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https://www.readbyqxmd.com/read/28649495/non-hyperammonaemic-valproate-encephalopathy-after-20%C3%A2-years-of-treatment
#1
Elizabeth Caruana Galizia, Jeremy D Isaacs, Hannah R Cock
Sodium valproate is a commonly used antiseizure drug with broad indications for different seizuretypes and epilepsy syndromes. Well-recognised side effects include weight gain, tremor, dizziness, and unsteadiness. Non-hyperammonaemic parkinsonism, with or without cognitive impairment, is a rare adverse effect of sodium valproate. We present the case of a sixty year-old lady with a generalized seizure disorder, treated with phenytoin, valproate, lamotrigine and clonazepam. Following withdrawal of phenytoin she developed an akinetic-rigid syndrome, with ataxia and marked cognitive impairment...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28649286/autism-spectrum-disorder-and-epileptic-encephalopathy-common-causes-many-questions
#2
REVIEW
Siddharth Srivastava, Mustafa Sahin
Epileptic encephalopathies represent a particularly severe form of epilepsy, associated with cognitive and behavioral deficits, including impaired social-communication and restricted, repetitive behaviors that are the hallmarks of autism spectrum disorder (ASD). With the advent of next-generation sequencing, the genetic landscape of epileptic encephalopathies is growing and demonstrates overlap with genes separately implicated in ASD. However, many questions remain about this connection, including whether epileptiform activity itself contributes to the development of ASD symptomatology...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#3
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28644911/interictal-oscillations-and-focal-epileptic-disorders
#4
Maxime Lévesque, Pariya Salami, Zahra Shiri, Massimo Avoli
Neuronal network oscillations represent a main feature of the brain activity recorded in the EEG under normal and pathological conditions such as epilepsy. Specific oscillations occur between seizures in patients and in animal models of focal epilepsy, and thus they are termed interictal. According to their shape and intrinsic signal frequency, interictal oscillations are classified as spikes and high frequency oscillations (HFOs). Interictal spikes are recorded in the "wideband" EEG signal and consist of large-amplitude events that usually last less than 1 s; HFOs, in contrast, are extracted by amplifying the appropriately filtered EEG signal, and are usually categorized as ripples (80-200 Hz) and fast ripples (250-500 Hz)...
June 23, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28644353/extraintestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#5
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. METHODS: We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28643814/-unresponsive-wakefulness-syndrome-clinical-predictors-of-late-recovery
#6
Gianfranco Lamberti, Elena Antoniono, Francesca Gozzerino, Donatella Giraudo
Patients affected by the outcomes of serious traumatic and/or non-traumatic brain injury may show progressive recovery characterized by a broad spectrum of clinical conditions, which are often not completely different, but of differing seriousness. The unresponsive wakefulness syndrome (UWS) and minimally conscious state (MCS) are syndromes that may characterize progression from the coma state and may be temporary clinical conditions, or in some cases, the final outcome of acute brain injury. The eventual recovery of consciousness is a dynamic process, in constant progress following the acute event...
May 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/28643274/an-unexplained-congenital-disorder-of-glycosylation-ii-in-a-child-with-neurohepatic-involvement-hypercholesterolemia-and-hypoceruloplasminemia
#7
Pier Luigi Calvo, Marco Spada, Ivana Rabbone, Michele Pinon, Francesco Porta, Fabio Cisarò, Stefania Reggiani, Angelo B Cefalù, Luisella Sturiale, Domenico Garozzo, Dirk J Lefeber, Jaak Jaeken
We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect...
June 23, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28638591/replicable-in-vivo-physiological-and-behavioral-phenotypes-of-the-shank3b-null-mutant-mouse-model-of-autism
#8
Sameer C Dhamne, Jill L Silverman, Chloe E Super, Stephen H T Lammers, Mustafa Q Hameed, Meera E Modi, Nycole A Copping, Michael C Pride, Daniel G Smith, Alexander Rotenberg, Jacqueline N Crawley, Mustafa Sahin
BACKGROUND: Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous condition characterized by social, repetitive, and sensory behavioral abnormalities. No treatments are approved for the core diagnostic symptoms of ASD. To enable the earliest stages of therapeutic discovery and development for ASD, robust and reproducible behavioral phenotypes and biological markers are essential to establish in preclinical animal models. The goal of this study was to identify electroencephalographic (EEG) and behavioral phenotypes that are replicable between independent cohorts in a mouse model of ASD...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28633043/de-novo-12q22-q23-3-duplication-associated-with-temporal-lobe-epilepsy
#9
Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara
PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients...
June 15, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28632525/clozapine-safety-and-efficacy-for-interictal-psychotic-disorder-in-pharmacoresistant-epilepsy
#10
Vincent Jetté Pomerleau, François Dubeau, Simon Ducharme
Since the middle of the 19th century, both neurologists and psychiatrists have linked psychosis and epilepsy. Clozapine, the most effective antipsychotic drug, alters electroencephalographic activity and carries a significant risk of causing seizures. Unfortunately, this risk limits the drug's potential use in treating pharmacoresistant psychosis in patients with epilepsy. We present a unique case in which we used clozapine successfully as a last resort treatment for chronic interictal psychosis in a 43-year-old woman with severe pharmacoresistant epilepsy and recurrent status epilepticus...
June 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28630376/functional-connectivity-disturbances-of-the-ascending-reticular-activating-system-in-temporal-lobe-epilepsy
#11
Dario J Englot, Pierre-Francois D'Haese, Peter E Konrad, Monica L Jacobs, John C Gore, Bassel W Abou-Khalil, Victoria L Morgan
OBJECTIVE: Seizures in temporal lobe epilepsy (TLE) disturb brain networks and lead to connectivity disturbances. We previously hypothesised that recurrent seizures in TLE may lead to abnormal connections involving subcortical activating structures including the ascending reticular activating system (ARAS), contributing to neocortical dysfunction and neurocognitive impairments. However, no studies of ARAS connectivity have been previously reported in patients with epilepsy. METHODS: We used resting-state functional MRI recordings in 27 patients with TLE (67% right sided) and 27 matched controls to examine functional connectivity (partial correlation) between eight brainstem ARAS structures and 105 cortical/subcortical regions...
June 19, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28629418/prenatal-brain-disruption-in-isolated-sulfite-oxidase-deficiency
#12
Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai, Hung-Chieh Chen, I-Chun Lee
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a very rare autosomal recessive inherited neurometabolic disease. The most striking postnatal neuroimaging finding is multicystic encephalomalacia, which occurs rapidly within days to weeks after birth and mimics severe hypoxic-ischemic encephalopathy. The aim of this study was to describe the prenatal neuroimaging features in a neonate and a fetus diagnosed with ISOD. RESULTS: We report an 11-day-old female neonate who presented with feeding difficulties, decreased activity, neonatal seizures, and movement disorders within a few days after birth...
June 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28626029/a-homozygous-founder-mutation-in-trappc6b-associates-with-a-neurodevelopmental-disorder-characterised-by-microcephaly-epilepsy-and-autistic-features
#13
Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson
BACKGROUND: Transport protein particle (TRAPP) is a multisubunit complex that regulates membrane trafficking through the Golgi apparatus. The clinical phenotype associated with mutations in various TRAPP subunits has allowed elucidation of their functions in specific tissues. The role of some subunits in human disease, however, has not been fully established, and their functions remain uncertain. OBJECTIVE: We aimed to expand the range of neurodevelopmental disorders associated with mutations in TRAPP subunits by exome sequencing of consanguineous families...
June 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28624721/assessing-the-role-of-serotonergic-receptors-in-cannabidiol-s-anticonvulsant-efficacy
#14
Madeline C Pelz, Kathleen D Schoolcraft, Chloe Larson, Mitchell G Spring, Hassan H López
Cannabidiol (CBD) is a phytocannabinoid that has demonstrated anticonvulsant efficacy in several animal models of seizure. The current experiment validated CBD's anticonvulsant effect using the acute pentylenetetrazol (PTZ) model. Furthermore, it tested whether CBD reduces seizure activity by interacting with either the serotonergic 5HT1A or 5HT2A receptor. 120 male adolescent Wistar-Kyoto rats were randomly assigned to 8 treatment groups in two consecutive experiments. In both experiments, subjects received either CBD (100mg/kg) or vehicle 60min prior to seizure testing...
June 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28623751/epilepsy-and-stigmatization-in-turkey
#15
Ozge Doganavsargil-Baysal, Buket Cinemre, Yesim Senol, Ebru Barcin, Zehra Gokmen
Patients with epilepsy experience stigmatization quite often. Studies investigating stigmatization perceived by patients with epilepsy in Turkey are limited in number. In this study, we aimed to understand the relationship between stigmatization and psychopathology and also to identify the effects of stigmatization on the quality of life in epilepsy. Patients completed a socio-demographical data form and epilepsy information form. They were evaluated in terms of psychiatric diagnosis using SCID I and they were asked to complete SCL-90 R, Epilepsy Stigmatization Scale and SF 36...
June 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#16
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28622127/prevalence-of-sleep-disordered-breathing-during-routine-electroencephalogram-eeg-a-hospital-based-descriptive-study
#17
Rajesh P Poothrikovil, Abdullah Al Asmi, Ramachandiran Nandhagopal, Mohammed Al Abri
Sleep-disordered breathing (SDB) in adults is a common condition that is associated with a range of medical problems including hypertension, cardiovascular complications, and increase of seizure frequency in susceptible individuals. Polysomnography (PSG) is considered the gold standard measure in the diagnosis of SDB. This is an observational study on the frequency of SDB in adult patients referred for routine EEG. We found that routine EEG was capable of detecting moderate to severe symptoms of SDB in 14% of adult patients (95% confidence interval = 8...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28620909/pregabalin-and-heart-failure-a-population-based-study
#18
Joanne M-W Ho, Erin M Macdonald, Jin Luo, Tara Gomes, Tony Antoniou, Muhammad M Mamdani, David N Juurlink
PURPOSE: The anticonvulsant pregabalin is increasingly prescribed for pain, seizures, and psychiatric disorders. Although evidence suggests pregabalin can cause edema and heart failure, its cardiac safety profile in clinical practice is unknown. We sought to examine the risk of heart failure among older patients receiving pregabalin compared to those receiving gabapentin. METHODS: We conducted a population-based cohort study of Ontarians aged 66 and older with a history of seizure who received pregabalin or gabapentin between April 2013 and March 2014...
June 16, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28620074/regulatory-bc1-rna-in-cognitive-control
#19
Anna Iacoangeli, Aderemi Dosunmu, Taesun Eom, Dimitre G Stefanov, Henri Tiedge
Dendritic regulatory BC1 RNA is a non-protein-coding (npc) RNA that operates in the translational control of gene expression. The absence of BC1 RNA in BC1 knockout (KO) animals causes translational dysregulation that entails neuronal phenotypic alterations including prolonged epileptiform discharges, audiogenic seizure activity in vivo, and excessive cortical oscillations in the γ frequency band. Here we asked whether BC1 RNA control is also required for higher brain functions such as learning, memory, or cognition...
July 2017: Learning & Memory
https://www.readbyqxmd.com/read/28619500/was-cavum-septum-pellucidum-the-cause-of-intractable-seizure-in-this-17-years-old-boy-with-wilson-s-disease
#20
Asifur Rahman, Saif Ul Haque, Paawan Bahadur Bhandari, Shamsul Alam
BACKGROUND: Cavum Septum Pellucidum (CSP), which are often found incidentally in a small number of populations, rarely, become symptomatic if enlarged significantly. Wilson's disease (WD) is an uncommon, autosomal recessive, inborn defect in copper metabolism characterized by abnormal accumulation of copper in various tissues, particularly in the liver and the brain. Seizure disorder, though rare both in CSP and WD, may happen in a very small percentage of patients in either of the two...
June 12, 2017: World Neurosurgery
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