keyword
MENU ▼
Read by QxMD icon Read
search

Dna epilepsy

keyword
https://www.readbyqxmd.com/read/29441694/presynaptic-congenital-myasthenic-syndrome-with-altered-synaptic-vesicle-homeostasis-linked-to-compound-heterozygous-sequence-variants-in-rph3a
#1
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/29407793/promoter-analysis-and-transcriptional-regulation-of-human-carbonic-anhydrase-viii-gene-in-a-merrf-disease-cell-model
#2
Che-Min Lo, Yi-Shing Ma, Yau-Huei Wei, Benjamin Y T Hsieh, Mingli Hsieh
Myoclonic epilepsy with ragged-red fibers (MERRF) is a maternally inherited mitochondrial neuromuscular disease. We previously reported a significant decrease of mRNA and protein levels of nuclear DNA-encoded carbonic anhydrase VIII (CA8) in MERRF cybrids harboring A8344G mutation in mitochondrial DNA (mtDNA). In this study, we established a reporter construct of luciferase gene-carrying hCA8 promoter containing several putative transcription factor-binding sites, including GC-box, AP-2 and TATA-binding element in the 5'flanking region of the hCA8 gene...
January 31, 2018: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/29321710/cytokine-polymorphism-and-hla-genotyping-in-patients-with-temporal-lobe-epilepsy-related-to-hippocampal-sclerosis
#3
Ayşe Altintaş, Çiğdem Özkara, Melis Sohtaoğlu Sevindik, Mustafa Uzan, Çiğdem Kekik Çinar, Ömer Uysal, Fatma Savran Oğuz
Objective: Hippocampal sclerosis (HS) is the most common pathological substrate associated with mesial temporal lobe epilepsy (MTLE), where inflammatory processes are known to play an increasingly important role in the pathogenesis. To further investigate the role of the immune system, both cytokine gene polymorphisms and human leukocyte antigen (HLA) genotyping in patients with MTLE-HS were investigated. Methods: The DNA samples of 100 patients with MTLE-HS and 201 healthy individuals were genotyped for cytokines (IL-6,IL-10, TNF-α, TGF-β1 and IFN-γ) and HLA using polymerase chain reaction (PCR)-SSP and SSO methods...
December 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29307761/a-frame-shift-deletion-in-the-pura-gene-associates-with-a-new-clinical-finding-hypoglycorrhachia-is-glut1-a-new-pura-target
#4
Lía Mayorga, Beatriz Gamboni, Alejandra Mampel, María Roqué
PURA is a DNA/RNA-binding protein known to have an important role as a transcriptional and translational regulator. Mutations in the PURA gene have been documented to cause mainly a neurologic phenotype including hypotonia, epilepsy, development delay and respiratory alterations. We report here a patient with a frame-shift deletion in the PURA gene that apart from the classical PURA deficiency phenotype had marked hypoglycorrhachia, overlapping the clinical findings with a GLUT1 deficiency syndrome. SLC2A1 (GLUT1) mutations were discarded, so we hypothesized that GLUT1 could be downregulated in this PURA deficient scenario...
January 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29299381/the-m-7510t-c-mutation-hearing-impairment-and-a-complex-neurologic-phenotype
#5
Laura Kytövuori, Maria Gardberg, Kari Majamaa, Mika H Martikainen
Objectives: Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds. Materials and Methods: We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29288969/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-40-year-old-patient-with-the-a8344g-mutation-of-mitochondrial-dna-and-merrf-myoclonic-epilepsy-with-ragged-red-fibers-syndrome
#6
Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Hui-Wen Ko, Huai-En Lu, Yen-Chun Chen, Chia-Ling Tsai, Yi-Chao Hsu, Yau-Huei Wei, Patrick C H Hsieh
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient...
December 19, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29278894/asymmetric-ataxia-depression-memory-loss-epilepsy-and-axonal-neuropathy-associated-with-a-heterozygous-dna-polymerase-gamma-variant-of-uncertain-significance-c1370g-a-r457q
#7
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Mutations in the gene encoding DNA polymerase gamma (POLG) impair its ability to proofread mitochondrial DNA (mtDNA) during replication [1]. This results in a high frequency of randomly distributed mtDNA mutations and thus a wide range of phenotypes, including seizures, neuropathy, and cerebellar ataxia [1, 2]. We document a phenotype associated with the rare POLG variant c.1370G>A (p.R457Q). METHODS: Over 10 years, we performed electrodiagnostic and neuropsychologic on a patient who presented with a variety of neurologic symptoms...
December 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29258966/sensitive-quantitative-detection-of-somatic-mosaic-mutation-in-double-cortex-syndrome
#8
John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand
Somatic mutation of the lissencephaly-1 gene is a cause of subcortical band heterotopia ("double cortex"). The severity of the phenotype depends on the level of mutation in brain tissue. Detecting and quantifying low-level somatic mosaic mutations is challenging. Here, we utilized droplet digital PCR, a sensitive method to detect low-level mutation. Droplet digital PCR was used in concert with classic genotyping techniques (SNaPshot assays and pyrosequencing) to detect and characterize the tissue mosaicism of a somatic mutation (LIS1 c...
December 20, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29237403/isolated-and-repeated-stroke-like-episodes-in-a-middle-aged-man-with-a-mitochondrial-nd3-t10158c-mutation-a-case-report
#9
Satomi Mezuki, Kenji Fukuda, Tomonaga Matsushita, Yoshihisa Fukushima, Ryu Matsuo, Yu-Ichi Goto, Takehiro Yasukawa, Takeshi Uchiumi, Dongchon Kang, Takanari Kitazono, Tetsuro Ago
BACKGROUND: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, is the most common phenotype of mitochondrial disease. It often develops in childhood or adolescence, usually before the age of 40, in a maternally-inherited manner. Mutations in mitochondrial DNA (mtDNA) are frequently responsible for MELAS. CASE PRESENTATION: A 55-year-old man, who had no family or past history of mitochondrial disorders, suddenly developed bilateral visual field constriction and repeated stroke-like episodes...
December 13, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29224958/renal-involvement-in-neuropathy-ataxia-retinitis-pigmentosa-narp-syndrome-a-case-report
#10
Sandrine Lemoine, Marine Panaye, Maud Rabeyrin, Elisabeth Errazuriz-Cerda, Bénédicte Mousson de Camaret, Philippe Petiot, Laurent Juillard, Fitsum Guebre-Egziabher
We report a case of a patient who had the mitochondrial cytopathy complex of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome diagnosed at age 11 years with a biopsy-proven kidney involvement that progressed to end-stage renal disease at age 21 years. Mutations of mitochondrial DNA (mtDNA) are maternally inherited and lead to mitochondrial cytopathies with predominant neurologic manifestations: psychomotor retardation, epilepsy, ataxia, neuropathy, and myopathy. Given the ubiquitous nature of mitochondria, cellular dysfunction can also appear in tissues with high metabolic turnover; thus, there can be cardiac, digestive, ophthalmologic, and kidney complications...
December 7, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29213033/-epigenetic-modifications-of-chromatin-in-epilepsy-a-potential-mechanism-of-pharmacoresistance
#11
L S Sokhranyaeva, V A Aniol, N V Gulyaeva
Pharmacoresistance in epilepsy is an important problem from both clinical and fundamental perspectives. The existent hypotheses of pharmacoresistance are based on long term plastic rebuilding of the epileptic brain. One of potential mechanisms mediating such protracted changes are alterations of gene expression induced by epigenetic modifications of chromatin in brain cells of epileptic patients. Recently, changes in DNA methylation and histone post-translational modifications were reported in brain tissues of patients with pharmacoresistant epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29195226/the-viral-hypothesis-of-mesial-temporal-lobe-epilepsy-is-human-herpes-virus-6-the-missing-link-a-systematic-review-and-meta-analysis
#12
P Wipfler, N Dunn, O Beiki, E Trinka, A Fogdell-Hahn
PURPOSE: Mesial temporal lobe epilepsy (MTLE) is a common epileptic disorder. Although likely multifactorial, the mechanisms underlying the etiology and pathogenesis of the disease remains unknown in majority of patients. Viruses, particularly Human Herpes Virus 6A and B (HHV-6), two neurotropic herpes viruses, have been implicated in MTLE due to their ubiquitous nature and ability to establish lifelong latency with risk of reactivation. However, the results of studies investigating this relationship are conflicting...
November 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29187863/smooth-an-hnrnp-l-homolog-might-decrease-mitochondrial-metabolism-by-post-transcriptional-regulation-of-isocitrate-dehydrogenase-idh-and-other-metabolic-genes-in-the-sub-acute-phase-of-traumatic-brain-injury
#13
Arko Sen, Katherine Gurdziel, Jenney Liu, Wen Qu, Oluwademi O Nuga, Rayanne B Burl, Maik Hüttemann, Roger Pique-Regi, Douglas M Ruden
Traumatic brain injury (TBI) can cause persistent pathological alteration of neurons. This may lead to cognitive dysfunction, depression and increased susceptibility to life threatening diseases, such as epilepsy and Alzheimer's disease. To investigate the underlying genetic and molecular basis of TBI, we subjected w1118Drosophila melanogaster to mild closed head trauma and found that mitochondrial activity is reduced in the brains of these flies 24 h after inflicting trauma. To determine the transcriptomic changes after mild TBI, we collected fly heads 24 h after inflicting trauma, and performed RNA-seq analyses...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29171123/investigation-of-known-genetic-mutations-of-arabian-horses-in-egyptian-arabian-foals-with-juvenile-idiopathic-epilepsy
#14
M Aleman, C J Finno, K Weich, M C T Penedo
BACKGROUND: The carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown. HYPOTHESIS/OBJECTIVES: To determine the carrier status of LFS, CA, SCID, and OAAM1 in foals with JIE. ANIMALS: Ten foals with JIE. MATERIALS AND METHODS: Archived DNA samples were tested for known genetic mutations causing LFS, CA, SCID, and OAAM1...
January 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29156319/large-scale-analysis-of-herpesviridae-in-epilepsy-patients-with-signs-of-autoimmune-encephalitis
#15
Freya Poulheim, Laura Esposito, Christian E Elger, Anna M Eis-Hübinger, Albert J Becker, Pitt Niehusmann
PURPOSE: Epilepsy is one of the most common primary brain disorders. Nonparaneoplastic autoimmune encephalitis is increasingly recognized as an important cause of adult onset epilepsy. However, only in rare cases an initiating factor of the syndrome can be identified. Autoantibody detection after central nervous herpesvirus infection indicates a postviral etiology in a subgroup of patients. In order to analyze a possible underrecognition of postinfectious autoimmunity we performed a large-scale analysis of herpesvirus DNA in cerebrospinal fluid samples from patients with clinical signs of autoimmune encephalitis...
November 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#16
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29120117/is-apolipoprotein-e-%C3%AE%C2%B52-associated-with-delayed-onset-of-non-lesional-temporal-lobe-epilepsy
#17
Davor Sporiš, Silvio Bašić, Jadranka Sertić, Darija Mahović Lakušić, Tomislav Babić
The aim of the study was to evaluate the possible association between Apo E polymorphisms and age at seizure onset in patients with non-lesional temporal lobe epilepsy. Eighty patients with non-lesional temporal lobe epilepsy with or without bilateral tonic-clonic propagation were analyzed. Age at seizure onset was defined as age at the first unequivocal seizure (excluding febrile convulsions). ApoE alleles were determined by a procedure where genome DNA was amplified by chain reaction along with polymerase, using the LightCycler kit (Roche) for ApoE mutations on codons 112 and 158...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29108277/exome-sequencing-identified-a-novel-missense-mutation-c-464g-a-p-g155d-in-ca-2-binding-protein-4-cabp4-in-a-chinese-pedigree-with-autosomal-dominant-nocturnal-frontal-lobe-epilepsy
#18
Zhi-Hong Chen, Chun Wang, Mu-Qing Zhuo, Qiong-Xiang Zhai, Qian Chen, Yu-Xiong Guo, Yu-Xin Zhang, Juan Gui, Zhi-Hong Tang, Xiao-Lu Zeng
The aim of this study was to identify disease-causing gene mutations in a Chinese family affected with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a 4-generation pedigree of 27 members in the Southern Chinese Han population, including 11 individuals diagnosed with ADNFLE. DNA samples were collected from 15 family members, chinese han people, including seven affected and eight unaffected individuals. None of these patients had night blindness or visual disorders. Four affected individuals were screened for mutations using whole-exome sequencing, and 13 potentially interesting mutations shared by all the four affected individuals were validated using the Sanger sequencing method...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29058119/comprehensive-molecular-characterisation-of-epilepsy-associated-glioneuronal-tumours
#19
Thomas J Stone, Angus Keeley, Alex Virasami, William Harkness, Martin Tisdall, Elisa Izquierdo Delgado, Alice Gutteridge, Tony Brooks, Mark Kristiansen, Jane Chalker, Lisa Wilkhu, William Mifsud, John Apps, Maria Thom, Mike Hubank, Tim Forshew, J Helen Cross, Darren Hargrave, Jonathan Ham, Thomas S Jacques
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification...
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29054413/a-2-bp-deletion-in-the-mitochondrial-atp-6-gene-responsible-for-the%C3%A2-narp-neuropathy-ataxia-and-retinitis-pigmentosa-syndrome
#20
Patrick Mordel, Stéphane Schaeffer, Quentin Dupas, Marie-Alice Laville, Marion Gérard, Françoise Chapon, S Allouche
Mitochondrial (mt) DNA-associated NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) syndrome is due to mutation in the MT-ATP6 gene. We report the case of a 18-year-old man who presented with deafness, a myoclonic epilepsy, muscle weakness since the age of 10 and further developed a retinitis pigmentosa and ataxia. The whole mtDNA analysis by next-generation sequencing revealed the presence of the 2 bp microdeletion m.9127-9128 del AT in the ATP6 gene at 82% heteroplasmy in muscle and to a lower load in blood (10-20%) and fibroblasts (50%)...
December 9, 2017: Biochemical and Biophysical Research Communications
keyword
keyword
31504
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"