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Chromatin epilepsy

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https://www.readbyqxmd.com/read/27863250/histone-acetylome-wide-association-study-of-autism-spectrum-disorder
#1
Wenjie Sun, Jeremie Poschmann, Ricardo Cruz-Herrera Del Rosario, Neelroop N Parikshak, Hajira Shreen Hajan, Vibhor Kumar, Ramalakshmi Ramasamy, T Grant Belgard, Bavani Elanggovan, Chloe Chung Yi Wong, Jonathan Mill, Daniel H Geschwind, Shyam Prabhakar
The association of histone modification changes with autism spectrum disorder (ASD) has not been systematically examined. We conducted a histone acetylome-wide association study (HAWAS) by performing H3K27ac chromatin immunoprecipitation sequencing (ChIP-seq) on 257 postmortem samples from ASD and matched control brains. Despite etiological heterogeneity, ≥68% of syndromic and idiopathic ASD cases shared a common acetylome signature at >5,000 cis-regulatory elements in prefrontal and temporal cortex. Similarly, multiple genes associated with rare genetic mutations in ASD showed common "epimutations...
November 17, 2016: Cell
https://www.readbyqxmd.com/read/27798109/embryonic-forebrain-transcriptome-of-mice-with-polyalanine-expansion-mutations-in-the-arx-homeobox-gene
#2
Tessa Mattiske, Kristie Lee, Jozef Gecz, Gaelle Friocourt, Cheryl Shoubridge
The Aristaless related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse developing (12.5 dpc) telencephalon of mice modelling two recurrent polyalanine expansion mutations with different phenotypic severities in the ARX gene...
October 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27665729/new-smarca2-mutation-in-a-patient-with-nicolaides-baraitser-syndrome-and-myoclonic-astatic-epilepsy
#3
S Tang, E Hughes, K Lascelles, M A Simpson, D K Pal
We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides-Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides-Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc...
September 26, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27650712/mbd3-expression-and-dna-binding-patterns-are-altered-in-a-rat-model-of-temporal-lobe-epilepsy
#4
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/27505431/epigenetics-of-epileptogenesis-evoked-upregulation-of-matrix-metalloproteinase-9-in-hippocampus
#5
Katarzyna Zybura-Broda, Renata Amborska, Magdalena Ambrozek-Latecka, Joanna Wilemska, Agnieszka Bogusz, Joanna Bucko, Anna Konopka, Wieslawa Grajkowska, Marcin Roszkowski, Andrzej Marchel, Andrzej Rysz, Lukasz Koperski, Grzegorz M Wilczynski, Leszek Kaczmarek, Marcin Rylski
Enhanced levels of Matrix Metalloproteinase-9 (MMP-9) have been implicated in the pathogenesis of epilepsy in humans and rodents. Lack of Mmp-9 impoverishes, whereas excess of Mmp-9 facilitates epileptogenesis. Epigenetic mechanisms driving the epileptogenesis-related upregulation of MMP-9 expression are virtually unknown. The aim of this study was to reveal these mechanisms. We analyzed hippocampi extracted from adult and pediatric patients with temporal lobe epilepsy as well as from partially and fully pentylenetetrazole kindled rats...
2016: PloS One
https://www.readbyqxmd.com/read/27323938/genetic-investigations-of-the-epileptic-encephalopathies-recent-advances
#6
C T Myers, H C Mefford
The epileptic encephalopathies (EEs) are a group of epilepsy syndromes characterized by multiple seizure types, abundant epileptiform activity, and developmental delay or regression. Advances in genomic technologies over the past decade have accelerated our understanding of the genetic etiology of EE, which is largely due to de novo mutations. Chromosome microarrays to detect copy number variants identify a genomic cause in at least 5-10% of cases. Next-generation sequencing in the form of gene panels or whole exome sequencing have highlighted the role of de novo sequence changes and revealed extensive genetic heterogeneity...
2016: Progress in Brain Research
https://www.readbyqxmd.com/read/27193049/histone-deacetylase-inhibitor-saha-attenuates-post-seizure-hippocampal-microglia-tlr4-myd88-signaling-and-inhibits-tlr4-gene-expression-via-histone-acetylation
#7
Qing-Peng Hu, Ding-An Mao
BACKGROUND: Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. Seizure-induced TLR4/MYD88 signaling plays a critical role in activating microglia and triggering neuron apoptosis. SAHA is a histone deacetylase inhibitor that regulates gene expression by increasing chromatin histone acetylation. In this study, we investigated the role of SAHA in TLR4/MYD88 signaling in a rat seizure model. RESULTS: Sprague-Dawley rats with kainic acid (KA)-induced seizures were treated with SAHA...
2016: BMC Neuroscience
https://www.readbyqxmd.com/read/27168769/non-invasive-treatment-options-for-focal-cortical-dysplasia
#8
Ting-Ting Wang, Dong Zhou
Focal cortical dysplasia (FCD) presents a strong clinical challenge especially for the treatment of the associated epilepsy. Epilepsy in FCD is often treatment-resistant and constitutes 50% of treatment-resistant cases. Antiepileptic drugs (AEDs) have been widely used in the treatment of FCD. However, evidence to suggest their specific effect on the treatment of FCD remains to be established. In view of this resistance, several alternative treatments have been suggested. Although treatment currently involves surgical management, non-invasive treatments have been identified...
May 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27106595/an-atypical-12q24-31-microdeletion-implicates-six-genes-including-a-histone-demethylase-kdm2b-and-a-histone-methyltransferase-setd1b-in-syndromic-intellectual-disability
#9
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, Il-Keun Kong, Michael P Diamond, Lawrence C Layman, Cheol-Hee Kim, Hyung-Goo Kim
Microdeletion syndromes are frequent causes of neuropsychiatric disorders leading to intellectual disability as well as autistic features accompanied by epilepsy and craniofacial anomalies. From comparative deletion mapping of the smallest microdeletion to date at 12q24.31, found in a patient with overlapping clinical features of 12q24.31 microdeletion syndrome, we narrowed the putative critical region to 445 kb containing seven genes, one microRNA, and one non-coding RNA. Zebrafish in situ hybridization and comprehensive transcript analysis of annotated genes in the panels of human organ and brain suggest that these are all candidates for neurological phenotypes excluding the gene HPD...
July 2016: Human Genetics
https://www.readbyqxmd.com/read/27105115/metabolic-regulation-of-gene-expression-by-histone-lysine-%C3%AE-hydroxybutyrylation
#10
Zhongyu Xie, Di Zhang, Dongjun Chung, Zhanyun Tang, He Huang, Lunzhi Dai, Shankang Qi, Jingya Li, Gozde Colak, Yue Chen, Chunmei Xia, Chao Peng, Haibin Ruan, Matt Kirkey, Danli Wang, Lindy M Jensen, Oh Kwang Kwon, Sangkyu Lee, Scott D Pletcher, Minjia Tan, David B Lombard, Kevin P White, Hongyu Zhao, Jia Li, Robert G Roeder, Xiaoyong Yang, Yingming Zhao
Here we report the identification and verification of a β-hydroxybutyrate-derived protein modification, lysine β-hydroxybutyrylation (Kbhb), as a new type of histone mark. Histone Kbhb marks are dramatically induced in response to elevated β-hydroxybutyrate levels in cultured cells and in livers from mice subjected to prolonged fasting or streptozotocin-induced diabetic ketoacidosis. In total, we identified 44 histone Kbhb sites, a figure comparable to the known number of histone acetylation sites. By ChIP-seq and RNA-seq analysis, we demonstrate that histone Kbhb is a mark enriched in active gene promoters and that the increased H3K9bhb levels that occur during starvation are associated with genes upregulated in starvation-responsive metabolic pathways...
April 21, 2016: Molecular Cell
https://www.readbyqxmd.com/read/26858603/anticonvulsant-effect-of-time-restricted-feeding-in-a-pilocarpine-induced-seizure-model-metabolic-and-epigenetic-implications
#11
Jorge Landgrave-Gómez, Octavio Fabián Mercado-Gómez, Mario Vázquez-García, Víctor Rodríguez-Molina, Laura Córdova-Dávalos, Virginia Arriaga-Ávila, Alfredo Miranda-Martínez, Rosalinda Guevara-Guzmán
A new generation of antiepileptic drugs has emerged; however, one-third of epilepsy patients do not properly respond to pharmacological treatments. The purpose of the present study was to investigate whether time-restricted feeding (TRF) has an anticonvulsant effect and whether this restrictive diet promotes changes in energy metabolism and epigenetic modifications in a pilocarpine-induced seizure model. To resolve our hypothesis, one group of rats had free access to food and water ad libitum (AL) and a second group underwent a TRF schedule...
2016: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/26772991/a-genomic-view-on-epilepsy-and-autism-candidate-genes
#12
Kamel Jabbari, Peter Nürnberg
Epilepsy is a common complex disorder most frequently associated with psychiatric and neurological diseases. Massive parallel sequencing of individual or cohort genomes and exomes led the identification of several disease associated genes. We review here the candidate genes in epilepsy genetics with focus on exome and gene panel data. Together with the examination of brain expressed genes and post synaptic proteome the results show that: (1) Non-metabolic epilepsies and autism candidate genes tend to be AT-rich and (2) large transcript size and local AT-richness are characteristic features of genes involved in developmental brain disorders and synaptic functions...
July 2016: Genomics
https://www.readbyqxmd.com/read/26302787/advancing-epilepsy-genetics-in-the-genomic-era
#13
REVIEW
Candace T Myers, Heather C Mefford
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most common neurological conditions. The genetic basis of epilepsy is clear from epidemiological studies and from rare gene discoveries in large families. The three major classes of epilepsy disorders are genetic generalized, focal and encephalopathic epilepsies, with several specific disorders within each class. Advances in genomic technologies that facilitate genome-wide discovery of both common and rare variants have led to a rapid increase in our understanding of epilepsy genetics...
August 25, 2015: Genome Medicine
https://www.readbyqxmd.com/read/26260962/epilepsy-and-innate-immune-system-a-possible-immunogenic-predisposition-and-related-therapeutic-implications
#14
REVIEW
Nassim Matin, Omidreza Tabatabaie, Raffaele Falsaperla, Riccardo Lubrano, Piero Pavone, Fahad Mahmood, Melissa Gullotta, Agostino Serra, Paola Di Mauro, Salvatore Cocuzza, Giovanna Vitaliti
Recent experimental studies and pathological analyses of patient brain tissue samples with refractory epilepsy suggest that inflammatory processes and neuroinflammation plays a key-role in the etiopathology of epilepsy and convulsive disorders. These inflammatory processes lead to the secretion of pro-inflammatory cytokines responsible for blood-brain-barrier disruption and involvement of resident immune cells in the inflammation pathway, occurring within the Central Nervous System (CNS). These elements are produced through activation of Toll-Like Receptors (TLRs) by exogenous and endogenous ligands thereby increasing expression of cytokines and co-stimulatory molecules through the activation of TLRs 2, 3, 4, and 9 as reported in murine studies...
2015: Human Vaccines & Immunotherapeutics
https://www.readbyqxmd.com/read/25169058/phenotype-and-genotype-in-nicolaides-baraitser-syndrome
#15
REVIEW
Sérgio B Sousa, Raoul C Hennekam
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n = 47) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present...
September 2014: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/25117540/the-transcription-factor-nrsf-contributes-to-epileptogenesis-by-selective-repression-of-a-subset-of-target-genes
#16
Shawn McClelland, Gary P Brennan, Celine Dubé, Seeta Rajpara, Shruti Iyer, Cristina Richichi, Christophe Bernard, Tallie Z Baram
The mechanisms generating epileptic neuronal networks following insults such as severe seizures are unknown. We have previously shown that interfering with the function of the neuron-restrictive silencer factor (NRSF/REST), an important transcription factor that influences neuronal phenotype, attenuated development of this disorder. In this study, we found that epilepsy-provoking seizures increased the low NRSF levels in mature hippocampus several fold yet surprisingly, provoked repression of only a subset (∼10%) of potential NRSF target genes...
2014: ELife
https://www.readbyqxmd.com/read/25092546/re-1-silencing-transcription-factor-rest-a-regulator-of-neuronal-development-and-neuronal-endocrine-function
#17
REVIEW
Gerald Thiel, Myriam Ekici, Oliver G Rössler
RE-1 silencing transcription factor (REST) is a transcriptional repressor that has been proposed to function as a master negative regulator of neurogenesis, as REST target genes encode neuronal receptors, ion channels, neuropeptides and synaptic proteins. During neuronal differentiation, REST expression levels are reduced, allowing expression of selected REST target genes. The analysis of neural stem/progenitor cells that are either devoid of REST or overexpress REST revealed that REST is not the master regulator that is solely responsible for the acquisition of the neuronal fate...
January 2015: Cell and Tissue Research
https://www.readbyqxmd.com/read/25081545/numerous-baf-complex-genes-are-mutated-in-coffin-siris-syndrome
#18
Noriko Miyake, Yoshinori Tsurusaki, Naomichi Matsumoto
Coffin-Siris syndrome (CSS; OMIM#135900) is a rare congenital anomaly syndrome characterized by intellectual disability, coarse face, hypertrichosis, and absence/hypoplasia of the fifth digits' nails. As the majority of patients are sporadic, an autosomal dominant inheritance model has been postulated. Recently, whole exome sequencing (WES) emerged as a comprehensive analytical method for rare variants. We applied WES on five CSS patients and found two de novo mutations in SMARCB1. SMARCB1 was completely sequenced in 23 CSS patients and the mutations were found in two more patients...
September 2014: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/24834135/chd2-haploinsufficiency-is-associated-with-developmental-delay-intellectual-disability-epilepsy-and-neurobehavioural-problems
#19
Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C Lionel, Christian R Marshall, Andrea K Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W Scherer, Emmanuelle Lemyre, Dimitri J Stavropoulos
BACKGROUND: The chromodomain helicase DNA binding domain (CHD) proteins modulate gene expression via their ability to remodel chromatin structure and influence histone acetylation. Recent studies have shown that CHD2 protein plays a critical role in embryonic development, tumor suppression and survival. Like other genes encoding members of the CHD family, pathogenic mutations in the CHD2 gene are expected to be implicated in human disease. In fact, there is emerging evidence suggesting that CHD2 might contribute to a broad spectrum of neurodevelopmental disorders...
2014: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/24456745/significance-of-higher-order-chromatin-architecture-for-neuronal-function-and-dysfunction
#20
REVIEW
Grzegorz M Wilczynski
Recent studies in neurons indicate that the large-scale chromatin architectural framework, including chromosome territories or lamina-associated chromatin, undergoes dynamic changes that represent an emergent level of regulation of neuronal gene-expression. This phenomenon has been implicated in neuronal differentiation, long-term potentiation, seizures, and disorders of neural plasticity such as Rett syndrome and epilepsy.
May 2014: Neuropharmacology
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