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epileptic encephalopathy

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https://www.readbyqxmd.com/read/29223473/-cryptogenic-west-syndrome-clinical-profile-response-to-treatment-and-prognostic-factors
#1
María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
INTRODUCTION: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin. OBJECTIVES: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors. PATIENTS AND METHODS: The study included a review of the medical records of 16 patients diagnosed with cryptogenic WS during the period, 2000-2015...
December 6, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29217678/hrpu-2-a-homologue-of-mammalian-hnrnp-u-regulates-synaptic-transmission-by-controlling-the-expression-of-slo-2-potassium-channel-in-c-elegans
#2
Ping Liu, Sijie Jason Wang, Zhao-Wen Wang, Bojun Chen
Slo2 channels are large-conductance potassium channels abundantly expressed in the nervous system. However, it is unclear how their expression level in neurons is regulated. Here we report that HRPU-2, an RNA-binding protein homologous to mammalian hnRNP U, plays an important role in regulating the expression of SLO-2 (a homologue of mammalian Slo2) in C. elegans Loss-of-function (lf) mutants of hrpu-2 were isolated in a genetic screen for suppressors of a sluggish phenotype caused by a hyperactive SLO-2. In hrpu-2(lf) mutants, SLO-2-mediated delayed outward currents in neurons are greatly decreased, and neuromuscular synaptic transmission is enhanced...
December 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29217410/munc18-1-haploinsufficiency-impairs-learning-and-memory-by-reduced-synaptic-vesicular-release-in-a-model-of-ohtahara-syndrome
#3
Albert Orock, Sreemathi Logan, Ferenc Deak
Ohtahara syndrome, also known as type 4 of Early Infantile Epileptic Encephalopathy with suppression bursts (EIEE-4) is currently an untreatable disorder that presents with seizures and impaired cognition. EIEE-4 patients have mutations most frequently in the STXBP1 gene encoding a Sec protein, munc18-1. The exact molecular mechanism of how these munc18-1 mutations cause impaired cognition, remains elusive. The leading haploinsufficiency hypothesis posits that mutations in munc18-1 render the protein unstable leading to its degradation...
December 4, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#4
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29203057/febrile-infection-related-epilepsy-syndrome-fires-with-super-refractory-status-epilepticus-revealing-autoimmune-encephalitis-due-to-gabaar-antibodies
#5
D Caputo, R Iorio, F Vigevano, L Fusco
BACKGROUND: Febrile infection-related epilepsy syndrome (FIRES) has been described as an epileptic encephalopathy of unknown etiology affecting previously healthy children following febrile illness. Despite large investigations on autoimmune pathogenesis no membrane antibodies has been associated since now. CASE STUDY: We report a 13 years-old girl with negative history for neurological or autoimmune disease that developed at the sixth day of high fever a super-refractory status epilepticus...
November 24, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29199027/10-patients-10-years-long-term-follow-up-of-cardiovascular-risk-factors-in-glut1-deficiency-treated-with-ketogenic-diet-therapies-a%C3%A2-prospective-multicenter-case-series
#6
Nicole Heussinger, Adela Della Marina, Andreas Beyerlein, Baerbel Leiendecker, Sofia Hermann-Alves, Robert Dalla Pozza, Joerg Klepper
BACKGROUND AND AIMS: Glut1 Deficiency (Glut1D) is caused by impaired glucose transport into brain. The resulting epileptic encephalopathy and movement disorders can be treated effectively by high-fat carbohydrate-restricted ketogenic diet therapies (KDT) mimicking fasting and providing ketones as an alternative cerebral fuel. Recently 6-24 months follow-ups of epileptic patients reported elevated blood lipids and intima thickening of the carotid artery raising concerns about potential cardiovascular risks by KDT...
November 11, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/29196314/simultaneous-impairment-of-neuronal-and-metabolic-function-of-mutated-gephyrin-in-a-patient-with-epileptic-encephalopathy
#7
Borislav Dejanovic, Tania Djémié, Nora Grünewald, Arvid Suls, Vanessa Kress, Florian Hetsch, Dana Craiu, Matthew Zemel, Padhraig Gormley, Dennis Lal, Candace T Myers, Heather C Mefford, Aarno Palotie, Ingo Helbig, Jochen C Meier, Peter De Jonghe, Sarah Weckhuysen, Guenter Schwarz
No abstract text is available yet for this article.
December 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29191246/munc18-1-gene-abnormalities-are-involved-in-neurodevelopmental-disorders-through-defective-cortical-architecture-during-brain-development
#8
Nanako Hamada, Ikuko Iwamoto, Hidenori Tabata, Koh-Ichi Nagata
While Munc18-1 interacts with Syntaxin1 and controls the formation of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNARE) complex to regulate presynaptic vesicle fusion in developed neurons, this molecule is likely to be involved in brain development since its gene abnormalities cause early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome), neonatal epileptic encephalopathy and other neurodevelopmental disorders. We thus analyzed physiological significance of Munc18-1 during cortical development...
November 30, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#9
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29186148/a-case-control-collapsing-analysis-identifies-epilepsy-genes-implicated-in-trio-sequencing-studies-focused-on-de-novo-mutations
#10
Xiaolin Zhu, Raghavendra Padmanabhan, Brett Copeland, Joshua Bridgers, Zhong Ren, Sitharthan Kamalakaran, Ailbhe O'Driscoll-Collins, Samuel F Berkovic, Ingrid E Scheffer, Annapurna Poduri, Davide Mei, Renzo Guerrini, Daniel H Lowenstein, Andrew S Allen, Erin L Heinzen, David B Goldstein
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing analysis recovers genes causing dominant forms of EE originally implicated by DNM analysis. We performed a genome-wide search for an enrichment of "qualifying variants" in protein-coding genes in 488 unrelated cases compared to 12,151 unrelated controls. These "qualifying variants" were selected to be extremely rare variants predicted to functionally impact the protein to enrich for likely pathogenic variants...
November 29, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29182948/mozart-s-music-in-children-with-drug-refractory-epileptic-encephalopathies-comparison-of-two-protocols
#11
Giangennaro Coppola, Francesca Felicia Operto, Francesca Caprio, Giuseppe Ferraioli, Simone Pisano, Andrea Viggiano, Alberto Verrotti
In this prospective, randomized, open label study, we compared the effect on seizure recurrence and quality-of-life parameters, of two different protocols of music therapy in children and adolescents with refractory epileptic encephalopathies. Nine out of 19 patients (13 males and 6 females, aged between 1 and 24years) were randomized to listen to Mozart's sonata in D major for two pianos K448 for 2h/day for 2weeks; other 10 children were randomized on a set of Mozart's compositions. In group 1 (K448), 2/9 children (22...
November 25, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29179102/electroencephalographic-findings-in-anti-n-methyl-d-aspartate-receptor-encephalitis-in-children-a-series-of-12-patients
#12
Mirac Yildirim, Bahadir Konuskan, Dilek Yalnizoglu, Haluk Topaloglu, Ilknur Erol, Banu Anlar
OBJECTIVE: Anti-N-methyl-d-aspartate receptor encephalitis (a-NMDARe) is an acute or subacute encephalopathy where electroencephalogram (EEG) is frequently obtained as part of the workup. Although no diagnostic EEG finding has been described so far, the definition of specific or typical patterns might help to distinguish this group among various encephalopathies of childhood. We examined EEG recordings of our patients with a-NMDARe in order to describe the most frequent findings. METHODS: Clinical and laboratory data and digital EEG recordings of 12 pediatric patients diagnosed with a-NMDARe in two major child neurology centers are evaluated...
November 24, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29178108/-iodinated-contrast-induced-encephalopathy-a-pathology-that-must-be-borne-in-mind-when-carrying-out-endovascular-examinations
#13
M I Morales-Casado, F Munoz-Escudero, J M Garcia-Benassi, R Almansa-Castillo, J C Segundo-Rodriguez, J A Garrido-Robres, C Marsal-Alonso
INTRODUCTION: In recent years there has been an increase in the number of endovascular examinations in the study of both cardiovascular and cerebrovascular diseases. One very infrequent complication is neurotoxicity due to contrast, and it must be suspected within the context of a neurological deficit following such examinations in order to be able to diagnose it. CASE REPORT: A 61-year-old male who presented an epileptic attack and later deficit in the left hemisphere following diagnostic arteriography...
December 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/29176138/clinical-manifestations-and-amplitude-integrated-encephalogram-in-neonates-with-early-onset-epileptic-encephalopathy
#14
Li-Li Liu, Xin-Lin Hou, Dan-Dan Zhang, Guo-Yu Sun, Cong-Le Zhou, Yi Jiang, Ze-Zhong Tang, Rui Zhang, Yun Cui
BACKGROUND: The patients with early-onset epileptic encephalopathy (EOEE) suffer from neurodevelopmental delay. The aim of this study was to analyze the clinical manifestations and amplitude-integrated encephalogram (aEEG) characteristics of infants with EOEE with onset within the neonatal period, to make early diagnosis to improve the prognosis. METHODS: One-hundred and twenty-eight patients with neonatal seizure were enrolled and followed up till 1 year old. Sixty-six neonates evolved into EOEE were as the EOEE group, the other 62 were as the non-EOEE (nEOEE) group...
December 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29173113/posterior-reversible-encephalopathy-syndrome-possibly-induced-by-pemetrexed-maintenance-therapy-for-lung-cancer-a-case-report-and-literature-review
#15
Gert-Jan Smets, Tine Loyson, Wim Van Paesschen, Philippe Demaerel, Kristiaan Nackaerts
Introduction Advances in systemic chemotherapy, molecular targeted therapy and immunotherapy have extended and improved the quality of life of patients with cancer. However, the central nervous system is very susceptible to complications of systemic cancer and its treatment. Posterior reversible encephalopathy syndrome (PRES) is a rare clinical and neuroradiologic entity which has garnered increasing recognition in the past two decades. Cancer patients are generally treated with cytotoxic agents, immunotherapy, molecular targeted therapies or glucosteroids which are more frequently associated with PRES...
November 24, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29171013/severe-infantile-onset-developmental-and-epileptic-encephalopathy-caused-by-mutations-in-autophagy-gene-wdr45
#16
Gemma L Carvill, Aijie Liu, Simone Mandelstam, Amy Schneider, Amy Lacroix, Matthew Zemel, Jacinta M McMahon, Luis Bello-Espinosa, Mark Mackay, Geoffrey Wallace, Michaela Waak, Jing Zhang, Xiaoling Yang, Stephen Malone, Yue-Hua Zhang, Heather C Mefford, Ingrid E Scheffer
Heterozygous de novo variants in the autophagy gene, WDR45, are found in beta-propeller protein-associated neurodegeneration (BPAN). BPAN is characterized by adolescent onset dementia and dystonia; 66% patients have seizures. We asked whether WDR45 was associated with developmental and epileptic encephalopathy (DEE). We performed next generation sequencing of WDR45 in 655 patients with developmental and epileptic encephalopathies. We identified 3/655 patients with DEE plus 4 additional patients with de novo WDR45 pathogenic variants (6 truncations, 1 missense); all were female...
November 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/29162865/gaba-a-receptor-coupling-junction-and-pore-gabrb3-mutations-are-linked-to-early-onset-epileptic-encephalopathy
#17
Ciria C Hernandez, Yujia Zhang, Ningning Hu, Dingding Shen, Wangzhen Shen, Xiaoyan Liu, Weijing Kong, Yuwu Jiang, Robert L Macdonald
GABAA receptors are brain inhibitory chloride ion channels. Here we show functional analyses and structural simulations for three de novo missense mutations in the GABAA receptor β3 subunit gene (GABRB3) identified in patients with early-onset epileptic encephalopathy (EOEE) and profound developmental delay. We sought to obtain insights into the molecular mechanisms that might link defects in GABAA receptor biophysics and biogenesis to patients with EOEE. The mutant residues are part of conserved structural domains such as the Cys-loop (L170R) and M2-M3 loop (A305V) that form the GABA binding/channel gating coupling junction and the channel pore (T288N), which are functionally coupled during receptor activation...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29156988/high-definition-transcranial-direct-current-stimulation-in-early-onset-epileptic-encephalopathy-a-case-study
#18
Oded Meiron, Rena Gale, Julia Namestnic, Odeya Bennet-Back, Jonathan David, Nigel Gebodh, Devin Adair, Zeinab Esmaeilpour, Marom Bikson
PRIMARY OBJECTIVE: Early onset epileptic encephalopathy is characterized by high daily seizure-frequency, multifocal epileptic discharges, severe psychomotor retardation, and death at infancy. Currently, there are no effective treatments to alleviate seizure frequency and high-voltage epileptic discharges in these catastrophic epilepsy cases. The current study examined the safety and feasibility of High-Definition transcranial direct current stimulation (HD-tDCS) in reducing epileptiform activity in a 30-month-old child suffering from early onset epileptic encephalopathy...
November 20, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29144225/prevalence-of-genetic-disorders-and-glut1-deficiency-in-a-ketogenic-diet-clinic
#19
Stacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, Elizabeth Imhof, Jaina Patel, Maria Zak, Elizabeth J Donner, Jeff Kobayashi, Gajja S Salomons, Saadet Mercimek-Andrews
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies...
November 16, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29133062/anatomical-and-physiological-basis-of-continuous-spike-wave-of-sleep-syndrome-after-early-thalamic-lesions
#20
Alberto Leal, Eulália Calado, José P Vieira, Carla Mendonça, José C Ferreira, Hugo Ferreira, Daniel Carvalho, Fátima Furtado, Roseli Gomes, José P Monteiro
OBJECTIVE: Early neonatal thalamic lesions account for about 14% of continuous spike-wave of sleep (CSWS) syndrome, representing the most common etiology in this epileptic encephalopathy in children, and promise useful insights into the pathophysiology of the disease. METHODS: We describe nine patients with unilateral neonatal thalamic lesions which progressed to CSWS. Longitudinal whole-night and high-density electroencephalograms (EEGs) were performed, as well as detailed imaging and clinical evaluation...
November 10, 2017: Epilepsy & Behavior: E&B
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