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epilepsy microarray

Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
Simoni H Avansini, Fábio R Torres, André S Vieira, Danyella B Dogini, Fabio Rogerio, Ana C Coan, Marcia E Morita, Marilisa M Guerreiro, Clarissa L Yasuda, Rodrigo Secolin, Benilton S Carvalho, Murilo G Borges, Vanessa S Almeida, Patrícia A O R Araújo, Luciano Queiroz, Fernando Cendes, Iscia Lopes-Cendes
OBJECTIVE: Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II. METHODS: We used total RNA from the brain tissue of 16 patients with FCD type II and 28 controls. MicroRNA expression was initially assessed by microarray. Quantitative PCR (qPCR), in situ hybridization, luciferase reporter assays and deep sequencing for genes in the mTOR pathway were performed to validate and further explore our initial study...
February 20, 2018: Annals of Neurology
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
BACKGROUND: Monogenic defects of synaptic vesicle (SV) homeostasis have been implicated in many neurologic diseases, including autism, epilepsy, and movement disorders. In addition, abnormal vesicle exocytosis has been associated with several endocrine dysfunctions. METHODS: We report an 11 year old girl with learning disabilities, tremors, ataxia, transient hyperglycemia, and muscle fatigability responsive to albuterol sulfate. Failure of neuromuscular transmission was confirmed by single fiber electromyography...
February 14, 2018: Molecular Genetics & Genomic Medicine
John Gaitanis, Tomo Tarui
PURPOSE OF REVIEW: This article provides an overview of the most common nervous system malformations and serves as a reference for the latest advances in diagnosis and treatment. RECENT FINDINGS: Major advances have occurred in recognizing the genetic basis of nervous system malformations. Environmental causes of nervous system malformations, such as perinatal infections including Zika virus, are also reviewed. Treatment for nervous system malformations begins prior to birth with prevention...
February 2018: Continuum: Lifelong Learning in Neurology
Ye Cuan, Xirui He, Yuhui Zhao, Jiajun Yang, Yajun Bai, Yin Sun, Qiang Zhang, Zefeng Zhao, Xiaoyang Wei, Xiaohui Zheng
Epilepsy is a common chronic neurological disorder disease, and there is an urgent need for the development of novel anticonvulsant drugs. In this study, the anticonvulsant activities and neurotoxicity of 12 cinnamic acid derivatives substituted by fluorine, chlorine, bromine, and trifluoromethyl groups were screened by the maximal electroshock seizure (MES) and rotarod tests (Tox). Three of the tested compounds (compounds 3, 6 and 12) showed better anticonvulsant effects and lower neurotoxicity. They showed respective median effective dose (ED50) of 47...
December 29, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Jennifer A Kearney
No abstract text is available yet for this article.
November 2017: Epilepsy Currents
Keita Fukumoto, Kota Tamada, Tsuyoshi Toya, Tasuku Nishino, Yuchio Yanagawa, Toru Takumi
During embryonic development, GABAergic interneurons, a main inhibitory component in the cerebral cortex, migrate tangentially from the ganglionic eminence (GE) to cerebral cortex. After reaching the cerebral cortex, they start to extend their neurites for constructing local neuronal circuits around the neonatal stage. Aberrations in migration or neurite outgrowth are implicated in neurological and psychiatric disorders such as epilepsy, schizophrenia and autism. Previous studies revealed that in the early phase of cortical development the neural population migrates tangentially from the GE in the telencephalon and several genes have been characterized as regulators of migration and specification of GABAergic interneurons...
December 2, 2017: Neuroscience Research
Giuseppe d'Orsi, Tommaso Martino, Orazio Palumbo, Maria Grazia Pascarella, Pietro Palumbo, Maria Teresa Di Claudio, Carlo Avolio, Massimo Carella
PURPOSE: To characterize the electroclinical features of epilepsy associated with intellectual disability and pathogenic copy number variations (CNVs) METHODS: we prospectively investigated 61 adult patients with epilepsy and intellectual disability or other neurodevelopmental disorders. We performed high resolution SNP-Array analysis in order to detect clinical relevant chromosomal microdeletions and microduplications. An ordinal logistic regression model was fitted with 34 demographic, clinical and EEG-related variables in order to identify the epilepsy phenotype of patients with pathogenic CNVs...
December 2017: Seizure: the Journal of the British Epilepsy Association
Kameryn M Butler, Cristina da Silva, John J Alexander, Madhuri Hegde, Andrew Escayg
BACKGROUND: The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic variant can help families to better cope with the disorder, allows for genetic counseling to determine recurrence risk, and in some cases, can directly influence treatment options. In this study, we determined the diagnostic yield of a clinical gene panel applied to an unselected cohort of epilepsy patients. METHODS: Variant reports from 339 clinically referred epilepsy patients screened using a 110-gene panel were retrospectively reviewed...
December 2017: Pediatric Neurology
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
Basanagoud Mudigoudar, Sunitha Nune, Stephen Fulton, Ehab Dayyat, James W Wheless
BACKGROUND: The 22q11.2 deletion syndrome affects multiple organ systems, and the neurological manifestations are an important aspect of this disorder. Many are aware of cardiac anomalies associated with this uncommon genetic disorder. However, the different types of seizures, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) findings seen in this condition are not appreciated. METHODS: Medical records of four patients with epilepsy due to 22q11...
August 26, 2017: Pediatric Neurology
N Tsuchida, M Nakashima, M Kato, E Heyman, T Inui, K Haginoya, S Watanabe, T Chiyonobu, M Morimoto, M Ohta, A Kumakura, M Kubota, Y Kumagai, S-I Hamano, C M Lourenco, N A Yahaya, G-S Ch'ng, L-H Ngu, A Fattal-Valevski, M W Hubshman, N Orenstein, D Marom, L Cohen, H Goldberg-Stern, Y Uchiyama, E Imagawa, T Mizuguchi, A Takata, N Miyake, H Nakajima, H Saitsu, S Miyatake, N Matsumoto
Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Here, we analyzed 294 families with epilepsy using WES, and focused on 168 families with no causative single nucleotide variants (SNVs) in known epilepsy-associated genes to further validate CNVs using two different CNV detection tools using WES data...
September 22, 2017: Clinical Genetics
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
Atreye Majumdar, Fahim Ahmad, Touseef Sheikh, Reshma Bhagat, Pankaj Pathak, Shanker Datt Joshi, Pankaj Seth, Vivek Tandon, Manjari Tripathi, P Saratchandra, Chitra Sarkar, Ellora Sen
Gangliogliomas (GGs) are the most commonly diagnosed long-term epilepsy-associated tumors (LEATs). Although molecular characterizations of brain tumors have identified few novel biomarkers among the LEATs, mechanisms of pathogenesis remain poorly understood. In this study, global microarray-based microRNA (miRNA) expression profile on a set of 9 GGs indicated 66 miRNAs to be differentially expressed in GG as compared to normal brain. The differences validated by qRT-PCR indicated microRNA-217 to be the most downregulated...
November 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Xixia Liu, Yuhan Liao, Xiuxiu Wang, Donghua Zou, Chun Luo, Chongdong Jian, Yuan Wu
MicroRNA (miRNA) is believed to play a crucial role in the cause and treatment of epilepsy by controlling gene expression. However, it is still unclear how miRNA profiles change after multiple prolonged seizures and aggravation of brain injury in chronic epilepsy (CE). To investigate the role of miRNA in epilepsy, we utilized the CE rat models with pentylenetetrazol (PTZ) and miRNA profiles in the hippocampus. miRNA profiles were characterized using miRNA microarray analysis and were compared with the rats in the sham group, which received 0...
2017: Neuropsychiatric Disease and Treatment
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
Anne T Berg, Jason Coryell, Russell P Saneto, Zachary M Grinspan, John J Alexander, Mariana Kekis, Joseph E Sullivan, Elaine C Wirrell, Renée A Shellhaas, John R Mytinger, William D Gaillard, Eric H Kossoff, Ignacio Valencia, Kelly G Knupp, Courtney Wusthoff, Cynthia Keator, William B Dobyns, Nicole Ryan, Tobias Loddenkemper, Catherine J Chu, Edward J Novotny, Sookyong Koh
Importance: Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective: To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants: In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year...
September 1, 2017: JAMA Pediatrics
Mootaz M Salman, Mariam A Sheilabi, Dev Bhattacharyya, Philip Kitchen, Alex C Conner, Roslyn M Bill, M Nicola Woodroofe, Matthew T Conner, Alessandra P Princivalle
Epilepsies are common disorders of the central nervous system (CNS), affecting up to 2% of the global population. Pharmaco-resistance is a major clinical challenge affecting about 30% of temporal lobe epilepsy (TLE) patients. Water homeostasis has been shown crucial for regulation of neuronal excitability. The control of water movement is achieved through a family of small integral membrane channel proteins called aquaporins (AQPs). Despite the fact that changes in water homeostasis occur in sclerotic hippocampi of people with TLE, the expression of AQPs in the epileptic brain is not fully characterised...
July 17, 2017: European Journal of Neuroscience
Helen C Wu, Fabien Dachet, Farhad Ghoddoussi, Shruti Bagla, Darren Fuerst, Jeffrey A Stanley, Matthew P Galloway, Jeffrey A Loeb
OBJECTIVE: This study aimed to identify noninvasive biomarkers of human epilepsy that can reliably detect and localize epileptic brain regions. Having noninvasive biomarkers would greatly enhance patient diagnosis, patient monitoring, and novel therapy development. At the present time, only surgically invasive, direct brain recordings are capable of detecting these regions with precision, which severely limits the pace and scope of both clinical management and research progress in epilepsy...
September 2017: Epilepsia
Vasudevan Prabhakaran, Douglas A Drevets, Govindan Ramajayam, Josephine J Manoj, Michael P Anderson, Jay S Hanas, Vedantam Rajshekhar, Anna Oommen, Hélène Carabin
BACKGROUND: Neurocysticercosis (NCC), a neglected tropical disease, inflicts substantial health and economic costs on people living in endemic areas such as India. Nevertheless, accurate diagnosis using brain imaging remains poorly accessible and too costly in endemic countries. The goal of this study was to test if blood monocyte gene expression could distinguish patients with NCC-associated epilepsy, from NCC-negative imaging lesion-free patients presenting with idiopathic epilepsy or idiopathic headaches...
June 2017: PLoS Neglected Tropical Diseases
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