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epilepsy microarray

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https://www.readbyqxmd.com/read/27844061/lithium-responsive-seizure-like-hyperexcitability-is-caused-by-a-mutation-in-the-drosophila-voltage-gated-sodium-channel-gene-paralytic
#1
Garrett A Kaas, Junko Kasuya, Patrick Lansdon, Atsushi Ueda, Atulya Iyengar, Chun-Fang Wu, Toshihiro Kitamoto
Shudderer (Shu) is an X-linked dominant mutation in Drosophila melanogaster identified more than 40 years ago. A previous study showed that Shu caused spontaneous tremors and defects in reactive climbing behavior, and that these phenotypes were significantly suppressed when mutants were fed food containing lithium, a mood stabilizer used in the treatment of bipolar disorder (Williamson, 1982). This unique observation suggested that the Shu mutation affects genes involved in lithium-responsive neurobiological processes...
September 2016: ENeuro
https://www.readbyqxmd.com/read/27828868/prenatal-diagnosis-and-genetic-discoveries-of-an-intracranial-mixed-neuronal-glial-tumor-a-case-report-and-literature-review
#2
Lijuan Sun, Qingqing Wu, Yan Pei, Jinghua Li, Jintang Ye, Wenxue Zhi, Yan Liu, Puqing Zhang
BACKGROUND: Congenital intracranial tumors as a group are quite rare, representing only 0.5% to 1.5% of all pediatric brain neoplasms. CASE REPORT: We reported a case of congenital mixed neuronal-glial tumor detected by ultrasound at 30 weeks of gestation. It showed that the tumor was 2.5 × 2.3 × 2.1 cm in size, located in the sellar region, regular shape, and slightly heterogeneous solid mass with a little cystic component. No color flow was present inside the tumor, but the peripheral encirclement by arterial circle of Willis...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27824513/aberrant-expression-of-mir-323a-5p-in-patients-with-refractory-epilepsy-caused-by-focal-cortical-dysplasia
#3
Ningwei Che, Guo Zu, Tingting Zhou, Xiaofeng Wang, Yuqiang Sun, Zeshi Tan, Yaoling Liu, Dong Wang, Xiaodong Luo, Ze Zhao, Yue Zhang, Minghai Wei, Jian Yin
BACKGROUND: Epilepsy remains one of the most common clinical neurological disorders. About a third of patients with epilepsy are refractory to drug treatment, mainly as a result of focal cortical dysplasia (FCD). In this study, we analyzed the aberrant expression of microRNAs (miRNAs) in the cortex and plasma of FCD patients. METHODS: Cortical samples were collected from nine patients with refractory epilepsy caused by FCD who underwent surgery, and from eight volunteers (control group) undergoing emergency surgery for hypertensive cerebral hemorrhage...
November 8, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27754286/br-07-1-development-of-the-cell-microarray-for-high-throughput-analysis-of-gut-microbiota
#4
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/27731509/microrna-139-5p-negatively-regulates-nr2a-containing-nmda-receptor-in-the-rat-pilocarpine-model-and-patients-with-temporal-lobe-epilepsy
#5
Walid A Alsharafi, Bo Xiao, Jing Li
OBJECTIVES: Regulation of N-methyl-d-aspartate (NMDA) subunits NR2A and NR2B expression during status epilepticus (SE) remains incompletely understood. Here we explored the role of brain-enriched microRNA (miR)-139-5p in this process. METHODS: miRNA microarray was performed to examine changes in miRNA expression in the rat pilocarpine model following NMDA-receptor blockade. The dynamic expression patterns of miR-139-5p, NR2A, and NR2B levels were measured in rats during the three phases of temporal lobe epilepsy (TLE) development using quantitative reverse transcription polymerase chain reaction (qRT-PCR) and Western blot...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27726903/diagnostic-yield-of-epilepsy-panels-in-children-with-medication-refractory-epilepsy
#6
Eric Segal, Helio Pedro, Karen Valdez-Gonzalez, Sarah Parisotto, Felicia Gliksman, Stephen Thompson, Jomard Sabri, Evan Fertig
BACKGROUND: When no chromosomal variations are identified, patients with suspected genetic etiologies can be tested using next-generation sequencing utilizing epilepsy panels. The primary objective of this study was to analyze the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects with non-clinically significant comparative genomic hybridization microarray results. METHODS: We completed a single-center retrospective review of the diagnostic yield of next-generation sequencing epilepsy panels in medication-resistant epilepsy subjects aged 18 years or less who had non-clinically significant comparative genomic hybridization microarray results from January 2011 to December 2014...
July 1, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27718271/neuropsychiatric-aspects-of-22q11-2-deletion-syndrome-considerations-in-the-prenatal-setting
#7
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/27695061/identification-of-micrornas-with-dysregulated-expression-in-status-epilepticus-induced-epileptogenesis
#8
Mykaella Andrade de Araújo, Thalita Ewellyn Batista Sales Marques, Shirley Octacílio-Silva, Carmem Lúcia de Arroxelas-Silva, Marília Gabriella Alves Goulart Pereira, José Eduardo Peixoto-Santos, Ludmyla Kandratavicius, João Pereira Leite, Norberto Garcia-Cairasco, Olagide Wagner Castro, Marcelo Duzzioni, Geraldo Aleixo Passos, Maria Luisa Paçó-Larson, Daniel Leite Góes Gitaí
The involvement of miRNA in mesial temporal lobe epilepsy (MTLE) pathogenesis has increasingly become a focus of epigenetic studies. Despite advances, the number of known miRNAs with a consistent expression response during epileptogenesis is still small. Addressing this situation requires additional miRNA profiling studies coupled to detailed individual expression analyses. Here, we perform a miRNA microarray analysis of the hippocampus of Wistar rats 24 hours after intra-hippocampal pilocarpine-induced Status Epilepticus (H-PILO SE)...
2016: PloS One
https://www.readbyqxmd.com/read/27690330/mapping-of-a-feb3-homologous-febrile-seizure-locus-on-mouse-chromosome-2-containing-candidate-genes-scn1a-and-scn3a
#9
Ellen V S Hessel, Hein A van Lith, Inge G Wolterink-Donselaar, Marina de Wit, Marian J A Groot Koerkamp, Frank C P Holstege, Martien J H Kas, Cathy Fernandes, Pierre N E de Graan
Febrile seizures (FS) are the most common seizure type in children. Recurrent FS are a risk factor for developing temporal lobe epilepsy later in life and are known to have a strong genetic component. Experimental FS (eFS) can be elicited in mice by warm-air induced hyperthermia. We used this model to screen the chromosome substitution strain (CSS) panel derived from C57BL/6J and A/J for FS susceptibility and identified C57BL/6J-Chr2(A) /NaJ (CSS2), as the strain with the strongest FS susceptibility phenotype...
September 30, 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27689807/expression-of-microrna-129-2-3p-and-microrna-935-in-plasma-and-brain-tissue-of-human-refractory-epilepsy
#10
Yuqiang Sun, Xiaofeng Wang, Zeyang Wang, Yuanyang Zhang, Ningwei Che, Xiadong Luo, Zeshi Tan, Xu Sun, Xinyu Li, Kang Yang, Guanyu Wang, Lan Luan, Yaoling Liu, Xiao Zheng, Minghai Wei, Huakun Cheng, Jian Yin
OBJECTIVE: Numerous microRNAs (miRNAs) are differentially expressed in specific diseases, suggesting possible use as diagnostic or prognostic biomarkers. The purpose of this study is to investigate the expression levels of miR-129-2-3p and miR-935 in cortical brain tissue and plasma samples from controls and refractory temporal lobe epilepsy (TLE) patients to evaluate the utility of these measures as diagnostic biomarkers. METHODS: The study was divided into three phases...
September 23, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27665534/hidden-discriminative-features-extraction-for-supervised-high-order-time-series-modeling
#11
Ngoc Anh Thi Nguyen, Hyung-Jeong Yang, Sunhee Kim
In this paper, an orthogonal Tucker-decomposition-based extraction of high-order discriminative subspaces from a tensor-based time series data structure is presented, named as Tensor Discriminative Feature Extraction (TDFE). TDFE relies on the employment of category information for the maximization of the between-class scatter and the minimization of the within-class scatter to extract optimal hidden discriminative feature subspaces that are simultaneously spanned by every modality for supervised tensor modeling...
August 26, 2016: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/27651829/a-boy-with-conduct-disorder-cd-attention-deficit-hyperactivity-disorder-adhd-borderline-intellectual-disability-and-47-xxy-syndrome-in-combination-with-a-7q11-23-duplication-11p15-5-deletion-and-20q13-33-deletion
#12
Gerasimos Kolaitis, Christian G Bouwkamp, Alexia Papakonstantinou, Ioanna Otheiti, Maria Belivanaki, Styliani Haritaki, Terpsihori Korpa, Zinovia Albani, Elena Terzioglou, Polyxeni Apostola, Aggeliki Skamnaki, Athena Xaidara, Konstantina Kosma, Sophia Kitsiou-Tzeli, Maria Tzetis
BACKGROUND: This is a case with multiple chromosomal aberrations which are likely etiological for the observed psychiatric phenotype consisting of attention deficit hyperactivity and conduct disorders. CASE PRESENTATION: We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed...
2016: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/27643284/br-07-1-development-of-the-cell-microarray-for-high-throughput-analysis-of-gut-microbiota
#13
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/27610074/comparative-gene-expression-analysis-of-two-mouse-models-of-autism-transcriptome-profiling-of-the-btbr-and-en2-hippocampus
#14
Giovanni Provenzano, Zelia Corradi, Katia Monsorno, Tarcisio Fedrizzi, Laura Ricceri, Maria L Scattoni, Yuri Bozzi
Autism spectrum disorders (ASD) are characterized by a high degree of genetic heterogeneity. Genomic studies identified common pathological processes underlying the heterogeneous clinical manifestations of ASD, and transcriptome analyses revealed that gene networks involved in synapse development, neuronal activity, and immune function are deregulated in ASD. Mouse models provide unique tools to investigate the neurobiological basis of ASD; however, a comprehensive approach to identify transcriptional abnormalities in different ASD models has never been performed...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27607483/can-clinical-characteristics-be-criteria-to-perform-chromosomal-microarray-analysis-in-children-and-adolescents-with-autism-spectrum-disorders
#15
Melissa Sys, Ann VAN DEN Bogaert, Bram Roosens, Annik Lampo, Anna Jansen, Sara Wouters, Kathelijn Keymolen
BACKGROUND: Chromosomal microarray analysis (CMA) has become increasingly important in the assessment of patients with autism spectrum disorders (ASD), but is sometimes restricted to patients with specific additional characteristics or comorbidities. We aim to evaluate whether certain clinical characteristics could be criteria to perform CMA and also to investigate the diagnostic value of CMA compared to other genetic analyses in our patient population. METHODS: The files of 311 children diagnosed with ASD were retrospectively analysed...
September 8, 2016: Minerva Pediatrica
https://www.readbyqxmd.com/read/27581855/outcomes-associated-with-isolated-agenesis-of-the-corpus-callosum-a-meta-analysis
#16
REVIEW
Francesco D'Antonio, Giorgio Pagani, Alessandra Familiari, Asma Khalil, Tally-Lerman Sagies, Gustavo Malinger, Zvi Leibovitz, Catherine Garel, Marie Laure Moutard, Gianluigi Pilu, Amar Bhide, Ganesh Acharya, Martina Leombroni, Lamberto Manzoli, Aris Papageorghiou, Federico Prefumo
CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION: Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27554040/aberrant-expression-of-mir-153-is-associated-with-overexpression-of-hypoxia-inducible-factor-1%C3%AE-in-refractory-epilepsy
#17
Yaohua Li, Cheng Huang, Peimin Feng, Yanping Jiang, Wei Wang, Dong Zhou, Lei Chen
Evidence suggest that overexpression of hypoxia-inducible factor-1α (HIF-1α) is linked to multidrug resistance of epilepsy. Here we explored whether aberrant expression of HIF-1α is regulated by miRNAs. Genome-wide microRNA expression profiling was performed on temporal cortex resected from mesial temporal lobe epilepsy (mTLE) patients and age-matched controls. miRNAs that are putative regulator of HIF-1α were predicted via target scan and confirmed by real-time quantitative polymerase chain reaction (RT-qPCR)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27458189/synaptonuclear-messenger-prr7-inhibits-c-jun-ubiquitination-and-regulates-nmda-mediated-excitotoxicity
#18
Dana O Kravchick, Anna Karpova, Matous Hrdinka, Jeffrey Lopez-Rojas, Sanda Iacobas, Abigail U Carbonell, Dumitru A Iacobas, Michael R Kreutz, Bryen A Jordan
Elevated c-Jun levels result in apoptosis and are evident in neurodegenerative disorders such as Alzheimer's disease and dementia and after global cerebral insults including stroke and epilepsy. NMDA receptor (NMDAR) antagonists block c-Jun upregulation and prevent neuronal cell death following excitotoxic insults. However, the molecular mechanisms regulating c-Jun abundance in neurons are poorly understood. Here, we show that the synaptic component Proline rich 7 (PRR7) accumulates in the nucleus of hippocampal neurons following NMDAR activity...
September 1, 2016: EMBO Journal
https://www.readbyqxmd.com/read/27453577/mutations-of-the-sonic-hedgehog-pathway-underlie-hypothalamic-hamartoma-with-gelastic-epilepsy
#19
Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen
Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgical resection allows limited access to the small deep-seated lesions that cause the disease. Here, we report the results of a search for somatic mutations in paired hamartoma- and leukocyte-derived DNA samples from 38 individuals which we conducted by using whole-exome sequencing (WES), chromosomal microarray (CMA), and targeted resequencing (TRS) of candidate genes. Somatic mutations were identified in genes involving regulation of the sonic hedgehog (Shh) pathway in 14/38 individuals (37%)...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27439707/eight-further-individuals-with-intellectual-disability-and-epilepsy-carrying-bi-allelic-cntnap2-aberrations-allow-delineation-of-the-mutational-and-phenotypic-spectrum
#20
Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
BACKGROUND: Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causative for an autosomal-recessive disorder with epilepsy, severe intellectual disability (ID) and cortical dysplasia (CDFES). As the number of reported individuals is still limited, we aimed at a further characterisation of the full mutational and clinical spectrum...
July 20, 2016: Journal of Medical Genetics
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