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https://www.readbyqxmd.com/read/28639593/synaptic-roles-of-cyclin-dependent-kinase-5-its-implications-in-epilepsy
#1
REVIEW
Aparna Banerjee Dixit, Jyotirmoy Banerjee, Manjari Tripathi, Chitra Sarkar, P Sarat Chandra
There is an urgent need to understand the molecular mechanisms underlying epilepsy to find novel prognostic/diagnostic biomarkers to prevent epilepsy patients at risk. Cyclin-dependent kinase 5 (CDK5) is involved in multiple neuronal functions and plays a crucial role in maintaining homeostatic synaptic plasticity by regulating intracellular signalling cascades at synapses. CDK5 deregulation is shown to be associated with various neurodegenerative diseases such as Alzheimer's disease. The association between chronic loss of CDK5 and seizures has been reported in animal models of epilepsy...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#2
Bruna Priscila Dos Santos, Chiara Rachel Maciel Marinho, Thalita Ewellyn Batista Sales Marques, Layanne Kelly Gomes Angelo, Maísa Vieira da Silva Malta, Marcelo Duzzioni, Olagide Wagner de Castro, João Pereira Leite, Fabiano Timbó Barbosa, Daniel Leite Góes Gitaí
BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality...
2017: PloS One
https://www.readbyqxmd.com/read/28633043/de-novo-12q22-q23-3-duplication-associated-with-temporal-lobe-epilepsy
#3
Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara
PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients...
June 15, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#4
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#5
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28620870/severe-growth-deficiency-microcephaly-intellectual-disability-and-characteristic-facial-features-are-due-to-a-homozygous-qars-mutation
#6
Esther Leshinsky-Silver, Jiqiang Ling, Jiang Wu, Chana Vinkler, Keren Yosovich, Sarit Bahar, Miri Yanoov-Sharav, Tally Lerman-Sagie, Dorit Lev
Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and intellectual disability in two sisters of Ashkenazi-Jewish origin (Eur J Med Genet 2014;57(6):288-92)...
June 15, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28620084/multidimensional-genetic-analysis-of-repeated-seizures-in-the-hybrid-mouse-diversity-panel-reveals-a-novel-epileptogenesis-susceptibility-locus
#7
Russell J Ferland, Jason Smith, Dominick Papandrea, Jessica Gracias, Leah Hains, Sridhar B Kadiyala, Brittany O'Brien, Eun Yong Kang, Barbara S Beyer, Bruce J Herron
Epilepsy has many causes and comorbidities affecting as many as 4% of people in their lifetime. Both idiopathic and symptomatic epilepsies are highly heritable, but genetic factors are difficult to characterize among humans due to complex disease etiologies. Rodent genetic studies have been critical to the discovery of seizure susceptibility loci, including Kcnj10 mutations identified in both mouse and human cohorts. However, genetic analyses of epilepsy phenotypes in mice to date have been carried out as acute studies in seizure-naive animals or in Mendelian models of epilepsy, while humans with epilepsy have a history of recurrent seizures that also modify brain physiology...
June 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28617386/-l-2-hydroxyglutaric-aciduria-caused-by-a-new-mutation-in-the-l2hgdh-gene
#8
E V Saifullina, E Yu Zakharova, M V Kurkina, R V Magzhanov, E V Gaisina, E N Zakirova
The authors present a case-report of 13 year-old girl with L-2-hydroxyglutaric aciduria [MIM#236792], a rare autosomal/recessive metabolic disorder caused by mutations in the L-encoding 2-hydroxyglutarate dehydrogenase (L2HGDH, 14q21.3). Clinical signs of the disease are presented by predominantly neurological symptoms (epilepsy, cerebellar ataxia, cognitive impairment). The distinctive feature is the specific multifocal lesion of the white matter detected on MRI. The characteristic neuroimaging picture and positive results of biochemical and molecular genetic diagnosis were identified...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28615892/molecular-genetics-of-epilepsy-a-clinician-s-perspective
#9
REVIEW
Vikas Dhiman
Epilepsy is a common neurological problem, and there is a genetic basis in almost 50% of people with epilepsy. The diagnosis of genetic epilepsies makes the patient assured of the reasons of his/her seizures and avoids unnecessary, expensive, and invasive investigations. Last decade has shown tremendous growth in gene sequencing technologies, which have made genetic tests available at the bedside. Whole exome sequencing is now being routinely used in the clinical setting for making a genetic diagnosis. Genetic testing not only makes the diagnosis but also has an effect on the management of the patients, for example, the role of sodium channels blockers in SCN1A+ Dravet syndrome patients and usefulness of ketogenic diet therapy in SLC2A1+ generalized epilepsy patients...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28611597/functional-properties-of-human-nmda-receptors-associated-with-epilepsy-related-mutations-of-glun2a-subunit
#10
Dmitry A Sibarov, Nadine Bruneau, Sergei M Antonov, Pierre Szepetowski, Nail Burnashev, Rashid Giniatullin
Genetic variants of the glutamate activated N-methyl-D-aspartate (NMDA) receptor (NMDAR) subunit GluN2A are associated with the hyperexcitable states manifested by epileptic seizures and interictal discharges in patients with disorders of the epilepsy-aphasia spectrum (EAS). The variants found in sporadic cases and families are of different types and include microdeletions encompassing the corresponding GRIN2A gene as well as nonsense, splice-site and missense GRIN2A defects. They are located at different functional domains of GluN2A and no clear genotype-phenotype correlation has emerged yet...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28608743/obsessive-compulsive-disorder-which-genes-which-functions-which-pathways-an-integrated-holistic-view-regarding-ocd-and-its-complex-genetic-etiology
#11
Ali Bozorgmehr, Mohammad Ghadirivasfi, Esmaeil Shahsavand Ananloo
Obsessive-compulsive disorder (OCD) is characterized by recurrent obtrusive and repetitive acts typically occurred following anxiety. In the last two decades, studies done on the gene sequences, large-scale and point mutations and gene-gene, gene-environment and gene-drug interactions have led to the discovery of hundreds of genes associated with OCD. Although each gene in turn is a part of the etiology of this disorder; however, OCD, like other mental disorders is complex and a comprehensive and integrated view is necessary to understand its genetic basis...
June 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28608314/polymorphism-of-the-multidrug-resistance-1-gene-mdr1-g2677t-a-rs2032582-and-the-risk-of-drug-resistant-epilepsy-in-the-polish-adult-population
#12
Beata Smolarz, Dominik Skalski, Andrzej Rysz, Andrzej Marchel, Hanna Romanowicz, Marianna Makowska
The aim of this study was to analyse the frequency of genotypes and alleles of single-nucleotide polymorphism (SNP)-G2677T/A (rs2032582) of MDR1 gene and to investigate the significance this genetic variation exerts on drug-resistant epilepsy (DRE) in the Polish adult population. The study comprised 340 patients treated for DRE and 240 patients treated for drug-responsive epilepsy. Three hundred and sixty disease-free individuals were used as controls. Genomic DNA was isolated, and the SNP G2677T/A of MDR1 was determined by High-Resolution Melter technique...
June 12, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28608234/genomics-guided-precise-anti-epileptic-drug-development
#13
Norman Delanty, Gianpiero Cavallleri
Traditional antiepileptic drug development approaches have yielded many important clinically valuable anti-epileptic drugs. However, the screening of promising compounds has been naturally agnostic to epilepsy etiology in individual human patients. Now, genomic medicine is changing the way we view human disease. International collaborations are unraveling the many molecular genetic causes of the epilepsies, including the early onset epileptic encephalopathies, and some of the familial focal epilepsies. Further advances in precision diagnostics will be facilitated by ongoing large collaborations and the wider availability of whole exome and whole genome sequencing in clinical practice...
June 12, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28607533/cysteinyl-leukotrienes-as-potential-pharmacological-targets-for-cerebral-diseases
#14
REVIEW
Paolo Gelosa, Francesca Colazzo, Elena Tremoli, Luigi Sironi, Laura Castiglioni
Cysteinyl leukotrienes (CysLTs) are potent lipid mediators widely known for their actions in asthma and in allergic rhinitis. Accumulating data highlights their involvement in a broader range of inflammation-associated diseases such as cancer, atopic dermatitis, rheumatoid arthritis, and cardiovascular diseases. The reported elevated levels of CysLTs in acute and chronic brain lesions, the association between the genetic polymorphisms in the LTs biosynthesis pathways and the risk of cerebral pathological events, and the evidence from animal models link also CysLTs and brain diseases...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28603559/three-immune-mediated-disease-models-induced-by-theiler-s-virus-multiple-sclerosis-seizures-and-myocarditis
#15
Ikuo Tsunoda, Fumitaka Sato, Seiichi Omura, Mitsugu Fujita, Namie Sakiyama, Ah-Mee Park
Theiler's murine encephalomyelitis virus (TMEV) infection has been used as a viral model for multiple sclerosis (MS), as TMEV can induce chronic inflammatory demyelinating lesions with viral persistence in the spinal cord of SJL/J mice. In contrast, when C57BL/6 mice are infected with TMEV, the mice can clear the virus from the central nervous system (CNS), without viral persistence or demyelination, but develop seizures and hippocampal sclerosis, which has been used as a viral model for seizures/epilepsy. In the two TMEV-induced CNS disease models, not only viral infection, but also immune responses contribute to the pathogenesis...
November 2016: Clinical & Experimental Neuroimmunology
https://www.readbyqxmd.com/read/28596596/optical-mapping-of-neuronal-activity-during-seizures-in-zebrafish
#16
L Turrini, C Fornetto, G Marchetto, M C Müllenbroich, N Tiso, A Vettori, F Resta, A Masi, G Mannaioni, F S Pavone, F Vanzi
Mapping neuronal activity during the onset and propagation of epileptic seizures can provide a better understanding of the mechanisms underlying this pathology and improve our approaches to the development of new drugs. Recently, zebrafish has become an important model for studying epilepsy both in basic research and in drug discovery. Here, we employed a transgenic line with pan-neuronal expression of the genetically-encoded calcium indicator GCaMP6s to measure neuronal activity in zebrafish larvae during seizures induced by pentylenetretrazole (PTZ)...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28589518/forty-years-of-sodium-channels-structure-function-pharmacology-and-epilepsy
#17
William A Catterall
Voltage-gated sodium channels initiate action potentials in brain neurons. In the 1970s, much was known about the function of sodium channels from measurements of ionic currents using the voltage clamp method, but there was no information about the sodium channel molecules themselves. As a postdoctoral fellow and staff scientist at the National Institutes of Health, I developed neurotoxins as molecular probes of sodium channels in cultured neuroblastoma cells. During those years, Bruce Ransom and I crossed paths as members of the laboratories of Marshall Nirenberg and Philip Nelson and shared insights about sodium channels in neuroblastoma cells from my work and electrical excitability and synaptic transmission in cultured spinal cord neurons from Bruce's pioneering electrophysiological studies...
June 7, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#18
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28586508/overexpressing-wild-type-%C3%AE-2-subunits-rescued-the-seizure-phenotype-in-gabrg2-q390x-dravet-syndrome-mice
#19
Xuan Huang, Chengwen Zhou, Mengnan Tian, Jing-Qiong Kang, Wangzhen Shen, Kelienne Verdier, Aurea Pimenta, Robert L MacDonald
OBJECTIVE: The mutant γ-aminobutyric acid type A (GABAA ) receptor γ2(Q390X) subunit (Q351X in the mature peptide) has been associated with the epileptic encephalopathy, Dravet syndrome, and the epilepsy syndrome genetic epilepsy with febrile seizures plus (GEFS+). The mutation generates a premature stop codon that results in translation of a stable truncated and misfolded γ2 subunit that accumulates in neurons, forms intracellular aggregates, disrupts incorporation of γ2 subunits into GABAA receptors, and affects trafficking of partnering α and β subunits...
June 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28584127/dynamic-changes-in-murine-forebrain-mir-211-expression-associate-with-cholinergic-imbalances-and-epileptiform-activity
#20
Uriya Bekenstein, Nibha Mishra, Dan Z Milikovsky, Geula Hanin, Daniel Zelig, Liron Sheintuch, Amit Berson, David S Greenberg, Alon Friedman, Hermona Soreq
Epilepsy is a common neurological disease, manifested in unprovoked recurrent seizures. Epileptogenesis may develop due to genetic or pharmacological origins or following injury, but it remains unclear how the unaffected brain escapes this susceptibility to seizures. Here, we report that dynamic changes in forebrain microRNA (miR)-211 in the mouse brain shift the threshold for spontaneous and pharmacologically induced seizures alongside changes in the cholinergic pathway genes, implicating this miR in the avoidance of seizures...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
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