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Epileptic Disorders: International Epilepsy Journal with Videotape

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https://www.readbyqxmd.com/read/27910806/epilepsia-partialis-continua-aetiology-semiology-and-prognosis-in-a-spanish-adult-cohort
#1
Helena Bejr-Kasem, Jacint Sala-Padró, Manuel Toledo, Estevo Santamarina, Silvana Sarria, Montserrat Gonzalez-Cuevas, María Sueiras-Gil, Manolo Quintana, Xavier Salas-Puig
To describe the semiological features in patients suffering with Epilepsia Partialis Continua (EPC), also referred as Kozhevnikov syndrome and their relationship with aetiology, duration, and prognosis, as well as recurrence during follow-up. We analysed consecutive EPC patients diagnosed and followed in our centre over a seven-and-a half year period. We collected demographic and clinical data, along with neuroimaging and EEG recordings. All patients were followed for more than six months. Patients were categorised with single body area or multiple body area involvement according to the body parts affected...
December 2, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27900945/articles-with-video-sequences-published-in-2016
#2
(no author information available yet)
No abstract text is available yet for this article.
November 29, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27900944/amoxicillin-a-potential-epileptogenic-drug
#3
João Raposo, Rute Teotónio, Conceição Bento, Francisco Sales
Beta-lactams are known to cause a wide spectrum of neurotoxic manifestations including epileptic seizures. The neurotoxicity of penicillin was first reported in 1945 by Johnson and Walker and is believed to exert an inhibitory effect on gamma-aminobutyric acid transmission of cortical pyramidal cells, due to its beta-lactam ring structure. Epileptogenicity is also a feature of the semisynthetic beta-lactams including aminopenicillins. In this report, we present a patient with a recurrent history of discrete body twitching/jerks of epileptic nature in the context of amoxicillin exposure...
November 29, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818371/ictal-spect-is-useful-in-localizing-the-epileptogenic-zone-in-infants-with-cortical-dysplasia
#4
Martin Kudr, Pavel Krsek, Bruno Maton, Stephen Malone, Alena Jahodova, Vladimir Komarek, Prasanna Jayakar, Michael Duchowny
AIMS: To assess the localizing value of ictal SPECT in very young epilepsy surgery candidates when cerebral haemodynamic responses are known to be immature. METHODS: We retrospectively studied 13 infants with intractable focal epilepsy caused by focal cortical dysplasia (FCD). Completeness of resection of the (1) ictal SPECT hyperperfusion zone and (2) cerebral cortex with prominent ictal and interictal abnormalities on intracranial EEG (ECoG or long-term invasive monitoring) and the MRI lesion, when present, were correlated with postoperative seizure outcome...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818370/can-diffusion-weighted-imaging-be-used-as-a-tool-to-predict-seizures-in-patients-with-pleds
#5
Jaishree Narayanan
It is unclear which patients with PLEDs will have associated seizures and therefore will need to be treated aggressively with antiepileptic medications. We present a prospective observational study of ten consecutive non-anoxic patients with PLEDs based on continuous 24-hour EEG monitoring. According to the EEG, five of the patients had seizures associated with PLEDs and five had PLEDs but no seizures. The aetiology included: neoplasm (n=1), cortical dysplasia (n=1), acute head trauma (n=1), encephalomalacia related to healed abscess (n=1), intra-parenchymal haemorrhage (n=1), and no structural lesion (n=5)...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818368/psychogenic-non-epileptic-seizures
#6
Robert C Doss, W Curt LaFrance
Psychogenic non-epileptic seizures (PNES) are diagnosed in at least 10-40% of the patients seen for long-term monitoring of epilepsy, and it is no surprise that patients with PNES are often treated for epilepsy. Given the substantial economic costs and mental health burden of misdiagnosis, it is imperative to establish early identification, correct diagnosis, and effective treatment of PNES in order to provide the greatest opportunity for remission of events, improved psychological functioning, and social-vocational outcome...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818367/varied-responses-to-benzodiazepine-treatment-in-cephalosporin-related-generalized-periodic-discharges
#7
Hung-Yu Liu, Chien-Chen Chou, Der-Jen Yen, Hsiang-Yu Yu
Although benzodiazepines (BZDs) are used as the first-line treatment for status epilepticus, previous studies have shown inconsistent responses to BZDs in patients with cephalosporin-related non-convulsive status epilepticus. In this study, we investigated nine patients with cephalosporin-related impaired consciousness and their EEGs all showed generalized periodic discharges (GPDs). One of the patients received repetitive BZD injections without discontinuing cephalosporins, and neither his clinical symptoms nor GPDs on EEG responded to BZDs...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818366/aicardi-syndrome-epilepsy-surgery-as-a-palliative-treatment-option-for-selected-patients-and-pathological-findings
#8
Irina Podkorytova, Ajay Gupta, Elaine Wyllie, Ahsan Moosa, William Bingaman, Richard Prayson, Elia M Pestana Knight
The optimal treatment for medically refractory epilepsy in Aicardi syndrome (AS) is still unclear. Palliative surgical treatment, including vagus nerve stimulation and corpus callosotomy, has therefore been used. There is limited data on the role of resective epilepsy surgery as a treatment choice in patients with AS. Here, we describe the seizures, anatomo-pathological findings, and neurodevelopmental outcome of palliative epilepsy surgery in two children with AS who had resective epilepsy surgery at the Cleveland Clinic...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818364/might-the-olfactory-bulb-be-an-origin-of-olfactory-auras-in-focal-epilepsy
#9
Harvey B Sarnat, Laura Flores-Sarnat
Olfactory auras (phantosmia) are an infrequent phenomenon in complex focal seizures generated in the mesial temporal lobe. It is generally assumed that all such auras arise from epileptic foci in the entorhinal cortex, amygdala or rostral insula, all of which have major afferent projections from the olfactory bulb or mainly from its relay, the anterior olfactory nucleus. The histological morphology, synaptic circuitry, and foetal development of the olfactory bulb are unique. The olfactory system is the only special sensory system that does not project to the thalamus because its bulb and tract incorporate an intrinsic thalamic equivalent: axonless granular and periglomerular neurons and the anterior olfactory nucleus...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27818363/antiepileptic-drug-adherence-and-persistence-in-children-with-epilepsy-attending-a-large-tertiary-care-children-s-hospital
#10
Yon-Kyong Lee, Young-Mi Ah, Yun Jung Choi, Yoon Sook Cho, Ki Joong Kim, Ju-Yeun Lee
We aimed to evaluate antiepileptic drug treatment persistence and adherence in paediatric epilepsy patients and investigate the association between medication-taking behaviours and clinical outcome. Medical and prescription records of newly treated paediatric epilepsy patients, aged 1-18 years who initiated antiepileptic drug monotherapy in a tertiary teaching hospital, were retrospectively reviewed. The rates of overall treatment, non-persistence, a treatment gap >60 days, and adherence, as measured by a medication possession ratio ≥0...
November 4, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27702709/lafora-disease
#11
Julie Turnbull, Erica Tiberia, Pasquale Striano, Pierre Genton, Stirling Carpenter, Cameron A Ackerley, Berge A Minassian
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen. Polyglucosans, or Lafora bodies (LB) are typically found in the brain, periportal hepatocytes of the liver, skeletal and cardiac myocytes, and in the eccrine duct and apocrine myoepithelial cells of sweat glands...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27702708/neurophysiology-of-myoclonus-and-progressive-myoclonus-epilepsies
#12
Giuliano Avanzini, Hiroshi Shibasaki, Guido Rubboli, Laura Canafoglia, Ferruccio Panzica, Silvana Franceschetti, Mark Hallett
The high temporal resolution of neurophysiological recordings makes them particularly suited to faithfully describing the time course of rapid events such as myoclonus and to precisely measure its time relationship with other related activities. In progressive myoclonus epilepsies (PMEs) polygraphy with simultaneous EMG-EEG recordings is a crucial tool for defining the characteristic of myoclonic jerks their topography over different muscles (namely antagonists), their time course and relationship with vigilance muscle activation and stimulations...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27694067/progressive-myoclonus-epilepsy-the-gene-empowered-era
#13
Berge A Minassian, Pasquale Striano, Giuliano Avanzini
No abstract text is available yet for this article.
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27647482/spinal-muscular-atrophy-associated-with-progressive-myoclonus-epilepsy
#14
Haluk Topaloglu, Judith Melki
A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMA-PME), has been described in childhood and is inherited as an autosomal recessive trait. SMA-PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27630083/post-modern-therapeutic-approaches-for-progressive-myoclonus-epilepsy
#15
Berge A Minassian
While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood, and extremely difficult-to-correct, neural network of the brain is affected. This last article reviews the latest cutting edge technologies in monogenic disease therapy, with some examples provided applicable to a number of disease...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27629998/myoclonus-and-seizures-in-progressive-myoclonus-epilepsies-pharmacology-and-therapeutic-trials
#16
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Eva Andermann, Reetta Kälviäinen, Pierre Genton
Generalized motor seizures, usually tonic-clonic, tonic-vibratory, myoclonic or clonic, and stimulus-sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27629860/myoclonus-epilepsy-and-ataxia-due-to-potassium-channel-mutation-meak-is-caused-by-heterozygous-kcnc1-mutations
#17
Fábio A Nascimento, Danielle M Andrade
Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK - myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage-gated potassium channels)...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27629772/kctd7-related-progressive-myoclonus-epilepsy
#18
Patrick Van Bogaert
Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy. Patients typically show an initial severe epileptic disorder, with abundant epileptiform discharges on EEG and myoclonic seizures in the foreground, associated with cognitive regression and ataxia. Continuous multifocal myoclonus aggravated by action is observed in more than half of the cases...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27629553/neuronal-ceroid-lipofuscinoses
#19
Dragos A Nita, Sara E Mole, Berge A Minassian
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27621198/sialidoses
#20
Silvana Franceschetti, Laura Canafoglia
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as "cherry red spot-myoclonus syndrome" develop myoclonic epilepsy, visual impairment and ataxia in the second or third decade of life. The diagnosis is usually suggested by increased urinary bound sialic acid excretion...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
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