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Myoclonic epilepsy

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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
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28704743/sleep-abnormalities-in-juvenile-myoclonic-epilepsy-a-sleep-questionnaire-and-polysomnography-based-study
#5
Sujata Roshan, Vinod Puri, Neera Chaudhry, Anu Gupta, Sumit Kumar Rabi
PURPOSE: To evaluate the quality of sleep, its architecture and occurrence of epileptiform discharges with their distribution across various stages of sleep in patients of Juvenile myoclonic epilepsy (JME), both drug naïve as well as those already on treatment. METHODS: 99 patients of JME [36 drug naïve, 63 on antiepileptic drug(s) (AED)], and 30 healthy controls were recruited. Sleep quality and daytime sleepiness were evaluated with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS), respectively...
June 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28697467/smoking-prevalence-and-seizure-control-in-chinese-males-with-epilepsy
#6
Hui Gao, Josemir W Sander, Xudong Du, Jiani Chen, Cairong Zhu, Dong Zhou
Smoking has a negative effect on most diseases, yet it is under-investigated in people with epilepsy; thus its role is not clear in the general population with epilepsy. We performed a retrospective pilot study on males with epilepsy to determine the smoking rate and its relationship with seizure control using univariate analysis to calculate odds ratios (ORs) and also used a multi-variate logistic regression model. The smoking rate in our sample of 278 individuals was 25.5%, which is lower than the general Chinese population smoking rate among males of 52...
July 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28692462/utility-of-skin-biopsy-in-a-case-of-progressive-myoclonic-epilepsy
#7
Travis Frantz, Erica Fortson, Lindsay C Strowd
No abstract text is available yet for this article.
May 18, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28688853/gpr37l1-modulates-seizure-susceptibility-evidence-from-mouse-studies-and-analyses-of-a-human-gpr37l1-variant
#8
Michelle M Giddens, Jennifer C Wong, Jason P Schroeder, Emily G Farrow, Brilee M Smith, Sharon Owino, Sarah E Soden, Rebecca C Meyer, Carol Saunders, J B LePichon, David Weinshenker, Andrew Escayg, Randy A Hall
Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c...
July 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#9
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686997/management-of-epilepsy-in-merrf-syndrome
#10
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported...
June 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28673533/successful-corpus-callosotomy-for-doose-syndrome
#11
Sotaro Kanai, Tohru Okanishi, Mitsuyo Nishimura, Kentaro Iijima, Takuya Yokota, Tomohiro Yamazoe, Ayataka Fujimoto, Hideo Enoki, Takamichi Yamamoto
Doose syndrome (epilepsy with myoclonic-atonic seizures) is an epilepsy syndrome with an incidence of approximately 1-2% of childhood-onset epilepsies. Although this syndrome is associated with multiple types of generalized seizures, the diagnosis is based on the presence of myoclonic-atonic seizures. Eighteen percent of patients have refractory seizures and intellectual disabilities. There have, however, been a few reports on the efficacy of surgical treatment for Doose syndrome. We describe a case of Doose syndrome in a 10-year-old boy...
June 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/28664031/large-scale-structural-alteration-of-brain-in-epileptic-children-with-scn1a-mutation
#12
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko
OBJECTIVE: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28663785/case-report-novel-mutations-in-tbc1d24-are-associated-with-autosomal-dominant-tonic-clonic-and-myoclonic-epilepsy-and-recessive-parkinsonism-psychosis-and-intellectual-disability
#13
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M Claasen, Sampathkumar Rangasamy, Matthew J Huentelman, David W Craig, Philippe M Campeau, Vinodh Narayanan, Isabelle Schrauwen
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c...
2017: F1000Research
https://www.readbyqxmd.com/read/28654830/analysis-of-variations-of-correlation-dimension-and-nonlinear-interdependence-for-the-prediction-of-pediatric-myoclonic-seizures-a-preliminary-study
#14
Mohamad Amin Sharifi Kolarijani, Susan Amirsalari, Mohsen Reza Haidari
In this preliminary study, we evaluated the predictive ability of Correlation Dimension (CD) and Nonlinear Interdependence (NI) for seizures in pediatric myoclonic epilepsy patients. Scalp EEG recordings of eight diagnosed cases of myoclonic epilepsy were analyzed using Receiver Operating Curve (ROC) for discriminating the preictal period from interictal period. Furthermore, based on clinical seizure characteristics and EEG data, the spatiotemporal patterns of measures in clinically relevant areas of the brain were compared with other areas for each patient...
June 17, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#15
Bruna Priscila Dos Santos, Chiara Rachel Maciel Marinho, Thalita Ewellyn Batista Sales Marques, Layanne Kelly Gomes Angelo, Maísa Vieira da Silva Malta, Marcelo Duzzioni, Olagide Wagner de Castro, João Pereira Leite, Fabiano Timbó Barbosa, Daniel Leite Góes Gitaí
BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality...
2017: PloS One
https://www.readbyqxmd.com/read/28632327/photosensitivity-is-an-early-marker-of-neuronal-ceroid-lipofuscinosis-type-2-disease
#16
Nicola Specchio, Marcello Bellusci, Nicola Pietrafusa, Marina Trivisano, Luca de Palma, Federico Vigevano
OBJECTIVE: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes. METHODS: Retrospective clinical chart review of a series of patients diagnosed with CLN2 disease from 2005 to 2015 at a single center in Italy. Clinical, MRI, and EEG findings were reviewed...
June 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#17
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#18
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28617265/a-case-of-fulminant-subacute-sclerosing-panencephalitis-presenting-with-acute-myoclonic-astatic-epilepsy
#19
Fabio Magurano, Gian Luca Marella, Antonella Marchi, Antonietta Filia, Luigi Tonino Marsella, Saverio Potenza, Roberto Massa, Paola Bucci, Melissa Baggieri, Loredana Nicoletti
The neurologic sequelae post-measles are less common than other complications measles-related and can lead to severe disability or death: primary measles encephalitis (PME), acute post-infectious measles encephalomyelitis (APME), measles inclusion body encephalitis (MIBE), and subacute sclerosing panencephalitis (SSPE). SSPE syndrome can affect people years from the acute measles virus infection, as result of the persistence of defective viral particles in brain cells. Clinical onset typically manifests with progressive intellectual deterioration, behavioral changes, and myoclonic jerks...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28602636/extensive-phenotyping-of-two-arx-polyalanine-expansion-mutation-mouse-models-that-span-clinical-spectrum-of-intellectual-disability-and-epilepsy
#20
Matilda R Jackson, Kristie Lee, Tessa Mattiske, Emily J Jaehne, Ezgi Ozturk, Bernhard T Baune, Terence J O'Brien, Nigel Jones, Cheryl Shoubridge
The Aristaless-related homeobox gene (ARX) is a known intellectual disability (ID) gene that frequently presents with X-linked infantile spasm syndrome as a comorbidity. ID with epilepsy in children is a chronic and devastating disorder that has poor treatment options and disease outcomes. To gain a better understanding of the role that mutations in ARX play in ID and epilepsy, we investigate ARX patient mutations modelled in mice. Over half of all ARX mutations result from expansions of the first two polyalanine (PA1 and PA2 respectively) tracts...
June 8, 2017: Neurobiology of Disease
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