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https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#1
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/28540186/novel-recessive-mutations-in-coq4-cause-severe-infantile-cardiomyopathy-and-encephalopathy-associated-with-coq10-deficiency
#2
Neal Sondheimer, Stacy Hewson, Jessie M Cameron, Gino R Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B Naini
Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired function of CoQ10-dependent complexes I, II and III. The recessively transmitted CoQ10 deficiency has been associated with a number of phenotypically and genetically heterogeneous groups of disorders manifesting at variable age of onset. The infantile, multisystemic presentation is usually caused by mutations in genes directly involved in CoQ10 biosynthesis...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28540130/corpora-amylacea-mimicking-low-grade-glioma-and-manifesting-as-a-seizure-case-report
#3
Seung J Lee, Minsu Kim, Carlito Lagman, Timothy T Bui, William H Yong, Isaac Yang
BACKGROUND: Corpora amylacea (CA) are accumulations of polyglucosan bodies typically found in astrocytic foot processes, and rarely, can mimic neoplasm. CA accumulation has also been associated with seizure disorders. We report the first case of a histologically confirmed intracranial, intraparenchymal CA lesion mimicking a low-grade glioma and manifesting as a seizure. CASE DESCRIPTION: A 43-year-old man presented after a general tonic-clonic (GTC) seizure. Brain magnetic resonance imaging (MRI) revealed a small lesion in the right mesial temporal lobe with radiologic features of a low-grade glioma...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28539852/abnormal-brain-connectivity-spectrum-disorders-following-thimerosal-administration-a-prospective-longitudinal-case-control-assessment-of-medical-records-in-the-vaccine-safety-datalink
#4
David A Geier, Janet K Kern, Kristin G Homme, Mark R Geier
BACKGROUND: Autism spectrum disorder (ASD), tic disorder (TD), and hyperkinetic syndrome of childhood (attention deficit disorder [ADD]/attention deficit hyperactivity disorder [ADHD]) are disorders recently defined as abnormal connectivity spectrum disorders (ACSDs) because they show a similar pattern of abnormal brain connectivity. This study examines whether these disorders are associated with exposure to thimerosal, a mercury (Hg)-based preservative. METHODS: A hypothesis testing case-control study evaluated the Vaccine Safety Datalink for the potential dose-dependent odds ratios (ORs) for diagnoses of ASD, TD, and ADD/ADHD compared to controls, following exposure to Hg from thimerosal-containing Haemophilus influenzae type b vaccines administrated within the first 15 months of life...
January 2017: Dose-response: a Publication of International Hormesis Society
https://www.readbyqxmd.com/read/28538134/trial-of-cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#5
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright
BACKGROUND: The Dravet syndrome is a complex childhood epilepsy disorder that is associated with drug-resistant seizures and a high mortality rate. We studied cannabidiol for the treatment of drug-resistant seizures in the Dravet syndrome. METHODS: In this double-blind, placebo-controlled trial, we randomly assigned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive either cannabidiol oral solution at a dose of 20 mg per kilogram of body weight per day or placebo, in addition to standard antiepileptic treatment...
May 25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28537461/an-extensive-review-on-development-of-eeg-based-computer-aided-diagnosis-systems-for-epilepsy-detection
#6
Jagriti Saini, Maitreyee Dutta
Epilepsy is considered as fourth most prominent neurological disorder in the world that can affect people of all age groups. Currently, around 65 million people throughout the world are suffering from epilepsy. It is evident that electroencephalograph (EEG) signals are most commonly used for detection of epileptic seizures but today many modern techniques have been developed to analyze underlying features of these EEG signals. As EEG contains a large amount of complicated information, so many researchers are trying to develop automatic systems for complete feature extraction...
May 24, 2017: Network: Computation in Neural Systems
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#7
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28532713/electroencephalography-after-a-single-unprovoked-seizure
#8
REVIEW
Derek B Debicki
Electroencephalography (EEG) is an essential diagnostic tool in the evaluation of seizure disorders. In particular, EEG is used as an additional investigation for a single unprovoked seizure. Epileptiform abnormalities are related to seizure disorders and have been shown to predict recurrent unprovoked seizures (i.e., a clinical definition of epilepsy). Thus, the identification of epileptiform abnormalities after a single unprovoked seizure can inform treatment options. The current review addresses the relationship between EEG abnormalities and seizure recurrence...
April 25, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28532711/psychiatric-comorbidities-in-new-onset-epilepsy-should-they-be-always-investigated
#9
REVIEW
Andres M Kanner
The new definition of epilepsy establishes that epilepsy is not only a disorder presenting with epileptic seizures but it can be often associated with cognitive and psychiatric comorbidities. In fact, the prevalence of psychiatric comorbidities is relatively high in patients with epilepsy (PWE), as one in three patients will have experienced a psychiatric disorder in the course of their life, with mood and anxiety disorders being the most frequent. Psychiatric comorbidities often precede the onset of the seizure disorder, and affect the life of these patients and the course of the seizure disorder at several levels, including a worse tolerance of pharmacotherapy with antiepileptic drugs (AEDs), in particular the development of iatrogenic psychiatric symptoms from pharmacologic and surgical treatments, an increased mortality risk, a worse quality of life and higher economic burdens of the patient, family and society as a hole...
April 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28532172/cranio-spinal-rosai-dorfman-disease-case-series-and-literature-review
#10
Shashank S Joshi, Shilpa Joshi, Girish Muzumdar, Keki E Turel, Rajan M Shah, Indoo Ammbulkar, Muhammad Masood Hussain, Kishor A Choudhari
Rosai-Dorfman disease (RDD) is a rare condition similar to lymphomas, presenting with cervical lymphadenopathy in young adults. Extra-nodal involvement is relatively common but involvement of the central nervous system (CNS) is rare. Cranial RDD presents with symptoms of raised intracranial pressure, focal or generalised seizures, while spinal RDD presents with pain, peripheral neurological deficits and radiculopathy. In contrast to other similar neoplastic or degenerative conditions affecting the CNS, RDD is a benign, non-infective, granulomatous disorder...
May 22, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28528187/anticonvulsant-activity-of-pseudospondias-microcarpa-a-rich-engl-hydroethanolic-leaf-extract-in-mice-the-role-of-excitatory-inhibitory-neurotransmission-and-nitric-oxide-pathway
#11
Donatus W Adongo, Priscilla K Mante, Kennedy K E Kukuia, Robert P Biney, Eric Boakye-Gyasi, Charles K Benneh, Elvis O Ameyaw, Eric Woode
ETHNOPHARMACOLOGICAL RELEVANCE: Pseudospondias microcarpa (A. Rich) Engl. is a plant used for managing various diseases including central nervous system disorders. AIM OF THE STUDY: This study explored the anticonvulsant activity of P. microcarpa hydroethanolic leaf extract (PME) as well as possible mechanism(s) of action in animal models. METHODS: Effects of PME was assessed in electroconvulsive (the maximal electroshock and 6-Hz seizures) and chemoconvulsive (pentylenetetrazole-, picrotoxin-, isoniazid-, 4-aminopyridine-, and strychnine-induced seizures) models of epilepsy...
May 17, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28527647/correlation-between-plasma-homocysteine-levels-and-craving-in-alcohol-dependent-stabilized-patients
#12
Maurizio Coppola, Raffaella Mondola
BACKGROUND & AIMS: Homocysteine is a sulfur amino acid strictly related with alcohol consumption. In alcoholics, hyperhomocysteinemia can increase the risk of various alcohol-related disorders such as: brain atrophy, epileptic seizures during withdrawal, and mood disorders. OBJECTIVE: To evaluate the correlation among serum homocysteine concentrations, craving, hazardous and harmful patterns of alcohol consumption in patients stabilized for withdrawal symptoms. METHODS: Participants were adult outpatients accessed at the Addiction Treatment Unit...
May 6, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#13
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527083/shared-mechanisms-of-epilepsy-migraine-and-affective-disorders
#14
Davide Zarcone, Simona Corbetta
Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism. From studies of disease incidence, we understand how either migraine among patients with epilepsy or epilepsy among migraine patients are more frequent than in the general population. This association may result from a direct causality, by the same environmental risk factors and/or by a common genetic susceptibility...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#15
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28524225/-how-must-we-manage-epileptic-encephalopathies-in-infants-conclusions
#16
V Soto-Insuga
Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#17
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28522734/voluntary-control-of-epileptiform-spike-wave-discharges-in-awake-rats
#18
Jeremy A Taylor, Krista M Rodgers, Florencia M Bercum, Carmen J Booth, F Edward Dudek, Daniel S Barth
Genetically inherited absence epilepsy in humans is typically characterized by brief (seconds) spontaneous seizures, which involve spike-wave discharges (SWDs) in the EEG and interruption of consciousness and ongoing behavior. Genetic (inbred) models of this disorder in rats have been used to examine mechanisms, comorbidities and anti-absence drugs. SWDs have also been proposed as models of complex partial seizures (CPSs) following traumatic brain injury (post-traumatic epilepsy; PTE). However, the ictal characteristics of these rat models, including SWDs and associated immobility, are also prevalent in healthy outbred laboratory rats...
May 17, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28522348/the-impact-of-genetic-and-experimental-studies-on-classification-and-therapy-of-the-epilepsies
#19
REVIEW
Giuliano Avanzini, Massimo Mantegazza, Benedetta Terragni, Laura Canafoglia, Paolo Scalmani, Silvana Franceschetti
Different types of epilepsy are associated with gene mutations, in which seizures can be the only symptom (genetic epilepsies) or be one of the elements of complex clinical pictures that are often progressive over time (epileptic or epileptogenic encephalopathies). In epileptogenic encephalopathies, epileptic seizures and other neurological and cognitive signs are symptoms of genetically determined neuropathological or neurochemical disorders. In epileptic encephalopathies, epileptic activity itself is thought to contribute to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone...
May 15, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28521671/the-anticonvulsant-effects-of-ketogenic-diet-on%C3%A2-epileptic-seizures-and-potential-mechanisms
#20
Yifan Zhang, Jingwei Xu, Yingchao Zhang, Wei Yang, Bingjin Li
Epilepsy is one of the most commonly diagnosed neurologic disorders with characteristics of epileptic seizures. Although the multitude of anticonvulsant drugs has been developed, recurrent epileptic seizures remain intractable and contribute to the serious morbidity worldwide. Recently, increasing studies have established the beneficial effects of ketogenic diet (KD) on epileptic seizure reduction. Both basic experiments and clinical trials demonstrated that KD significantly reduced seizure frequency with mild adverse effects...
May 17, 2017: Current Neuropharmacology
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