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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/28549335/microstructural-alterations-of-white-matter-in-juvenile-myoclonic-epilepsy
#1
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
#2
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...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28542735/sleep-convulsive-seizures-predict-lack-of-remission-in-genetic-generalized-epilepsies-a-retrospective-study-from-a-single-epilepsy-center-in-egypt
#3
A Ashmawi, H Hosny, M Gadallah, E Beghi
BACKGROUND: Genetic generalized epilepsies (GGEs) represent 15-20% of all epilepsies. There are no studies on the outcome of GGEs in the Middle East. AIMS: To investigate the long-term prognosis of GGEs and identify prognostic predictors in Egypt. MATERIAL & METHODS: This is a retrospective cohort study of consecutive children and adults with GGEs seen in an epilepsy clinic in Cairo, Egypt, followed for 10+ years. Follow-up visits were scheduled every 3-6 months or earlier...
May 21, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#4
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28532712/photosensitivity-and-epilepsy-current-concepts-and-perspectives-a-narrative-review
#5
REVIEW
A Martins da Silva, Bárbara Leal
The authors review the influence of photic stimuli on the generation of epileptic seizures, addressing the first descriptions of the phenomenon and its subsequent exploration. Initially defined in the 1950's, links between intermittent photic stimulation (IPS) and seizures were well understood by the 1970. Since then the increasing exposure to photic stimuli associated with modern life (for instance through TVs, patterns, computer games and electronic instruments with flickering displays) has led to an increased interest in this issue...
April 5, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28527369/prolonged-epileptiform-eeg-runs-are-associated-with-persistent-seizures-in-juvenile-myoclonic-epilepsy
#6
Vibeke Arntsen, Trond Sand, Marte R Syvertsen, Eylert Brodtkorb
OBJECTIVE: In juvenile myoclonic epilepsy (JME), various EEG characteristics have been suggested as poor prognostic signs, but their significance is unclear. The aim of this study was to assess the influence of EEG variables on seizure and psychosocial outcome after a follow-up exceeding 20 years. METHODS: 396 EEG recordings were available for assessment in 40 patients (42 complete digital, 330 paper segments and 24 written reports only). Mean follow-up was 31 years (range 20-68)...
May 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#7
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#8
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28511630/corpus-callosotomy-for-intractable-epilepsy-revisited-the-children-s-hospital-of-michigan-series
#9
Aimee F Luat, Eishi Asano, Ajay Kumar, Harry T Chugani, Sandeep Sood
Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/3 followed later by complete callosotomy. Ten had endoscopic approach. In all, 65% had ≥ 50% reduction of generalized seizures leading to falls (atonic, tonic, myoclonic); 35% became seizure-free (follow-up period: 6 months to 9 years; mean 3 years)...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28505490/heat-induced-temperature-dysregulation-and-seizures-in-dravet-syndrome-gefs-gabrg2-q390x-mice
#10
Timothy A Warner, Zhong Liu, Robert L Macdonald, Jing-Qiong Kang
It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. In patients, the onset of FS is likely due to the combined effect of temperature and inflammation in genetically vulnerable individuals because fever is often associated with infection. Much effort has been spent to understand the mechanisms underlying fever induction of seizures...
April 30, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28480171/pathogenicity-in-polg-syndromes-dna-polymerase-gamma-pathogenicity-prediction-server-and-database
#11
Anssi Nurminen, Gregory A Farnum, Laurie S Kaguni
DNA polymerase gamma (POLG) is the replicative polymerase responsible for maintaining mitochondrial DNA (mtDNA). Disorders related to its functionality are a major cause of mitochondrial disease. The clinical spectrum of POLG syndromes includes Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), the ataxia neuropathy spectrum (ANS) and progressive external ophthalmoplegia (PEO). We have collected all publicly available POLG-related patient data and analyzed it using our pathogenic clustering model to provide a new research and clinical tool in the form of an online server...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/28468601/anticonvulsant-activity-of-caryocar-coriaceum-wittm-fixed-pulp-oil-against-pentylenetetrazol-induced-seizures
#12
Cleide Correia Oliveira, Clarissa Vasconcelos Oliveira, Jéssica Grigoletto, Leandro Rodrigo Ribeiro, Vinícius Rafael Funck, Letícia Meier, Michele Rechia Fighera, Luiz Fernando Freire Royes, Ana Flávia Furian, Irwin Rose Alencar Menezes, Mauro Schneider Oliveira
OBJECTIVES: Epilepsy is a common brain disease and a major worldwide public health problem. The seizures in a significant number of patients suffering from epilepsy remain inadequately controlled by currently available pharmacological treatments. Accordingly, there is a need for the discovery of new anticonvulsant approaches with improved efficacy and a better safety profile. In this context, natural products can be a valuable source of substances with potential anticonvulsant activity...
May 3, 2017: Neurological Research
https://www.readbyqxmd.com/read/28464258/long-term-outcome-in-adolescent-onset-generalized-genetic-epilepsies
#13
Bernd J Vorderwülbecke, Alexander B Kowski, Andrea Kirschbaum, Hannah Merkle, Philine Senf, Dieter Janz, Martin Holtkamp
OBJECTIVE: Until now, it has been unclear if the three subsyndromes of adolescent-onset generalized genetic epilepsy (GGE) differ in long-term prognosis. Therefore, this study aimed to compare long-term seizure outcome in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (EGTCS). METHODS: This retrospective study is based on the archive of an institutional tertiary care outpatient clinic for adult patients with epilepsy...
May 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28462797/d-glyceric-aciduria-does-not-cause-nonketotic-hyperglycinemia-a-historic-co-occurrence
#14
Michael A Swanson, Stephanie M Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell, Melanie Walter, Ernst Christensen, Johan L K Van Hove, Jörn Oliver Sass
Historically, d-glyceric aciduria was thought to cause an uncharacterized blockage to the glycine cleavage enzyme system (GCS) causing nonketotic hyperglycinemia (NKH) as a secondary phenomenon. This inference was reached based on the clinical and biochemical results from the first d-glyceric aciduria patient reported in 1974. Along with elevated glyceric acid excretion, this patient exhibited severe neurological symptoms of myoclonic epilepsy and absent development, and had elevated glycine levels and decreased glycine cleavage system enzyme activity...
April 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28458437/levetiracetam-induced-leukocytoclastic-vasculitis
#15
Mrinal Gupta
Drug-induced leukocytoclastic vasculitis is a small-vessel vasculitis that most commonly manifests with palpable purpuric lesions on gravity-dependent areas. Vasculitis occurs within weeks after initial administration of medication and demonstrates clearance upon withdrawal of medication. Levetiracetam, a pyrrolidone derivative, is used as an adjunctive therapy in patients with refractory focal epilepsy, myoclonic epilepsy, and primary generalized tonic-clonic seizures. We present a case of a 14-year-old female, who developed cutaneous small-vessel vasculitis within 8 days of initiation of levetiracetam...
January 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/28446201/anticonvulsant-effects-of-antiaris-toxicaria-aqueous-extract-investigation-using-animal-models-of-temporal-lobe-epilepsy
#16
Priscilla Kolibea Mante, Donatus Wewura Adongo, Eric Woode
BACKGROUND: Antiaris toxicaria has previously shown anticonvulsant activity in acute animal models of epilepsy. The aqueous extract (AAE) was further investigated for activity in kindling with pentylenetetrazole and administration of pilocarpine and kainic acid which mimic temporal lobe epilepsy in various animal species. RESULTS: ICR mice and Sprague-Dawley rats were pre-treated with AAE (200-800 mg kg(-1)) and convulsive episodes induced using pentylenetetrazole, pilocarpine and kainic acid...
April 26, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28437535/clinical-aspects-of-glucose-transporter-type-1-deficiency-information-from-a-global-registry
#17
Jian Hao, Dorothy I Kelly, Jianzhong Su, Juan M Pascual
Importance: Case reports regularly document unique or unusual aspects of glucose transporter type 1 deficiency (G1D). In contrast, population studies from which to draw global inferences are lacking. Twenty-five years after the earliest case reports, this deficiency still particularly affects treatment and prognostic counseling. Objective: To examine the most common features of G1D. Design, Setting, and Participants: In this study, data were collected electronically from 181 patients with G1D through a web-based, worldwide patient registry from December 1, 2013, through December 1, 2016...
April 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28434203/topiramate-monotherapy-for-juvenile-myoclonic-epilepsy
#18
REVIEW
Jia Liu, Lu-Ning Wang, Yu-Ping Wang
BACKGROUND: Topiramate is a newer broad-spectrum antiepileptic drug (AED). Some studies have shown the benefits of topiramate monotherapy in the treatment of juvenile myoclonic epilepsy (JME). However, there are no current systematic reviews to determine the efficacy and tolerability of topiramate monotherapy in people with JME. This is an updated version of the original Cochrane Review published in Issue 12, 2015. OBJECTIVES: To evaluate the efficacy and tolerability of topiramate monotherapy in the treatment of JME...
April 23, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28431366/efficacy-and-safety-of-a-video-eeg-protocol-for-genetic-generalized-epilepsies
#19
Luciana Rodrigues De Marchi, Jeana Torres Corso, Ana Carolina Zetehaku, Carina Gonçalves Pedroso Uchida, Mirian Salvadori Bittar Guaranha, Elza Márcia Targas Yacubian
INTRODUCTION: Video-EEG has been used to characterize genetic generalized epilepsies (GGE). For best performance, sleep recording, photic stimulation, hyperventilation, and neuropsychological protocols are added to the monitoring. However, risks and benefits of these video-EEG protocols are not well established. The aim of this study was to analyze the efficacy and safety of a video-EEG neuropsychological protocol (VNPP) tailored for GGE and compare its value with that of routine EEG (R-EEG)...
May 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28425015/the-new-classification-of-seizures-by-the-international-league-against-epilepsy-2017
#20
REVIEW
Robert S Fisher
PURPOSE OF REVIEW: This review presents the newly developed International League Against Epilepsy (ILAE) 2017 classification of seizure types. RECENT FINDINGS: The fundamental distinction is between seizures that begin focally in one hemisphere of the brain, generalized onset seizures that apparently originate in both hemispheres, and seizures of unknown onset. Focal seizures optionally can be subclassified according to whether awareness (a surrogate marker for consciousness) is intact or impaired...
June 2017: Current Neurology and Neuroscience Reports
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