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epilepsy microarray

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https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#1
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29729532/how-do-we-diagnose-and-treat-epilepsy-with-myoclonic-atonic-seizures-doose-syndrome-results-of-the-pediatric-epilepsy-research-consortium-survey
#2
Katherine Nickels, Ronald Thibert, Stephanie Rau, Scott Demarest, Elaine Wirrell, Eric H Kossoff, Charuta Joshi, Srishti Nangia, Renee Shellhaas
OBJECTIVE: To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS. METHODS: The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS...
April 25, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29706646/comprehensive-genomic-analysis-of-patients-with-disorders-of-cerebral-cortical-development
#3
Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek, Katarzyna Sobecka, Beata Nowakowska, Malgorzata Kruk, Iwona Terczynska, Alicja Goszczanska-Ciuchta, Mariola Rudzka-Dybala, Ewa Jamroz, Antoni Pyrkosz, Anna Jakubiuk-Tomaszuk, Piotr Iwanowski, Dorota Gieruszczak-Bialek, Malgorzata Piotrowicz, Maria Sasiadek, Iwona Kochanowska, Barbara Gurda, Barbara Steinborn, Mateusz Dawidziuk, Jennifer Castaneda, Pawel Wlasienko, Natalia Bezniakow, Shalini N Jhangiani, Dorota Hoffman-Zacharska, Jerzy Bal, Elzbieta Szczepanik, Eric Boerwinkle, Richard A Gibbs, James R Lupski
Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29702408/dysregulated-long-non-coding-rnas-in-the-temporal-lobe-epilepsy-mouse-model
#4
Yoonhyuk Jang, Jangsup Moon, Soon-Tae Lee, Jin-Sun Jun, Tae-Joon Kim, Jung-Ah Lim, Byeong-Su Park, Jung-Suk Yu, Dong-Kyu Park, Ah Reaum Yang, Kyung-Ii Park, Ki-Young Jung, Manho Kim, Keun-Hwa Jung, Daejong Jeon, Kon Chu, Sang Kun Lee
PURPOSE: To perform comprehensive profiling of long non-coding RNAs (LncRNAs) in temporal lobe epilepsy. METHODS: We performed extensive profiling of LncRNAs and mRNAs in the mouse pilocarpine model in specific brain regions, the hippocampus and cortex, and compared the results to those of the control mouse. Differentially expressed LncRNAs and mRNAs were identified with a microarray analysis (Arraystar Mouse LncRNA Expression Microarray V3.0). Then, gene ontology (GO) and pathway analysis were performed to investigate the potential roles of the differentially expressed mRNAs in the pilocarpine model...
April 13, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29663692/profiles-of-gene-expression-in-the-hippocampal-formation-of-rats-with-experimentally-induced-brain-dysplasia
#5
Michal Kielbinski, Zuzanna Setkowicz, Kinga Gzielo, Krzysztof Janeczko
Malformations of cortical development (MCD) are a common cause of intractable seizures in humans. Among these, focal cortical dysplasia (FCD) poses an outstanding challenge. There are several subtypes of FCD that show significant variation in pathology and clinical presentation. All types exhibit disturbed cortical cytoarchitecture and increased propensity for seizures. The etiology is likely heterogenous, with mutations, specifically in genes related to mammalian target of rapamycin (mTOR), identified in only a subset of cases...
April 16, 2018: Developmental Neurobiology
https://www.readbyqxmd.com/read/29611406/phenotypic-analysis-of-korean-patients-with-abnormal-chromosomal-microarray-in-patients-with-unexplained-developmental-delay-intellectual-disability
#6
Hyo Jeong Kim, Chang Il Park, Jae Woo Lim, Gyung Min Lee, Eunhae Cho, Hyon J Kim
PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014...
May 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29588953/copy-number-variation-in-a-hospital-based-cohort-of-children-with-epilepsy
#7
Danique R M Vlaskamp, Petra M C Callenbach, Patrick Rump, Lucia A A Giannini, Trijnie Dijkhuizen, Oebele F Brouwer, Conny M A van Ravenswaaij-Arts
Objective: To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and susceptibility loci for epilepsy. Methods: Of all children who presented with their first seizure in the University Medical Center Groningen (January 2000 through May 2013) (n = 1,368), we included 226 (17%) children who underwent microarray analysis before June 2014. All 226 children had a definite diagnosis of epilepsy...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29554876/clinical-utility-of-exome-sequencing-in-individuals-with-large-homozygous-regions-detected-by-chromosomal-microarray-analysis
#8
Aparna Prasad, Matthew A Sdano, Rena J Vanzo, Patricia A Mowery-Rushton, Moises A Serrano, Charles H Hensel, E Robert Wassman
BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions within the genome, which represent potential risk for recessively inherited disorders. METHODS: To determine the frequency in which pathogenic or likely pathogenic variants can be detected in these regions of homozygosity, we performed whole exome sequencing (WES) in 53 individuals where homozygosity was detected by CMA...
March 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29492108/human-ring-chromosome-registry-for-cases-in-the-chinese-population-re-emphasizing-cytogenomic-and-clinical-heterogeneity-and-reviewing-diagnostic-and-treatment-strategies
#9
REVIEW
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
https://www.readbyqxmd.com/read/29461643/dysregulation-of-neurog2-plays-a-key-role-in-focal-cortical-dysplasia
#10
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 polymerase chain reaction, 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...
March 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#11
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
https://www.readbyqxmd.com/read/29432238/nervous-system-malformations
#12
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
https://www.readbyqxmd.com/read/29286347/anticonvulsant-activity-of-halogen-substituted-cinnamic-acid-derivatives-and-their-effects-on-glycosylation-of-ptz-induced-chronic-epilepsy-in-mice
#13
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
https://www.readbyqxmd.com/read/29217985/a-look-behind-the-curtain-epilepsy-microarray-consortium
#14
COMMENT
Jennifer A Kearney
No abstract text is available yet for this article.
November 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/29203264/identification-of-genes-regulating-gabaergic-interneuron-maturation
#15
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
https://www.readbyqxmd.com/read/29156220/the-epilepsy-phenotype-in-adult-patients-with-intellectual-disability-and-pathogenic-copy-number-variants
#16
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
https://www.readbyqxmd.com/read/29056246/diagnostic-yield-from-339-epilepsy-patients-screened-on-a-clinical-gene-panel
#17
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
https://www.readbyqxmd.com/read/29042871/application-of-array-comparative-genomic-hybridization-in-korean-children-under-6-years-old-with-global-developmental-delay
#18
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
https://www.readbyqxmd.com/read/28969878/epilepsy-in-22q11-2-deletion-syndrome-a-case-series-and-literature-review
#19
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
https://www.readbyqxmd.com/read/28940419/detection-of-copy-number-variations-in-epilepsy-using-exome-data
#20
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 Weisz 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 in known epilepsy-associated genes to further validate CNVs using 2 different CNV detection tools using WES data...
March 2018: Clinical Genetics
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