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https://www.readbyqxmd.com/read/29213033/-epigenetic-modifications-of-chromatin-in-epilepsy-a-potential-mechanism-of-pharmacoresistance
#1
L S Sokhranyaeva, V A Aniol, N V Gulyaeva
Pharmacoresistance in epilepsy is an important problem from both clinical and fundamental perspectives. The existent hypotheses of pharmacoresistance are based on long term plastic rebuilding of the epileptic brain. One of potential mechanisms mediating such protracted changes are alterations of gene expression induced by epigenetic modifications of chromatin in brain cells of epileptic patients. Recently, changes in DNA methylation and histone post-translational modifications were reported in brain tissues of patients with pharmacoresistant epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29195226/the-viral-hypothesis-of-mesial-temporal-lobe-epilepsy-is-human-herpes-virus-6-the-missing-link-a-systematic-review-and-meta-analysis
#2
P Wipfler, N Dunn, O Beiki, E Trinka, A Fogdell-Hahn
PURPOSE: Mesial temporal lobe epilepsy (MTLE) is a common epileptic disorder. Although likely multifactorial, the mechanisms underlying the etiology and pathogenesis of the disease remains unknown in majority of patients. Viruses, particularly Human Herpes Virus 6A and B (HHV-6), two neurotropic herpes viruses, have been implicated in MTLE due to their ubiquitous nature and ability to establish lifelong latency with risk of reactivation. However, the results of studies investigating this relationship are conflicting...
November 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29187863/smooth-an-hnrnp-l-homolog-might-decrease-mitochondrial-metabolism-by-post-transcriptional-regulation-of-isocitrate-dehydrogenase-idh-and-other-metabolic-genes-in-the-sub-acute-phase-of-traumatic-brain-injury
#3
Arko Sen, Katherine Gurdziel, Jenney Liu, Wen Qu, Oluwademi O Nuga, Rayanne B Burl, Maik Hüttemann, Roger Pique-Regi, Douglas M Ruden
Traumatic brain injury (TBI) can cause persistent pathological alteration of neurons. This may lead to cognitive dysfunction, depression and increased susceptibility to life threatening diseases, such as epilepsy and Alzheimer's disease. To investigate the underlying genetic and molecular basis of TBI, we subjected w1118Drosophila melanogaster to mild closed head trauma and found that mitochondrial activity is reduced in the brains of these flies 24 h after inflicting trauma. To determine the transcriptomic changes after mild TBI, we collected fly heads 24 h after inflicting trauma, and performed RNA-seq analyses...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29171123/investigation-of-known-genetic-mutations-of-arabian-horses-in-egyptian-arabian-foals-with-juvenile-idiopathic-epilepsy
#4
M Aleman, C J Finno, K Weich, M C T Penedo
BACKGROUND: The carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown. HYPOTHESIS/OBJECTIVES: To determine the carrier status of LFS, CA, SCID, and OAAM1 in foals with JIE. ANIMALS: Ten foals with JIE. MATERIALS AND METHODS: Archived DNA samples were tested for known genetic mutations causing LFS, CA, SCID, and OAAM1...
November 24, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29156319/large-scale-analysis-of-herpesviridae-in-epilepsy-patients-with-signs-of-autoimmune-encephalitis
#5
Freya Poulheim, Laura Esposito, Christian E Elger, Anna M Eis-Hübinger, Albert J Becker, Pitt Niehusmann
PURPOSE: Epilepsy is one of the most common primary brain disorders. Nonparaneoplastic autoimmune encephalitis is increasingly recognized as an important cause of adult onset epilepsy. However, only in rare cases an initiating factor of the syndrome can be identified. Autoantibody detection after central nervous herpesvirus infection indicates a postviral etiology in a subgroup of patients. In order to analyze a possible underrecognition of postinfectious autoimmunity we performed a large-scale analysis of herpesvirus DNA in cerebrospinal fluid samples from patients with clinical signs of autoimmune encephalitis...
November 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#6
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29120117/is-apolipoprotein-e-%C3%AE%C2%B52-associated-with-delayed-onset-of-non-lesional-temporal-lobe-epilepsy
#7
Davor Sporiš, Silvio Bašić, Jadranka Sertić, Darija Mahović Lakušić, Tomislav Babić
The aim of the study was to evaluate the possible association between Apo E polymorphisms and age at seizure onset in patients with non-lesional temporal lobe epilepsy. Eighty patients with non-lesional temporal lobe epilepsy with or without bilateral tonic-clonic propagation were analyzed. Age at seizure onset was defined as age at the first unequivocal seizure (excluding febrile convulsions). ApoE alleles were determined by a procedure where genome DNA was amplified by chain reaction along with polymerase, using the LightCycler kit (Roche) for ApoE mutations on codons 112 and 158...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29108277/exome-sequencing-identified-a-novel-missense-mutation-c-464g-a-p-g155d-in-ca-2-binding-protein-4-cabp4-in-a-chinese-pedigree-with-autosomal-dominant-nocturnal-frontal-lobe-epilepsy
#8
Zhi-Hong Chen, Chun Wang, Mu-Qing Zhuo, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang, Juan Gui, Zhi-Hong Tang, Xiao-Lu Zeng
The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA samples were collected from 15 family members, chinese han people, including seven affected and eight unaffected individuals. None of these patients had night blindness or visual disorders. Four affected individuals were screened for mutations using whole-exome sequencing, and 13 potentially interesting mutations shared by all the four affected individuals were validated using the Sanger sequencing method...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29058119/comprehensive-molecular-characterisation-of-epilepsy-associated-glioneuronal-tumours
#9
Thomas J Stone, Angus Keeley, Alex Virasami, William Harkness, Martin Tisdall, Elisa Izquierdo Delgado, Alice Gutteridge, Tony Brooks, Mark Kristiansen, Jane Chalker, Lisa Wilkhu, William Mifsud, John Apps, Maria Thom, Mike Hubank, Tim Forshew, J Helen Cross, Darren Hargrave, Jonathan Ham, Thomas S Jacques
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification...
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29054413/a-2-bp-deletion-in-the-mitochondrial-atp-6-gene-responsible-for-the%C3%A2-narp-neuropathy-ataxia-and-retinitis-pigmentosa-syndrome
#10
Patrick Mordel, Stéphane Schaeffer, Quentin Dupas, Marie-Alice Laville, Marion Gérard, Françoise Chapon, S Allouche
Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%)...
December 9, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29032416/non-attendance-of-vulnerable-populations-within-epilepsy-outpatient-services-in-ireland
#11
A Haque, C Doherty, J Williams
BACKGROUND: Outpatient non-attendance is a prevalent issue that contributes to significant wasted clinical resources and can be influenced by a number of complex factors. AIMS: The aim of this study is to characterize "did not attend" (DNA) rates in three identified subpopulations of epilepsy patients to determine if current care provision models suffice. METHODS: In this study, we identified all patients residing in social housing, in residential care, and those incarcerated who have been offered appointments by our service...
October 14, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28954305/novel-mutations-in-the-nkx2-1-gene-and-the-pax8-gene-in-a-boy-with-brain-lung-thyroid-syndrome
#12
Pia Hermanns, Małgorzata Kumorowicz-Czoch, Helmut Grasberger, Samuel Refetoff, Joachim Pohlenz
Objective To elucidate the molecular mechanism which causes thyroid dysgenesis (TD) in a boy with brain-lung-thyroid syndrome. Design, patients, measurements We describe a patient with TD, respiratory disease and cerebral palsy who is heterozygous for mutations in two different genes, the PAX8 (p.E234K) and the NKX2.1 (p.A329GfsX108). In vitro studies were performed to functionally characterize these mutations. Congenital hypothyroidism (CH) was identified by neonatal screening associated with a hypoplastic thyroid gland...
September 27, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28911200/homozygous-eef1a2-mutation-causes-dilated-cardiomyopathy-failure-to-thrive-global-developmental-delay-epilepsy-and-early-death
#13
Siqi Cao, Laura L Smith, Sergio R Padilla-Lopez, Brandon S Guida, Elizabeth Blume, Jiahai Shi, Sarah U Morton, Catherine A Brownstein, Alan H Beggs, Michael C Kruer, Pankaj B Agrawal
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans. We report a pair of siblings carrying a homozygous missense mutation p...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28872899/two-novel-variants-affecting-cdkl5-transcript-associated-with-epileptic-encephalopathy
#14
Jana Neupauerová, Katalin Štěrbová, Markéta Vlčková, Věra Sebroňová, Tat'ána Maříková, Marcela Krůtová, Staněk David, Pavel Kršek, Markéta Žaliová, Pavel Seeman, Petra Laššuthová
BACKGROUND: Variants in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been reported as being etiologically associated with early infantile epileptic encephalopathy type 2 (EIEE2). We report on two patients, a boy and a girl, with EIEE2 that present with early onset epilepsy, hypotonia, severe intellectual disability, and poor eye contact. METHODS: Massively parallel sequencing (MPS) of a custom-designed gene panel for epilepsy and epileptic encephalopathy containing 112 epilepsy-related genes was performed...
October 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28864458/optimizing-genomic-medicine-in-epilepsy-through-a-gene-customized-approach-to-missense-variant-interpretation
#15
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The challenge is, given the DNA sequence of a new patient, to distinguish disease-causing from benign variants. Large samples of human standing variation data highlight regional variation in the tolerance to missense variation within the protein-coding sequence of genes...
October 2017: Genome Research
https://www.readbyqxmd.com/read/28846756/prevalence-of-pathogenic-copy-number-variation-in-adults-with-pediatric-onset-epilepsy-and-intellectual-disability
#16
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
November 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28811861/importance-of-distinguishing-between-mitochondrial-encephalomyopathy-with-elderly-onset-of-stroke-like-episodes-and-cerebral-infarction
#17
Syuichi Tetsuka, Asako Tagawa, Tomoko Ogawa, Mieko Otsuka, Ritsuo Hashimoto, Hiroyuki Kato
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28792706/lack-of-association-between-slc6a11-genetic-polymorphisms-and-drug-resistant-epilepsy-in-chinese-han-population
#18
Y Y Xie, J Qu, L Zhou, N Lv, J E Gong, Y Z Cao, L L Long, H Y Long, B Xiao
BACKGROUND: Epilepsy is one of the most common chronic neurological diseases. A recent study has implicated that the genetic variants of the SLC6A11 gene encoding GAT-3, an astrocytic GABA transporter, may influence the efficacy of antiepileptic drugs (AEDs) in the Korean population. METHODS: This study aims to investigate the possible associations between SLC6A11 gene and drug resistance in Chinese epilepsy patients. Genomic DNA from 240 drug resistant epilepsy (DRE) patients and 336 drug responsive epilepsy patients was tested for the polymorphisms using Illumina GoldenGate assay...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28777852/-application-of-chromosome-microarray-analysis-in-489-children-with-developmental-delay-intellectual-disability
#19
Rongyue Wang, Tingying Lei, Fang Fu, Ru Li, Xiangyi Jing, Xin Yang, Min Pan, Dongzhi Li, Can Liao
OBJECTIVE: To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of developmental delay/intellectual disability (DD/ID). METHODS: A total of 489 children referred for DD/ID with or without other abnormalities were recruited. All patients showed a normal karyotype. DNA was extracted and hybridized with Affymetrix CytoScan 750K array by following the manufacturer's protocol. The data was analyzed with CHAS v2.0 software. RESULTS: The children were classified as with isolated DD/ID (n=358), DD/ID with epilepsy (n=49), and DD/ID with other structural anomalies (n=82)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28765170/herpes-simplex-virus-type-1-and-alzheimer-s-disease-possible-mechanisms-and-signposts
#20
REVIEW
Ruth F Itzhaki
Support for the concept that herpes simplex virus type 1 (HSV1), when present in the brains of apolipoprotein E-ε4 carriers, is a major risk for Alzheimer's disease (AD) is increasing steadily, with over 120 publications providing direct or indirect evidence relevant to the hypothesis. No articles have contested the concept, apart from 3 published 13-18 yr ago. This review describes very recent studies on the role of HSV1 but refers also to older studies that provide background for some lesser-known related topics not covered in other recent reviews; these include the relevance of herpes simplex encephalitis and of epilepsy to AD, the action of IFN, and the possible relevance of the different types of DNA damage to AD-in particular, those caused by HSV1-and mechanisms of repair of damage...
August 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
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