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https://www.readbyqxmd.com/read/27903967/new-differentially-expressed-genes-and-differential-dna-methylation-underlying-refractory-epilepsy
#1
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
#2
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
#3
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...
November 19, 2016: Epilepsia
https://www.readbyqxmd.com/read/27816931/underlying-role-of-mitochondrial-mutagenesis-in-the-pathogenesis-of-a-disease-and-current-approaches-for-translational-research
#4
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
#5
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
#6
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...
November 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27812320/dynamic-regulation-of-the-adenosine-kinase-gene-during-early-postnatal-brain-development-and-maturation
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27680221/a-case-of-cerebrotendinous-xanthomatosis-mimicking-the-clinical-phenotype-of-mitochondrial-disease-with-a-novel-frame-shift-mutation-c-43_44-delgg-in-cyp27a1-gene-exon-1
#13
Junpei Koge, Shintaro Hayashi, Hiroo Yamaguchi, Takahisa Tateishi, Hiroyuki Murai, Jun-Ichi Kira
A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27671241/epilepsy-characteristics-and-clinical-outcome-in-patients-with-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas
#14
Ha Neul Lee, Soyong Eom, Se Hoon Kim, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Young-Mock Lee
BACKGROUND: Epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic features. We reviewed epilepsy characteristics and clinical outcome exclusively in a pediatric population. METHODS: Twenty-two children and adolescents (13 males) with confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes due to mitochondrial DNA A3243G mutation and epilepsy were recruited...
August 26, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27651245/epigenetic-modifications-in-neurological-diseases-natural-products-as-epigenetic-modulators-a-treatment-strategy
#15
Omkaram Gangisetty, Sengottuvelan Murugan
Epigenetic modifications, including DNA methylation, covalent histone modifications, and small noncoding RNAs, play a key role in regulating the gene expression. This regulatory mechanism is important in cellular differentiation and development. Recent advances in the field of epigenetics extended the role of epigenetic mechanisms in controlling key biological processes such as genome imprinting and X-chromosome inactivation. Aberrant epigenetic modifications are associated with the development of many diseases...
2016: Advances in Neurobiology
https://www.readbyqxmd.com/read/27650712/mbd3-expression-and-dna-binding-patterns-are-altered-in-a-rat-model-of-temporal-lobe-epilepsy
#16
Joanna Bednarczyk, Konrad J Dębski, Anna M Bot, Katarzyna Lukasiuk
The aim of the present study was to examine involvement of MBD3 (methyl-CpG-binding domain protein 3), a protein involved in reading DNA methylation patterns, in epileptogenesis and epilepsy. We used a well-characterized rat model of temporal lobe epilepsy that is triggered by status epilepticus, evoked by electrical stimulation of the amygdala. Stimulated and sham-operated animals were sacrificed 14 days after stimulation. We found that MBD3 transcript was present in neurons, oligodendrocytes, and astrocytes in both control and epileptic animals...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27643284/br-07-1-development-of-the-cell-microarray-for-high-throughput-analysis-of-gut-microbiota
#17
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/27577205/-clinical-and-genetic-characteristics-of-patients-with-dentatorubro-pallidoluysian-atrophy
#18
Hua Li, Xiangshu Hu, Lingxia Fei, Peiqi Zhang, Xinhao Chen, Mei Ouyang, Wei Zhang, Xingzhou Liu
OBJECTIVE: To explore the clinical and genetic characteristics of patients with dentatorubro-pallidoluysian atrophy (DRPLA). METHODS: DNA analysis for DRPLA gene was performed in two patients. Clinical features and genetic testing of Chinese DRPLA patients reported in the literature were reviewed in terms of initial symptoms, CAG repeat and age of onset. RESULTS: Both families were confirmed by genetic analysis. In family 1, the number of CAG repeat in the proband, his brother and his mother was determined respectively as 8/65, 8/53 and 8/18...
October 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27557899/microrna-epigenetic-signatures-in-human-disease
#19
REVIEW
Klara Piletič, Tanja Kunej
MicroRNAs (miRNAs) are short non-coding RNAs that act as important regulators of gene expression as part of the epigenetic machinery. In addition to posttranscriptional gene silencing by miRNAs, the epigenetic mechanisms also include DNA methylation, histone modifications and their crosstalk. Epigenetic modifications were reported to play an important role in many disease onsets and progressions and can be used to explain several features of complex diseases, such as late onset and fluctuation of symptoms. However, miRNAs not only function as a part of epigenetic machinery, but are also epigenetically modified by DNA methylation and histone modification like any other protein-coding gene...
October 2016: Archives of Toxicology
https://www.readbyqxmd.com/read/27555780/alpers-huttenlocher-syndrome-the-role-of-a-multidisciplinary-health-care-team
#20
REVIEW
Russell P Saneto
Alpers-Huttenlocher syndrome (AHS) is a mitochondrial DNA-depletion syndrome. Age of onset is bimodal: early onset at 2-4 years and later adolescent onset at 17-24 years of age. Early development is usually normal, with epilepsy heralding the disorder in ~50% of patients. The onset of seizures is coupled with progressive cognitive decline. Hepatopathy is variable, and when present is a progressive dysfunction leading to liver failure in many cases. These features of seizures, cognitive degeneration, and hepatopathy represent the "classic triad" of AHS...
2016: Journal of Multidisciplinary Healthcare
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