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Kyra Doumlele, Erin Conway, Julie Hedlund, Patricia Tolete, Orrin Devinsky
West Syndrome is characterized by infantile spasms, a hypsarrhythmic electroencephalogram (EEG) pattern, and a poor neurodevelopmental prognosis. First-line treatments include adrenocorticotrophic hormone (ACTH) and vigabatrin, but adverse effects often limit their use. CPP-115 is a high-affinity vigabatrin analogue developed to increase therapeutic potency and to limit retinal toxicity. Here, we present a child treated with CPP-115 through an investigational new drug protocol who experienced a marked reduction of seizures with no evidence of retinal dysfunction...
2016: Epilepsy & Behavior Case Reports
Anthony S Kim, Ellen Moffatt, Philip C Ursell, Orrin Devinsky, Jeffrey Olgin, Zian H Tseng
OBJECTIVE: To characterize the frequency of and risk factors for out-of-hospital sudden neurologic deaths. METHODS: During the initial 25 months (February 1, 2011-March 1, 2013) of the San Francisco Postmortem Systematic Investigation of Sudden Cardiac Death Study, we captured incident WHO criteria sudden cardiac deaths (SCDs) through active surveillance of consecutive out-of-hospital deaths, which must be reported to the medical examiner by law. All cases were referred for full autopsy with detailed examination of the heart and cranial vault, toxicology, and histology...
October 18, 2016: Neurology
Orrin Devinsky, Dale C Hesdorffer, David J Thurman, Samden Lhatoo, George Richerson
Sudden unexpected death in epilepsy (SUDEP) can affect individuals of any age, but is most common in younger adults (aged 20-45 years). Generalised tonic-clonic seizures are the greatest risk factor for SUDEP; most often, SUDEP occurs after this type of seizure in bed during sleep hours and the person is found in a prone position. SUDEP excludes other forms of seizure-related sudden death that might be mechanistically related (eg, death after single febrile, unprovoked seizures, or status epilepticus). Typically, postictal apnoea and bradycardia progress to asystole and death...
September 2016: Lancet Neurology
Rachel Webster, Megan T Cho, Kyle Retterer, Francisca Millan, Catherine Nowak, Jessica Douglas, Ayesha Ahmad, Gerald V Raymond, Maria R Johnson, Aurora Pujol, Amber Begtrup, Dianalee McKnight, Orrin Devinsky, Wendy K Chung
Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have been identified on the X chromosome, including KIAA2022. KIAA2022 is located on Xq13.3 and is expressed in the developing brain. The protein product of KIAA2022, X-linked Intellectual Disability Protein Related to Neurite Extension (XPN), is developmentally regulated and is involved in neuronal migration and cell adhesion. The clinical manifestations of loss-of-function KIAA2022 mutations have been described previously in fifteen males, born from unaffected carrier mothers, but few females...
August 28, 2016: Clinical Genetics
Monika Pietrzyńska, Joanna Zembrzuska, Rafał Tomczak, Jakub Mikołajczyk, Danuta Rusińska-Roszak, Adam Voelkel, Tomasz Buchwald, Josef Jampílek, Miloš Lukáč, Ferdinand Devínsky
A method based on experimental and in silico evaluations for investigating interactions of organic phosphates and phosphonates with hydroxyapatite was developed. This quick and easy method is used for determination of differences among organophosphorus compounds of various structures in their mineral binding affinities. Empirical sorption evaluation was carried out using liquid chromatography with tandem mass spectrometry or UV-VIS spectroscopy. Raman spectroscopy was used to confirm sorption of organic phosphates and phosphonates on hydroxyapatite...
October 10, 2016: European Journal of Pharmaceutical Sciences
Eliska Vaculikova, Aneta Cernikova, Daniela Placha, Martin Pisarcik, Pavlina Peikertova, Katerina Dedkova, Ferdinand Devinsky, Josef Jampilek
Nanoparticles can be considered as a useful tool for improving properties of poorly soluble active ingredients. Hydrochlorothiazide (Class IV of the Biopharmaceutical Classification System) was chosen as a model compound. Antisolvent precipitation-solvent evaporation and emulsion solvent evaporation methods were used for preparation of 18 samples containing hydrochlorothiazide nanoparticles. Water solutions of surfactants sodium dodecyl sulfate, Tween 80 and carboxymethyl dextran were used in mass concentrations of 1%, 3% and 5%...
2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Farras Abdelnour, Ashish Raj, Orrin Devinsky, Thomas Thesen
The two most common types of temporal lobe epilepsy are medial temporal sclerosis epilepsy (TLE-MTS) and MRI-normal temporal lobe epilepsy (TLE-no). TLE-MTS is specified by its stereotyped focus and spread pattern of neuronal damage, with pronounced neuronal loss in the hippocampus. TLE-no exhibits normal-appearing hippocampus and more widepsread neuronal loss. In both cases neuronal loss spread appears to be constrained by the white matter connections. Both varieties of epilepsy reveal pathological abnormalities in increased mean diffusivity (MD)...
July 13, 2016: Brain Connectivity
Orrin Devinsky, Martin A Samuels
No abstract text is available yet for this article.
September 2016: Annals of Neurology
Anny Reyes, Thomas Thesen, Xiuyuan Wang, Daniel Hahn, Daeil Yoo, Ruben Kuzniecky, Orrin Devinsky, Karen Blackmon
OBJECTIVE: We assessed whether presurgical resting state functional magnetic resonance imaging (fMRI) provides information for distinguishing temporal lobe epilepsy (TLE) with mesial temporal sclerosis (TLE-MTS) from TLE without MTS (TLE-noMTS). METHODS: Thirty-four patients with TLE and 34 sex-/age-matched controls consented to a research imaging protocol. MTS status was confirmed by histologic evaluation of surgical tissue (TLE-MTS = 16; TLE-noMTS = 18). The fractional amplitude of low-frequency fluctuations (fALFFs) in the blood oxygen level-dependent (BOLD) resting-state fMRI signal, a marker of local metabolic demand at rest, was averaged at five regions of interest (ROIs; hippocampus, amygdala, frontal, occipital, and temporal lobe), along with corresponding volume and cortical thickness estimates...
September 2016: Epilepsia
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Natalia Dolzhanskaya, Eric Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T Myers, Wim van Paesschen, Pasquale Striano, Koen van Gassen, Marjan van Kempen, Carolien G F de Kovel, Juliette Piard, Berge A Minassian, Marjan M Nezarati, André Pessoa, Aurelia Jacquette, Bridget Maher, Simona Balestrini, Sanjay Sisodiya, Marie Therese Abi Warde, Anne De St Martin, Jamel Chelly, Ruben van 't Slot, Lionel Van Maldergem, Eva H Brilstra, Bobby P C Koeleman
BACKGROUND: Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. METHODS: Reported females were selected for genetic testing because of substantial developmental problems and/or epilepsy. X-inactivation and expression studies were performed when possible...
June 29, 2016: Journal of Medical Genetics
Wayne E Mackey, Orrin Devinsky, Werner K Doyle, John G Golfinos, Clayton E Curtis
The neural mechanisms that support working memory (WM) depend on persistent neural activity. Within topographically organized maps of space in dorsal parietal cortex, spatially selective neural activity persists during WM for location. However, to date, the necessity of these topographic subregions of human parietal cortex for WM remains unknown. To test the causal relationship of these areas to WM, we compared the performance of patients with lesions to topographically organized parietal cortex with those of controls on a memory-guided saccade (MGS) task as well as a visually guided saccade (VGS) task...
September 1, 2016: Journal of Neurophysiology
Kanwaljit Singh, Yash D Shah, Daniel Luciano, Daniel Friedman, Orrin Devinsky, Sanjeev V Kothare
INTRODUCTION: Perampanel is an AMPA receptor antagonist recently approved for the treatment of partial and generalized epilepsies with tonic-clonic seizures as an add-on therapy. METHODS: This single-center postmarketing study retrospectively evaluated the efficacy of perampanel in patients with partial onset and other seizure types, with a special emphasis on its efficacy, safety, and tolerability. RESULTS: Review of medical records revealed that adequate data were available on 101 patients taking perampanel...
August 2016: Epilepsy & Behavior: E&B
Samden D Lhatoo, Maromi Nei, Manoj Raghavan, Michael Sperling, Bilal Zonjy, Nuria Lacuey, Orrin Devinsky
OBJECTIVE: To describe the phenomenology of monitored sudden unexpected death in epilepsy (SUDEP) occurring in the interictal period where death occurs without a seizure preceding it. METHODS: We report a case series of monitored definite and probable SUDEP where no electroclinical evidence of underlying seizures was found preceding death. RESULTS: Three patients (two definite and one probable) had SUDEP. They had a typical high SUDEP risk profile with longstanding intractable epilepsy and frequent generalized tonic-clonic seizures (GTCS)...
July 2016: Epilepsia
Daniel Friedman, Alison Thaler, Jonathan Thaler, Samhitha Rai, Edwin Cook, Carolyn Schanen, Orrin Devinsky
PURPOSE: To ascertain the cause of mortality and incidence of sudden unexpected death in epilepsy (SUDEP) in patients with supernumerary isodicentric chromosome 15 (idic15). METHODS: Cases were obtained from those reported to the Dup15q Alliance ( between April 2006 and June 2012; ~709 families were registered in their database. We performed a case-control study comparing reported SUDEP cases to living patients with epilepsy from the Dup15q Alliance registry who volunteered to be interviewed to examine clinical risk factors...
August 2016: Epilepsy & Behavior: E&B
Janice Y Chyou, Daniel Friedman, Marina Cerrone, William Slater, Yu Guo, Daniel Taupin, Sean O'Rourke, Silvia G Priori, Orrin Devinsky
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of epilepsy-related mortality. We hypothesized that electrocardiography (ECG) features may distinguish SUDEP cases from living subjects with epilepsy. Using a matched case-control design, we compared ECG studies of 12 consecutive cases of SUDEP over 10 years and 22 epilepsy controls matched for age, sex, epilepsy type (focal, generalized, or unknown/mixed type), concomitant antiepileptic, and psychotropic drug classes. Conduction intervals and prevalence of abnormal ventricular conduction diagnosis (QRS ≥110 msec), abnormal ventricular conduction pattern (QRS <110 msec, morphology of incomplete right or left bundle branch block or intraventricular conduction delay), early repolarization, and features of inherited cardiac channelopathies were assessed...
July 2016: Epilepsia
Ladislav Habala, Jindra Valentová, Iveta Pechová, Mária Fuknová, Ferdinand Devínsky
Synthetic cannabinoids as designer drugs constitute a major problem due to their rapid increase in number and the difficulties connected with their identification in complex mixtures. DART (Direct Analysis in Real Time) has emerged as an advantageous tool for the direct and rapid analysis of complex samples by mass spectrometry. Here we report on the identification of six synthetic cannabinoids originating from seized material in various matrices, employing the combination of ambient pressure ion source DART and hybrid ion trap - LTQ ORBITRAP mass spectrometer...
May 2016: Legal Medicine
Jennifer N Gelinas, Dion Khodagholy, Thomas Thesen, Orrin Devinsky, György Buzsáki
Interactions between the hippocampus and the cortex are critical for memory. Interictal epileptiform discharges (IEDs) identify epileptic brain regions and can impair memory, but the mechanisms by which they interact with physiological patterns of network activity are mostly undefined. We show in a rat model of temporal lobe epilepsy that spontaneous hippocampal IEDs correlate with impaired memory consolidation, and that they are precisely coordinated with spindle oscillations in the prefrontal cortex during nonrapid-eye-movement (NREM) sleep...
June 2016: Nature Medicine
Taylor A Wilson, Shaun Rodgers, Omar Tanweer, Prateek Agarwal, Bryan A Lieber, Nitin Agarwal, Michael McDowell, Orrin Devinsky, Howard Weiner, David H Harter
INTRODUCTION: Tuberous sclerosis complex (TSC) has an incidence of 1/6000 in the general population. Overall care may be complex and costly. We examine trends in health care utilization and outcomes of patients with TSC over the last decade. METHODS: The National Inpatient Sample (NIS) database for inpatient hospitalizations was searched for admission of patients with TSC. RESULTS: During 2000-2010, the NIS recorded 5655 patients with TSC...
July 2016: World Neurosurgery
Wayne E Mackey, Orrin Devinsky, Werner K Doyle, Michael R Meager, Clayton E Curtis
A dominant theory, based on electrophysiological and lesion evidence from nonhuman primate studies, posits that the dorsolateral prefrontal cortex (dlPFC) stores and maintains working memory (WM) representations. Yet, neuroimaging studies have consistently failed to translate these results to humans; these studies normally find that neural activity persists in the human precentral sulcus (PCS) during WM delays. Here, we attempt to resolve this discrepancy. To test the degree to which dlPFC is necessary for WM, we compared the performance of patients with dlPFC lesions and neurologically healthy controls on a memory-guided saccade task that was used in the monkey studies to measure spatial WM...
March 9, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Dimitrios Arkilo, Orrin Devinsky, Basanagoud Mudigoudar, Susana Boronat, Melanie Jennesson, Kenneth Sassower, Okeanis Eleni Vaou, Jason T Lerner, Shafali Spurling Jeste, Kadi Luchsinger, Ronald Thibert
Our objective was to define the EEG features during sleep of children with neurodevelopmental disorders due to copy number gains of 15q11-q13 (Dup15q). We retrospectively reviewed continuous EEG recordings of 42 children with Dup15q (mean age: eight years, 32 with idic15), and data collected included background activity, interictal epileptiform discharges, sleep organization, and ictal activity. Three patterns were recognized: Pattern 1: Alpha–delta sleep was noted in 14 children (33%), not associated with any clinical changes...
April 2016: Epilepsy & Behavior: E&B
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