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https://www.readbyqxmd.com/read/28065824/variable-white-matter-atrophy-and-intellectual-development-in-a-family-with-x-linked-creatine-transporter-deficiency-despite-genotypic-homogeneity
#1
Nicole Heussinger, Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann
BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD...
October 17, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28058582/genome-wide-dna-methylation-patterns-analysis-of-noncoding-rnas-in-temporal-lobe-epilepsy-patients
#2
Wenbiao Xiao, Yuze Cao, Hongyu Long, Zhaohui Luo, Shuyu Li, Na Deng, Jianjian Wang, Xiaoyan Lu, Tianfeng Wang, Shangwei Ning, Lihua Wang, Bo Xiao
Temporal lobe epilepsy (TLE) is the most common form of adult epilepsy and frequently evolving drug resistance. Although there is growing consensus that noncoding ribonucleic acids (ncRNAs) are modulators of TLE, the knowledge about the deoxyribonucleic acid (DNA) methylation patterns of ncRNAs in TLE remains limited. In the current study, we constructed DNA methylation profiles from 30 TLE patients and 30 healthy controls for ncRNAs, primarily focusing on long ncRNAs (lncRNAs) and microRNAs (miRNAs), by reannotating data of DNA methylation BeadChip...
January 5, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28054742/evaluation-of-dna-damage-in-hepg2-cells-and-mutagenicity-of-garcinielliptone-fc-a-bioactive-benzophenone
#3
Lismare da Silva Prado, Juliana da Silva, Ana Letícia Hilario Garcia, Fernanda Brião Menezes Boaretto, Ivana Grivicich, Lucas Umpierre Conter, Aguisson de Oliveira Salvi, Flávio Henrique Reginatto, Suele Bierhals Vencato, Alexandre de Barros Falcão Ferraz, Jaqueline Nascimento Picada
Garcinielliptone FC (GFC) is a polyprenylated benzophenone isolated from the hexanic extract of Platonia insignis seeds with potential pharmacological effects on the central nervous system. In a pre-clinical study, this compound showed anticonvulsant action, becoming a candidate to treat epilepsy disorders. However, genotoxicological aspects of GFC should be known to ensure its safe use. This study investigated the cytotoxic, genotoxic and mutagenic effects of GFC. Cytotoxicity was evaluated using the colourimetric assay of MTT (3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide) in human hepatoma cells (HepG2) (2 - 100 μg/mL) for 3, 6 and 24 hr...
January 5, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytophaties-phenotypes
#4
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luisa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
December 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28005047/-the-diagnosis-of-idiopathic-epilepsy-in-children-based-on-the-algorithm-of-molecular-genetic-studies
#5
T V Kozhanova, S S Zhilina, S O Aivazyan, T V Anan'eva, A A Abramov, M S Belenikin, T I Meshcheryakova, G R Mutovin, N N Zavadenko
AIM: To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE). MATERIAL AND METHODS: The study of SCN1A gene by direct Sanger sequencing in 53 patients and targeted resequencing of the regions of 34 genes in 40 patients with different clinical forms of IE was performed. RESULTS: Seven mutations (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T, c.2427G>A and c...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27984807/braf-v600e-mutation-in-epilepsy-associated-glioneuronal-tumors-prevalence-and-correlation-with-clinical-features-in-a-chinese-population
#6
Yin-Xi Zhang, Chun-Hong Shen, Yi Guo, Yang Zheng, Jun-Ming Zhu, Yao Ding, Ye-Lei Tang, Shuang Wang, Mei-Ping Ding
PURPOSE: Glioneuronal tumors (GNTs) are the most common histological type of brain tumors in patients who received epilepsy surgery, and part of them presented with BRAF V600E mutation. We aimed to verify the presence of the BRAF V600E mutation in epilepsy-associated GNTs from Chinese population and evaluate the association with clinical features. METHODS: Data from 35 patients diagnosed with GNTs, including 24 gangliogliomas and 11 dysembryoplastic neuroepithelial tumors, were retrospectively collected...
December 9, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27976555/are-the-methylenetetrahydrofolate-reductase-1298-and-677-gene-polymorphisms-related-to-optic-glioma-and-hamartoma-risk-in-neurofibromatosis-type-1-patients
#7
Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27974645/dysregulated-mitophagy-and-mitochondrial-organization-in-optic-atrophy-due-to-opa1-mutations
#8
Chunyan Liao, Neil Ashley, Alan Diot, Karl Morten, Kanchan Phadwal, Andrew Williams, Ian Fearnley, Lyndon Rosser, Jo Lowndes, Carl Fratter, David J P Ferguson, Laura Vay, Gerardine Quaghebeur, Isabella Moroni, Stefania Bianchi, Costanza Lamperti, Susan M Downes, Kamil S Sitarz, Padraig J Flannery, Janet Carver, Eszter Dombi, Daniel East, Matilde Laura, Mary M Reilly, Heather Mortiboys, Remko Prevo, Michelangelo Campanella, Matthew J Daniels, Massimo Zeviani, Patrick Yu-Wai-Man, Anna Katharina Simon, Marcela Votruba, Joanna Poulton
OBJECTIVE: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. METHODS: Patients with severe DOA (DOA plus) had peripheral neuropathy, cognitive regression, and epilepsy in addition to loss of vision. We quantified mitophagy in dermal fibroblasts, using 2 high throughput imaging systems, by visualizing colocalization of mitochondrial fragments with engulfing autophagosomes...
December 14, 2016: Neurology
https://www.readbyqxmd.com/read/27903967/new-differentially-expressed-genes-and-differential-dna-methylation-underlying-refractory-epilepsy
#9
Xi Liu, Shu Ou, Tao Xu, Shiyong Liu, Jinxian Yuan, Hao Huang, Lu Qin, Hui Yang, Lifen Chen, Xinjie Tan, Yangmei Chen
Epigenetics underlying refractory epilepsy is poorly understood, especially in patients without distinctive genetic alterations. DNA methylation may affect gene expression in epilepsy without affecting DNA sequences. Herein, we analyzed genome-wide DNA methylation and gene expression in brain tissues of 10 patients with refractory epilepsy using methylated DNA immunoprecipitation linked with sequencing and mRNA Sequencing. Diverse distribution of differentially methylated genes was found in X chromosome, while differentially methylated genes appeared rarely in Y chromosome...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27900402/effects-of-ugt1a9-genetic-polymorphisms-on-monohydroxylated-derivative-of-oxcarbazepine-concentrations-and-oxcarbazepine-monotherapeutic-efficacy-in-chinese-patients-with-epilepsy
#10
Yao Lu, Youxin Fang, Xunyi Wu, Chunlai Ma, Yue Wang, Lan Xu
AIM: The human UDP-glucuronosyltransferase which is genetically polymorphic catalyzes glucuronidations of various drugs. The interactions among UGT1A4, UGT1A6, UGT1A9, and UGT2B15 genetic polymorphisms, monohydroxylated derivative (MHD) of oxcarbazepine (OXC) plasma concentrations, and OXC monotherapeutic efficacy were explored in 124 Chinese patients with epilepsy receiving OXC monotherapy. METHOD: MHD is the major active metabolite of OXC, and its plasma concentration was measured using high-performance liquid chromatography when patients reached their maintenance dose of OXC...
November 29, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27864833/structured-clinical-documentation-in-the-electronic-medical-record-to-improve-quality-and-to-support-practice-based-research-in-epilepsy
#11
Jaishree Narayanan, Sofia Dobrin, Janet Choi, Susan Rubin, Anna Pham, Vimal Patel, Roberta Frigerio, Darryck Maurer, Payal Gupta, Lourdes Link, Shaun Walters, Chi Wang, Yuan Ji, Demetrius M Maraganore
OBJECTIVE: Using the electronic medical record (EMR) to capture structured clinical data at the point of care would be a practical way to support quality improvement and practice-based research in epilepsy. METHODS: We describe our stepwise process for building structured clinical documentation support tools in the EMR that define best practices in epilepsy, and we describe how we incorporated these toolkits into our clinical workflow. RESULTS: These tools write notes and capture hundreds of fields of data including several score tests: Generalized Anxiety Disorder-7 items, Neurological Disorders Depression Inventory for Epilepsy, Epworth Sleepiness Scale, Quality of Life in Epilepsy-10 items, Montreal Cognitive Assessment/Short Test of Mental Status, and Medical Research Council Prognostic Index...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27816931/underlying-role-of-mitochondrial-mutagenesis-in-the-pathogenesis-of-a-disease-and-current-approaches-for-translational-research
#12
Maria Paraskevaidi, Pierre L Martin-Hirsch, Maria Kyrgiou, Francis L Martin
Mitochondrial diseases have been extensively investigated over the last three decades, but many questions regarding their underlying aetiologies remain unanswered. Mitochondrial dysfunction is not only responsible for a range of neurological and myopathy diseases but also considered pivotal in a broader spectrum of common diseases such as epilepsy, autism and bipolar disorder. These disorders are a challenge to diagnose and treat, as their aetiology might be multifactorial. In this review, the focus is placed on potential mechanisms capable of introducing defects in mitochondria resulting in disease...
November 5, 2016: Mutagenesis
https://www.readbyqxmd.com/read/27816221/congenital-cytomegalovirus-among-children-with-cerebral-palsy
#13
Hayley Smithers-Sheedy, Camille Raynes-Greenow, Nadia Badawi, Marian A Fernandez, Alison Kesson, Sarah McIntyre, Kin-Chuen Leung, Cheryl A Jones
OBJECTIVES: To determine the proportion of children with cerebral palsy (CP) and cytomegalovirus (CMV) DNA detected retrospectively in their newborn screening cards (NBSC), to compare the proportion of children with CMV DNA in their NBSC across spastic subtypes of CP, and to compare the sex and other characteristics of children with CP and CMV detected on their NSBC with those in whom CMV DNA was not detected. STUDY DESIGN: Retrospective observational study. Data were extracted from patient records on children with CP (birth years 1996-2014) from 2 Australian state CP registers and state-wide paediatric rehabilitation services with consent...
November 3, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27815040/the-addition-of-ketone-bodies-alleviates-mitochondrial-dysfunction-by-restoring-complex-i-assembly-in-a-melas-cellular-model
#14
Samuel Frey, Guillaume Geffroy, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Patrizia Amati-Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio
Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral insults resembling strokes and associated with a severe complex I deficiency caused by mitochondrial DNA (mtDNA) mutations...
January 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27812320/dynamic-regulation-of-the-adenosine-kinase-gene-during-early-postnatal-brain-development-and-maturation
#15
Katharina Kiese, Janos Jablonski, Detlev Boison, Katja Kobow
The ubiquitous metabolic intermediary and nucleoside adenosine is a "master regulator" in all living systems. Under baseline conditions adenosine kinase (ADK) is the primary enzyme for the metabolic clearance of adenosine. By regulating the availability of adenosine, ADK is a critical upstream regulator of complex homeostatic and metabolic networks. Not surprisingly, ADK dysfunction is involved in several pathologies, including diabetes, epilepsy, and cancer. ADK protein exists in the two isoforms nuclear ADK-L, and cytoplasmic ADK-S, which are subject to dynamic expression changes during brain development and in response to brain injury; however, gene expression changes of the Adk gene as well as regulatory mechanisms that direct the cell-type and isoform specific expression of ADK have never been investigated...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27795544/association-of-ugt2b7-and-ugt1a4-polymorphisms-with-serum-concentration-of-antiepileptic-drugs-in-children
#16
Zhongliang Du, Yukun Jiao, Lianting Shi
BACKGROUND This study aimed to analyze the relationship of UGT2B7 and UGT1A4 polymorphisms with metabolism of valproic acid (VPA) and lamotrigine (LTG) in epileptic children. MATERIAL AND METHODS We administered VPA (102) and LTG (102) to 204 children with epilepsy. Blood samples were collected before the morning dose. Serum concentration of LTG was measured by high-performance liquid chromatography (HPLC). Serum VPA concentration was tested by fluorescence polarization immunoassay. UGT2B7 A268G, C802T, and G211T polymorphisms, as well as UGT1A4 L48V polymorphism, were assayed by direct automated DNA sequencing after PCR...
October 31, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/27766957/copy-number-variations-in-saudi-family-with-intellectual-disability-and-epilepsy
#17
Muhammad I Naseer, Adeel G Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai T Ashgan, Mourad Assidi, Farid Ahmed, Shakeel A Ansari, Syed Kashif Zaidi, Mohammed M Jan, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. RESULTS: In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis...
October 17, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27754286/br-07-1-development-of-the-cell-microarray-for-high-throughput-analysis-of-gut-microbiota
#18
Seong-Tshool Hong
The human intestine contains a massive and complex microbial community called gut microbiota. A typical human carries 100 trillion microbes in his/her body which is 10 times greater than the number of their host cells, i.e. whole number of human cells. A combined microbial genome constituting gut microbiota is well excess our own human genome. The microbial composition of gut microbiotata and its role on diseases became a booming area of research, presenting a new paradigm of opportunities for modern medicines...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#19
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27694521/mutations-in-the-phosphatidylinositol-glycan-c-pigc-gene-are-associated-with-epilepsy-and-intellectual-disability
#20
Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St-Denis, Avraham Shaag, Nadira Damseh, Françoise Le Deist, Yenan Bryceson, Bassam Abu-Libdeh, Philippe M Campeau, Taroh Kinoshita, Orly Elpeleg
BACKGROUND: Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search for disease causing genes using homozygosity mapping was progressing slowly until 2010, then markedly accelerated by the introduction of exome analysis. OBJECTIVES: To identify the disease causing mutation(s) in three patients from two unrelated families who suffered from global developmental delay, severe ID and drug-responsive seizure disorder...
September 30, 2016: Journal of Medical Genetics
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