantified data. METHODS: 24-hour ambulatory EEGs were recorded in consecutive patients diagnosed with GGE. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). We conducted one-way analysis of variance (ANOVA) to find out differences in EEG density scores among the syndromes...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/27742667/pathogenic-variants-in-kctd7-perturb-neuronal-k-fluxes-and-glutamine-transport
#20
Marivi Nabong Moen, Roar Fjær, El Hassan Hamdani, Jon K Laerdahl, Robin Johansen Menchini, Magnus Dehli Vigeland, Ying Sheng, Dag Erik Undlien, Bjørnar Hassel, Mustafa A Salih, Heba Y El Khashab, Kaja Kristine Selmer, Farrukh Abbas Chaudhry
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks. In his second year he lost the ability to walk and talk, and he developed drug-resistant progressive myoclonus epilepsy. The cerebrospinal fluid level of glutamate was decreased while glutamine was increased. His younger brother manifested similar symptoms from 6 months of age...
December 2016: Brain: a Journal of Neurology
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