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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/28927715/microstructural-white-matter-changes-and-their-relation-to-neuropsychological-deficits-in-patients-with-juvenile-myoclonic-epilepsy
#1
Susanne Knake, Christine Roth, Marcus Belke, Jens Sonntag, Tobias Kniess, Soeren Krach, Andreas Jansen, Jens Sommer, Frieder M Paulus, Barbara Carl, Felix Rosenow, Anke M Hermsen, Katja Menzler
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI)...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#2
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28926747/ictal-source-imaging-and-electroclinical-correlation-in-self-limited-epilepsy-with-centrotemporal-spikes
#3
Jørgen Alving, Martin Fabricius, Ivana Rosenzweig, Sándor Beniczky
PURPOSE: To elucidate the localization of ictal EEG activity, and correlate it to semiological features in self-limited epilepsy with centrotemporal spikes (formerly called "benign epilepsy with centrotemporal spikes"). METHODS: We have performed ictal electric source imaging, and we analysed electroclinical correlations in three patients with self-limited epilepsy with centrotemporal spikes. RESULTS: The source of the evolving rhythmic ictal activity (9...
September 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28904460/juvenile-myoclonic-epilepsy-with-frontal-executive-dysfunction-is-associated-with-reduced-gray-matter-volume-by-voxel-based-morphometry
#4
Sreeja H Pillai, Sheelakumari Raghavan, Mrudula Mathew, Geetha M Gopalan, Chandrasekharan Kesavadas, Sankara Sarma, Sanjeev V Thomas
OBJECTIVE: Frontal executive dysfunction (FED) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile myoclonic epilepsy (JME). We aimed to compare JME patients with and without FED by group analysis of voxel-based morphometric (VBM) estimates of brain volume in MRI. SUBJECTS AND METHODS: We studied frontal executive functions in patients with JME and analyzed the possible association of FED with their demographic, clinical, and electrographic characteristics...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28902172/behavioral-and-neurochemical-consequences-of-pentylenetetrazol-induced-kindling-in-young-and-middle-aged-rats
#5
Alexandre Ademar Hoeller, Cristiane Ribeiro de Carvalho, Pedro Leite Costa Franco, Douglas Affonso Formolo, Alexandre Kracker Imthon, Henrique Rodighero Dos Santos, Ingrid Eidt, Gabriel Roman Souza, Leandra Celso Constantino, Camila Leite Ferreira, Rui Daniel Prediger, Rodrigo Bainy Leal, Roger Walz
(1) Objectives: Epilepsy disorder is likely to increase with aging, leading to an increased incidence of comorbidities and mortality. In spite of that, there is a lack of information regarding this issue and little knowledge of cognitive and emotional responses in aging subjects following epileptogenesis. We investigated whether and how aging distress epilepsy-related behavioral and biochemical outcomes are associated with cognition and emotion. (2) Methods: Young and middle-aged Wistar rats (3 or 12 months old) were treated with pentylenetetrazol (PTZ, 35 mg/kg) and injected on alternated days for 20 (young rats) and 32 days (middle-aged rats)...
September 13, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28899008/phenotypic-analysis-of-303-multiplex-families-with-common-epilepsies
#6
MULTICENTER STUDY
(no author information available yet)
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized epilepsies remain unexplained. We assembled a cohort of 'genetically enriched' common epilepsies by collecting and phenotyping families containing multiple individuals with unprovoked seizures. We aimed to determine if specific clinical epilepsy features aggregate within families, and whether this segregation of phenotypes may constitute distinct 'familial syndromes' that could inform genomic analyses...
August 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28830309/aberrant-thalamocortical-connectivity-in-juvenile-myoclonic-epilepsy
#7
S Jiang, C Luo, J Gong, R Peng, S Ma, S Tan, G Ye, L Dong, D Yao
The purpose of this study was to investigate the functional connectivity (FC) of thalamic subdivisions in patients with juvenile myoclonic epilepsy (JME). Resting state functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI) data were acquired from 22 JME and 25 healthy controls. We first divided the thalamus into eight subdivisions by performing independent component analysis on tracking fibers and clustering thalamus-related FC maps. We then analyzed abnormal FC in each subdivision in JME compared with healthy controls, and we investigated their associations with clinical features...
June 13, 2017: International Journal of Neural Systems
https://www.readbyqxmd.com/read/28829985/follow-up-study-of-idiopathic-generalized-epilepsy-with-associated-absence-seizure-and-myoclonic-epilepsy-of-infancy
#8
Vincenzo Belcastro, Lucio Giordano, Dario Pruna, Cinzia Peruzzi, Susanna Casellato, Salvatore Barca, Giorgia Carlone, Pasquale Striano, Alberto Verrotti
We evaluated the long-term prognosis of patients featuring the association of absences and myoclonic epilepsy of infancy. Our cohort consisted of 10 male subjects with mean age at seizure onset of 29 months. Follow-up data included seizure outcome and EEG findings. All individuals received antiepileptic drugs (AEDs) as monotherapy (6 patients) or polytherapy (4 patients) for a mean period of 24 months. Over a 30-60 month evaluation period (mean: 43 months), all patients were seizure-free. Follow-up data after withdrawal of antiepileptic therapy were obtained for a mean period of 22 months...
August 14, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28822307/efficacy-of-a-third-or-later-antiepileptic-drug-regimen-according-to-epilepsy-syndrome-among-adult-patients
#9
Go Ito, Akihisa Okumura, Kousuke Kanemoto
OBJECTIVE: To evaluate the efficacy of third or later antiepileptic drug (AED) regimens in adult patients with epilepsy according to epilepsy syndrome. METHODS: The time courses of AEDs and their efficacy were evaluated in 449 adults with temporal lobe epilepsy (TLE, n=153), juvenile myoclonic epilepsy (JME, n=33), or extratemporal focal epilepsy (FE, n=263) based mainly on clinical symptoms and EEG findings. Any change in AEDs after their initiation demarcated the end of one regimen, whereas changes in dose did not...
October 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28805769/-psychiatry-of-the-future-an-overview-of-foreign-scientists-opinions-of-the-position-of-psychiatry-in-the-modern-world
#10
E D Belousova, N N Zavadenko, A A Kholin, A A Sharkov
This review presents the recently published revised classifications of epilepsies and seizure types developed by the International League Against Epilepsy (ILAE). The Classification of Epilepsies includes several diagnostic levels (steps): 1) from seizure type to epilepsy type (generalized/focal/combined generalized and focal/unknown), 2) diagnosis of epilepsy syndrome 3) etiology (genetic/ structural/ infectious/ metabolic/ immune/unknown). A clinician can use any level of the classification. Operational classification of seizure types is replaced by the previous classification that was grounded on the anatomical basis...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28802899/a-species-dependent-response-to-the-pro-epileptic-drug-pentylentetrazole-in-birds
#11
Faiq Amin, Asim H Dar, Khan Osama, Faezah Khan, Rida Mitha, Arsal Tharwani, Ghulam Haider, Prem Chand, Fazal M Arain
Epilepsy is common disorder that affects over 50 million people worldwide. Birds remain a promising yet largely under-explored model of epilepsy. This study reports the comparison of the response of two species of birds, Australian Parrots (APs) and Sparrows (SPs), to a pro-epileptic drug, Pentylenetetrazole (PTZ). PTZ injections caused myoclonic jerks (MCJs) and tonic clonic seizures (TCSs) in both species. The frequency of MCJs in APs was greater at the dose of 75mg/kg compared to both 50mg/kg and 25mg/kg while it was not significantly different in SPs...
August 9, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#12
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28767715/lafora-disease-in-miniature-wirehaired-dachshunds
#13
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A Minassian, Clare Rusbridge
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described...
2017: PloS One
https://www.readbyqxmd.com/read/28762753/migraine-in-mitochondrial-disorders-prevalence-and-characteristics
#14
Catello Vollono, Guido Primiano, Giacomo Della Marca, Anna Losurdo, Serenella Servidei
Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28758580/chromosomal-micro-aberration-in-a-saudi-family-with-juvenile-myoclonic-epilepsy
#15
Muhammad Imran Naseer, Adeel G Chaudhary, Sameera Sogaty, Mahmood Rasool, Sajjad Karim, Hans-Juergen Schulten, Fehmida Bibi, Peter Natesan Pushparaj, Hussein A Algahtani, Mohammad H Al-Qahtani
Epilepsy is genetically complex neurological disorder affecting millions of people of the world. Juvenile myoclonic epilepsy (JME) is a most common epilepsy syndromes that starts in the teen age group commonly between ages 12 and 18, and lasts into adulthood. Out of 14 people with epilepsy one suffer with JME. Myoclonic seizures and muscle twitching or uncontrolled jerking are the most common type of seizure in the people suffering with JME. To observe the novel CNVs involved in JME we investigated a Saudi family with nine siblings with one male and one female affected members...
July 31, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28738275/early-childhood-myoclonic-epilepsy-an-independent-genetic-generalized-epilepsy-with-myoclonic-seizures-as-the-main-seizure-type
#16
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences...
September 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28717435/psoriasis-bulbar-involvement-and-diarrhea-in-late-myoclonic-epilepsy-with-ragged-red-fibers-syndrome-due-to-the-m-8344a-g-trna-lys-mutation
#17
Josef Finsterer, Gabor Geza Kovacs
No abstract text is available yet for this article.
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28713279/antiepileptogenic-and-neuroprotective-effects-of-pergularia-daemia-on-pilocarpine-model-of-epilepsy
#18
Antoine K Kandeda, Germain S Taiwe, Fleur C O Moto, Gwladys T Ngoupaye, Gisele C N Nkantchoua, Jacqueline S K Njapdounke, Jean P O Omam, Simon Pale, Nadege Kouemou, Elisabeth Ngo Bum
In this study, we investigated antiepileptogenic and neuroprotective effects of the aqueous extract of Pergularia daemia roots (PDR) using in vivo and in vitro experimental models. In in vivo studies, status epilepticus caused by pilocarpine injection triggers epileptogenesis which evolves during about 1-2 weeks. After 2 h of status epilepticus, mice were treated during the epileptogenesis period for 7 days with sodium valproate and vitamin C (standards which demonstrated to alter epileptogenesis), or Pergularia daemia...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28712486/myoclonic-epilepsy-in-infancy-with-preceding-or-concurrent-afebrile-generalized-tonic-clonic-seizures-in-chinese-children
#19
Zhixian Yang, Hui Li, Jiao Xue, Ping Qian, Xiaoyan Liu, Yuehua Zhang
OBJECTIVE: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). METHODS: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients...
July 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28706399/comparative-effect-of-divided-doses-of-adult-solid-and-liquid-oral-formulations-of-antiepileptic-drugs-in-the-management-of-pediatric-epilepsy
#20
Ravi Prasad Nidanapu, Bascarane Tamijarassy, Subramanian Mahadevan, Batmanabane Gitanjali
OBJECTIVE: To compare the differences in the efficacy and safety of the commonly prescribed AEDs in the management of epilepsy in children when using divided doses of adult solid oral formulations (DDSF) with the liquid oral formulations (LFs). MATERIALS AND METHODS: Patients who had one or more seizures per month and prescribed with DDSF were recruited. Initially the patients were continued on DDSF for 4 months following which they were switched over to LF for the subsequent 4 months...
April 2017: Journal of Pharmacology & Pharmacotherapeutics
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