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https://www.readbyqxmd.com/read/28334860/genetic-regulation-of-gene-expression-in-the-epileptic-human-hippocampus
#1
Nasir Mirza, Richard Appleton, Sasha Burn, Daniel du Plessis, Roderick Duncan, Jibril Osman Farah, Bjarke Feenstra, Anders Hviid, Vivek Josan, Rajiv Mohanraj, Arif Shukralla, Graeme J Sills, Anthony G Marson, Munir Pirmohamed
Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocampal tissue to include not only normal (n = 22) but also epileptic (n = 22) samples. We demonstrate that disease-associated variants from an epilepsy GWAS meta-analysis and a febrile seizures (FS) GWAS are significantly more enriched with epilepsy-eQTLs than with normal hippocampal eQTLs from two larger independent published studies...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#2
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334226/loss-of-cannabinoid-cb-1-receptors-induces-cortical-migration-malformations-and-increases-seizure-susceptibility
#3
Javier Díaz-Alonso, Adán de Salas-Quiroga, Juan Paraíso-Luna, Daniel García-Rincón, Patricia P Garcez, Maddy Parsons, Clara Andradas, Cristina Sánchez, François Guillemot, Manuel Guzmán, Ismael Galve-Roperh
Neuronal migration is a fundamental process of brain development, and its disruption underlies devastating neurodevelopmental disorders. The transcriptional programs governing this process are relatively well characterized. However, how environmental cues instruct neuronal migration remains poorly understood. Here, we demonstrate that the cannabinoid CB 1 receptor is strictly required for appropriate pyramidal neuron migration in the developing cortex. Acute silencing of the CB 1 receptor alters neuronal morphology and impairs radial migration...
October 5, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/28330942/primary-angiitis-of-the-central-nervous-system-magnetic-resonance-imaging-spectrum-of-parenchymal-meningeal-and-vascular-lesions-at-baseline
#4
Grégoire Boulouis, Hubert de Boysson, Mathieu Zuber, Loïc Guillevin, Eric Meary, Vincent Costalat, Christian Pagnoux, Olivier Naggara
BACKGROUND AND PURPOSE: Primary angiitis of the central nervous system remains challenging. To report an overview and pictorial review of brain magnetic resonance imaging findings in adult primary angiitis of the central nervous system and to determine the distribution of parenchymal, meningeal, and vascular lesions in a large multicentric cohort. METHODS: Adult patients from the French COVAC cohort (Cohort of Patients With Primary Vasculitis of the Central Nervous System), with biopsy or angiographically proven primary angiitis of the central nervous system and brain magnetic resonance imaging available at the time of diagnosis were included...
March 22, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28330876/electrocorticographic-dynamics-as-a-novel-biomarker-in-five-models-of-epileptogenesis
#5
Dan Z Milikovsky, Itai Weissberg, Lyna Solomon-Kamintsky, Kristina Lippmann, Osnat Schefenbauer, Federica Frigerio, Massimo Rizzi, Liron Sheintuch, Daniel Zelig, Jonathan Ofer, Annamaria Vezzani, Alon Friedman
Post injury epilepsy (PIE) is a devastating sequela of various brain insults. While recent studies offer novel insights into the mechanisms underlying epileptogenesis and discover potential preventive treatments, the lack of PIE biomarkers hinders the clinical implementation of such treatments. Here we explored the biomarker potential of different electrographic features in five models of PIE. Electrocorticographic or intrahippocampal recordings of epileptogenesis (from the insult to the first spontaneous seizure) from two laboratories were analyzed in 3 mouse and 2 rat PIE models...
March 22, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28329842/magnetic-resonance-imaging-reveals-progressive-brain-injury-in-rats-acutely-intoxicated-with-diisopropylfluorophosphate
#6
Brad A Hobson, Sílvia Sisó, Douglas J Rowland, Danielle J Harvey, Donald A Bruun, Joel R Garbow, Pamela J Lein
Acute intoxication with organophosphates (OPs) can trigger seizures that progress to status epilepticus, and survivors often exhibit chronic neuropathology, cognitive impairment, affective disorders and/or electroencephalographic abnormalities. Understanding how acute injury transitions to persistent neurological sequelae is critical to developing medical countermeasures for mitigating damage following OP-induced seizures. Here, we used in vivo magnetic resonance imaging (MRI) to monitor the spatiotemporal patterns of neuropathology for one month after acute intoxication with diisopropylfluorophosphate (DFP)...
March 7, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28327899/thirty-day-readmission-rates-following-deep-brain-stimulation-surgery
#7
Ashwin G Ramayya, Kalil G Abdullah, Arka N Mallela, John T Pierce, Jayesh Thawani, Dmitry Petrov, Gordon H Baltuch
BACKGROUND: Deep brain stimulation (DBS) has emerged as a safe and efficacious surgical intervention for several movement disorders; however, the 30-day all-cause readmission rate associated with this procedure has not previously been documented. OBJECT: To perform a retrospective cohort study to estimate the 30-day all-cause readmission rate associated with DBS. METHODS: We reviewed medical records of patients over the age of 18 who underwent DBS surgery at Pennsylvania Hospital of the University of Pennsylvania between 2009 and 2014...
March 15, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28326016/early-origin-and-evolution-of-the-angelman-syndrome-ubiquitin-ligase-gene-ube3a
#8
REVIEW
Masaaki Sato
The human Ube3a gene encodes an E3 ubiquitin ligase and exhibits brain-specific genomic imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe mental retardation, speech impairment, seizure, ataxia and some unique behavioral phenotypes. In this review article, I highlight the evolution of the Ube3a gene and its imprinting to provide evolutionary insights into AS. Recent comparative genomic studies have revealed that Ube3a is most phylogenetically similar to HECTD2 among the human HECT (homologous to the E6AP carboxyl terminus) family of E3 ubiquitin ligases, and its distant evolutionary origin can be traced to common ancestors of fungi and animals...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#9
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325462/management-of-recurrent-subdural-hematomas
#10
REVIEW
Virendra R Desai, Robert A Scranton, Gavin W Britz
Subdural hematomas commonly recur after surgical evacuation, at a rate of 2% to 37%. Risk factors for recurrence can be patient related, radiologic, or surgical. Patient-related risk factors include alcoholism, seizure disorders, coagulopathy, and history of ventriculoperitoneal shunt. Radiologic factors include poor brain reexpansion postoperatively, significant subdural air, greater midline shift, heterogeneous hematomas (layered or multi-loculated), and higher-density hematomas. Surgical factors include lack of or poor postoperative drainage...
April 2017: Neurosurgery Clinics of North America
https://www.readbyqxmd.com/read/28324217/rare-slc1a1-variants-in-hot-water-epilepsy
#11
Kalpita Rashimi Karan, P Satishchandra, Sanjib Sinha, Anuranjan Anand
Hot water epilepsy is sensory epilepsy, wherein seizures are triggered by an unusual stimulus: contact with hot water. Although genetic factors contribute to the etiology of hot water epilepsy, molecular underpinnings of the disorder remain largely unknown. We aimed to identify the molecular genetic basis of the disorder by studying families with two or more of their members affected with hot water epilepsy. Using a combination of genome-wide linkage mapping and whole exome sequencing, a missense variant was identified in SLC1A1 in a three-generation family...
March 21, 2017: Human Genetics
https://www.readbyqxmd.com/read/28315958/brain-tumor-location-influences-the-onset-of-acute-psychiatric-adverse-events-of-levetiracetam-therapy-an-observational-study
#12
Vincenzo Belcastro, Laura Rosa Pisani, Silvio Bellocchi, Paolo Casiraghi, Gaetano Gorgone, Marco Mula, Francesco Pisani
To explore possible correlations among brain lesion location, development of psychiatric symptoms and the use of antiepileptic drugs (AEDs) in a population of patients with brain tumor and epilepsy. The medical records of 283 patients with various types of brain tumor (161 M/122 F, mean age 64.9 years) were analysed retrospectively. Patients with grade III and IV glioma, previous history of epileptic seizures and/or psychiatric disorders were excluded. Psychiatric symptoms occurring after initiation of AED therapy were considered as treatment emergent psychiatric adverse events (TE-PAEs) if they fulfilled the following conditions: (1) onset within 4 weeks after the beginning of AED therapy; (2) disappearance on drug discontinuation; (3) absence of any other identified possible concurrent cause...
March 18, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28315722/risk-mitigation-for-children-exposed-to-drugs-during-gestation-a-critical-role-for-animal-preclinical-behavioral-testing
#13
REVIEW
Irving Zucker
Many drugs with unknown safety profiles are administered to pregnant women, placing their offspring at risk. I assessed whether behavioral outcomes for children exposed during gestation to antidepressants, anxiolytics, anti-seizure, anti-nausea and sedative medications can be predicted by more extensive animal studies than are part of the FDA approval process. Human plus rodent data were available for only 8 of 33 CNS-active drugs examined. Similar behavioral and cognitive deficits, including autism and ADHD emerged in human offspring and in animal models of these disorders after exposure to fluoxetine, valproic acid, carbamazepine, phenytoin, phenobarbital, acetaminophen and ibuprofen...
March 15, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28315500/relation-between-sexual-dysfunctions-and-epilepsy-type-of-epilepsy-type-of-antiepileptic-drugs-a-prospective-study
#14
Carlo Pavone, Ninfa Giacalone, Lidia Urso, Leila Zummo, Brigida Fierro
INTRODUCTION: The aim of this study was to evaluate the incidence of sexual dysfunctions in males with epilepsy, the type of epilepsy, the frequency of seizures, the type of antiepileptic drugs (AEDs), the serum hormonal profile and the presence of psychiatric comorbidity. METHODS: Sixty-one patients focused on type of epilepsy, frequency of seizures, AEDs, hormonal profile and presence of mood disorders. We excluded all patients with severe neurologic and psychiatric impairment and patient who were not able to fill questionnaires...
March 18, 2017: Urologia
https://www.readbyqxmd.com/read/28314521/orienting-reaction-may-help-recognition-of-patients-with-psychogenic-nonepileptic-seizures
#15
Murat Yalçın, Evrim Tellioğlu, Ayşegül Gündüz, Mine Özmen, Naz Yeni, Çiğdem Özkara, Meral E Kiziltan
OBJECTIVE: Psychogenic nonepileptic seizures (PNES) are abrupt, paroxysmal changes in behavior or consciousness that may phenomenologically resemble epileptic seizures. Given the known association between anxiety and PNES, we hypothesized that in these subjects there may be evidence that the nervous system is hypersensitive to external stimuli. We aimed to test our hypothesis by means of the auditory startle reaction (ASR). By investigating ASR, we also had the opportunity to test presence of orienting reaction, which is generally defined as the second phase of response after the auditory stimulus, with longer latency...
March 14, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28306571/cns-syndromes-associated-with-antibodies-against-metabotropic-receptors
#16
Eric Lancaster
PURPOSE OF REVIEW: Autoantibodies to Central nervous system (CNS) metabotropic receptors are associated with a growing family of autoimmune brain diseases, including encephalitis, basal ganglia encephalitis, Ophelia syndrome, and cerebellitis. The purpose of this review is to summarize the state of knowledge regarding the target receptors, the neurological autoimmune disorders, and the pathogenic mechanisms. RECENT FINDINGS: Antibodies to the γ-aminobutyric acid B receptor are associate with limbic encephalitis and severe seizures, often with small cell lung cancers...
March 16, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28303498/validation-of-a-preclinical-drug-screening-platform-for-pharmacoresistant-epilepsy
#17
Melissa L Barker-Haliski, Kristina Johnson, Peggy Billingsley, Jennifer Huff, Laura J Handy, Rizvana Khaleel, Zhenmei Lu, Matthew J Mau, Timothy H Pruess, Carlos Rueda, Gerald Saunders, Tristan K Underwood, Fabiola Vanegas, Misty D Smith, Peter J West, Karen S Wilcox
The successful identification of promising investigational therapies for the treatment of epilepsy can be credited to the use of numerous animal models of seizure and epilepsy for over 80 years. In this time, the maximal electroshock test in mice and rats, the subcutaneous pentylenetetrazol test in mice and rats, and more recently the 6 Hz assay in mice, have been utilized as primary models of electrically or chemically-evoked seizures in neurologically intact rodents. In addition, rodent kindling models, in which chronic network hyperexcitability has developed, have been used to identify new agents...
March 16, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28303420/aging-and-autism-spectrum-disorder-a-naturalistic-longitudinal-study-of-the-comorbidities-and-behavioral-and-neuropsychiatric-symptoms-in-adults-with-asd
#18
Elizabeth A Wise, Marcia D Smith, Peter V Rabins
Little is known about Autism Spectrum Disorder (ASD) in persons over age 50. In a retrospective, naturalistic review of 74 individuals aged 30 and older meeting DSM-5 criteria for ASD, the point prevalence of behavioral and neuropsychiatric symptoms (BNPS) declined significantly for 12 of 13 BNPS over a mean of 25 years while many other features of ASD remained stable. GI disorders (68.9%) and seizure disorders (23%) were common, and 25.7% of the sample had a BMI >30. Females were more likely to engage in screaming (p < 0...
March 16, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28302251/levetiracetam-induced-increase-in-creatine-phosphokinase-levels
#19
Naila Shahbaz, Syed Muneeb Younus, Sohaib Ahmed Khan, Qurrat -Ul- Ain, Mudassir Ahmed Khan, Mohammad Hassan Memon
Levetiracetam is an antiepileptic drug used for the treatment of generalised or partial seizures, either alone or in a combination therapy. Adverse effects have been reported with its clinical use, including headache, dizziness, liver failure etc. A rare but an important adverse effect is an increase in creatine phosphokinase (CPK) levels with its use. Herein, we present a case of 43-year male, known intravenous (IV) drug abuser with a history of decompressive craniotomy. Patient presented with severe behavioural disorder for which risperidone was given...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28300915/onychogryphosis-in-tuberous-sclerosis-complex-an-unusual-feature
#20
Xiang-Chun Han, Li-Qiang Zheng, Tie-Gang Zheng
Onychogryphosis is an acquired nail plate change. It often affects the toenail and is characterized by an opaque, yellow-brownish nail plate that is distorted, grossly thickened, elongated, and partly curved resembling a ram's horn. Tuberous sclerosis complex is a multisystem disorder associated with high rates of mental retardation, autism, cognitive impairment, behavioral problems, or seizures. Nail disease can also be associated, which is a concern to patients due to pain and nail distortion. We reported a typical tuberous sclerosis complex patient with distinctive clinical features of a ram's horn nails, which presented a great challenge to surgical treatment and nail restoration...
September 2016: Anais Brasileiros de Dermatologia
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