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https://www.readbyqxmd.com/read/28681401/prevalence-and-outcome-of-late-onset-seizures-due-to-autoimmune-etiology-a-prospective-observational-population-based-cohort-study
#1
Felix von Podewils, Marie Suesse, Julia Geithner, Bernadette Gaida, Zhong I Wang, Julia Lange, Alexander Dressel, Matthias Grothe, Christof Kessler, Soenke Langner, Uwe Runge, Christian G Bien
OBJECTIVE: The increasing incidence of new-onset seizures with age is well known. Often, the etiology cannot be clarified. In the present study, patients with unprovoked late-onset seizures and without known neoplasm, who might have had paraneoplastic encephalitis, were investigated for a potentially underlying autoimmunity. METHODS: Sixty-six consecutive patients (36 women; aged ≥55 years) after having at least one seizure or seizures for ≤6 months were prospectively identified over a period of 4...
July 6, 2017: Epilepsia
https://www.readbyqxmd.com/read/28675559/neuroinflammation-in-epileptogenesis-insights-and-translational-perspectives-from-new-models-of-epilepsy
#2
Melissa L Barker-Haliski, Wolfgang Löscher, H Steve White, Aristea S Galanopoulou
Animal models have provided a wealth of information on mechanisms of epileptogenesis and comorbidogenesis, and have significantly advanced our ability to investigate the potential of new therapies. Processes implicating brain inflammation have been increasingly observed in epilepsy research. Herein we discuss the progress on animal models of epilepsy and comorbidities that inform us on the potential role of inflammation in epileptogenesis and comorbidity pathogenesis in rodent models of West syndrome and the Theiler's murine encephalomyelitis virus (TMEV) mouse model of viral encephalitis-induced epilepsy...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28669061/male-patients-affected-by-mosaic-pcdh19-mutations-five-new-cases
#3
I M de Lange, P Rump, R F Neuteboom, P B Augustijn, K Hodges, A I Kistemaker, O F Brouwer, G M S Mancini, H A Newman, Y J Vos, K L Helbig, C Peeters-Scholte, M Kriek, N V Knoers, D Lindhout, B P C Koeleman, M J A van Kempen, E H Brilstra
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature. Here, we report five additional male patients, of which four are older than the oldest patient reported so far. All reported patients were selected for genetic testing because of developmental delay and/or epilepsy...
July 1, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28667181/dnm1-encephalopathy-a-new-disease-of-vesicle-fission
#4
Sarah von Spiczak, Katherine L Helbig, Deepali N Shinde, Robert Huether, Manuela Pendziwiat, Charles Lourenço, Mark E Nunes, Dean P Sarco, Richard A Kaplan, Dennis J Dlugos, Heidi Kirsch, Anne Slavotinek, Maria R Cilio, Mackenzie C Cervenka, Julie S Cohen, Rebecca McClellan, Ali Fatemi, Amy Yuen, Yoshimi Sagawa, Rebecca Littlejohn, Scott D McLean, Laura Hernandez-Hernandez, Bridget Maher, Rikke S Møller, Elizabeth Palmer, John A Lawson, Colleen A Campbell, Charuta N Joshi, Diana L Kolbe, Georgie Hollingsworth, Bernd A Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E Scheffer, Sérgio D J Pena, Sanjay M Sisodiya, Ingo Helbig
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function...
June 30, 2017: Neurology
https://www.readbyqxmd.com/read/28665957/post-dengue-acute-disseminated-encephalomyelitis-a-case-report-and-meta-analysis
#5
Mohamed Gomaa Kamel, Nguyen Tran Nam, Nguyen Huu Bao Han, Abd-Elaziz El-Shabouny, Abd-ElRahman Mohamed Makram, Fatma Abd-Elshahed Abd-Elhay, Tran Ngoc Dang, Nguyen Le Trung Hieu, Vu Thi Que Huong, Trinh Huu Tung, Kenji Hirayama, Nguyen Tien Huy
BACKGROUND: Dengue is one of the most common infectious diseases. The aim of this study was to systematically review acute disseminated encephalomyelitis (ADEM) and to represent a new case. METHODOLOGY/PRINCIPAL FINDINGS: We searched for articles in nine databases for case reports, series or previous reviews reporting ADEM cases in human. We used Fisher's exact and Mann-Whitney U tests. Classification trees were used to find the predictors of the disease outcomes...
June 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28663780/new-insights-into-the-pathogenesis-and-prevention-of-tuberous-sclerosis-associated-neuropsychiatric-disorders-tand
#6
REVIEW
Tanjala T Gipson, Michael V Johnston
Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures...
2017: F1000Research
https://www.readbyqxmd.com/read/28658158/neonatal-onset-carbamoyl-phosphate-synthetase-i-deficiency-a-case-report
#7
Xiaoyan Yang, Jing Shi, Haihong Lei, Bin Xia, Dezhi Mu
RATIONALE: The carbamoyl phosphate synthetase I deficiency (CPS1D) was rare and hard to diagnose due to its atypical symptoms. Brain magnetic resonance imaging (MRI) was typically unavailable in other reports because most patients died before diagnosis was confirmed. Furthermore, it was found a new mutation that had not been described previously. PATIENT CONCERNS: This is a case of neonatal-onset CPS1D with nonspecific clinical manifestations and deteriorating rapidly...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28654855/clinical-profile-and-neurodevelopmental-outcome-of-new-onset-acute-symptomatic-seizures-in-children
#8
Vimlesh Soni, Pratibha Singhi, Arushi Gahlot Saini, Prabhjot Malhi, Radha K Ratho, Baijayantimala Mishra, Sunit C Singhi
PURPOSE: To study clinical profile, neurodevelopmental outcome and its predictors in children with acute symptomatic seizures (ASS). METHODS: Short-term neurodevelopmental outcome and predictors of poor outcomes were prospectively assessed in 105 consecutive children with ASS aged 3 months-12 years RESULTS: Mean age was 51.2+42.2months (3-144 months); 67.2% were males. Central nervous system (CNS) infection in 82%, status epilepticus in 15.2%, abnormal neuroimaging in 62...
June 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#9
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
June 26, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28623754/quality-of-life-mood-and-seizure-control-in-patients-with-brain-tumor-related-epilepsy-treated-with-lacosamide-as-add-on-therapy-a-prospective-explorative-study-with-a-historical-control-group
#10
Marta Maschio, Alessia Zarabla, Andrea Maialetti, Alessandra Fabi, Antonello Vidiri, Veronica Villani, Diana Giannarelli
OBJECTIVE: Brain tumor-related epilepsy (BTRE) is often drug resistant and patients can be forced to take polytherapy that can adversely affect their quality of life (QoL). Lacosamide (LCM) is a new antiepileptic drug (AED) used as adjunctive therapy in patients with partial seizures with or without secondary generalization, with a favorable pharmacokinetic profile that seems to be effective and well tolerated. Therefore it represents a possible therapeutic choice for patients with BTRE...
June 14, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28620498/diabetes-insipidus-and-hypopituitarism-in-hiv-an-unexpected-cause
#11
Carlos Tavares Bello, Francisco Sousa Santos, João Sequeira Duarte, Carlos Vasconcelos
Central diabetes insipidus (DI) is a rare clinical entity characterized by low circulating levels of antidiuretic hormone (ADH) presenting with polyuria and volume depletion. Pituitary surgery is the most common cause of central DI in adults. Pituitary and hypothalamic disease, particularly invasive neoplasms, rarely cause DI, being idiopathic cases responsible for the majority of non-surgical cases. HIV patients, especially those with poor virulogical control, are prone to the development of CNS neoplasms, particularly lymphomas...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28596596/optical-mapping-of-neuronal-activity-during-seizures-in-zebrafish
#12
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/28581210/reduced-cell-surface-levels-of-gpi-linked-markers-in-a-new-case-with-pigg-loss-of-function
#13
Jin James Zhao, Jonatan Halvardson, Alexej Knaus, Patrik Georgii-Hemming, Peter Baeck, Peter Krawitz, Ann-Charlotte Thuresson, Lars Feuk
Glycosylphosphatidylinositol (GPI) is a glycolipid that tethers more than 150 different proteins to the cell surface. Aberrations in biosynthesis of GPI anchors cause congenital disorders of glycosylation with clinical features including intellectual disability, seizures and facial dysmorphism. Here we present two siblings with intellectual disability, cerebellar hypoplasia, cerebellar ataxia, early onset seizures and minor facial dysmorphology. Using exome sequencing, we identified a homozygous nonsense variant (NM_001127178...
June 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28577562/current-role-of-perampanel-in-pediatric-epilepsy
#14
REVIEW
Paola De Liso, Romina Moavero, Giangennaro Coppola, Paolo Curatolo, Raffaella Cusmai, Giovambattista De Sarro, Emilio Franzoni, Federico Vigevano, Alberto Verrotti
Perampanel is among the latest AEDs approved, indicated for the treatment of partial-onset seizures with or without secondary generalization, and for primary generalized tonic-clonic seizures, in patients aged 12 years and older. This paper summarizes the clinical recommendations on the current role of perampanel in the treatment of pediatric epilepsies and future directions for research. The optimal dosage should be comprised between 4 and 12 mg/day, with 8 mg/day being the most common dosage used. The rate and severity of adverse events, including psychiatric symptoms, can be decreased by starting at low doses, and titrating slowly...
June 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28575765/the-influence-of-levetiracetam-on-psychosocial-and-behavioral-functioning-in-children-a-case-control-and-follow-up-study
#15
Gonca Bektaş, Uğur Tekin, Melis Ulak Özkan, Edibe Pembegül Yıldız, Mine Çalışkan, Meral Özmen, Nur Aydınlı
BACKGROUND: Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency. PURPOSE: The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28565984/novel-use-of-flow-diversion-for-the-treatment-of-aneurysms-associated-with-arteriovenous-malformations
#16
Craig Kilburg, Philipp Taussky, M Yashar S Kalani, Min S Park
The use of flow-diverting stents for intracranial aneurysms has become more prevalent, and flow diverters are now routinely used beyond their initial scope of approval at the proximal internal carotid artery. Although flow diversion for the treatment of cerebral aneurysms is becoming more commonplace, there have been no reports of its use to treat flow-related cerebral aneurysms associated with arteriovenous malformations (AVMs). The authors report the cases of 2 patients whose AVM-associated aneurysms were managed with flow diversion...
June 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#17
Dongli Zhang, Xiaoming Liu, Xingqiang Deng
Childhood epilepsy affects ~0.5-1% in the general population worldwide. Early-onset epileptic encephalopathies are considered to be severe neurological disorders, which lead to impaired motor, cognitive, and sensory development due to recurrence of seizures. Many of the observed epilepsy phenotypes are associated with specific chromosomal imbalances and thus display gene dosage effects, and also specific mutations of a variety of genes ranging from ion channels to transcription factors. High throughput sequencing technologies and whole exome sequencing have led to the recognition of several new candidate genes with a possible role in the pathogenesis of epileptic encephalopathies...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28562256/sporadic-insulinoma-presenting-as-early-morning-night-terrors
#18
Daniel Beisang, Gregory P Forlenza, Mark Luquette, Kyriakie Sarafoglou
A 16-year-old boy with a recent diagnosis of night terrors was evaluated for recurrent early morning hypoglycemia after an early morning seizure. Evaluation in clinic with critical laboratories identified hyperinsulinemic hypoglycemia. Additional investigation revealed a sporadic insulinoma as the etiology of his hypoglycemia and all symptoms were resolved after pancreaticoduodenectomy. The importance of obtaining critical laboratory samples is highlighted and appropriate radiologic, medical, and pathologic testing is discussed...
May 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28560845/spinocerebellar-ataxia-type-10-common-haplotype-and-disease-progression-rate-in-peru-and-brazil
#19
T C Gheno, G V Furtado, J A M Saute, K C Donis, A M V Fontanari, V E Emmel, J L Pedroso, O Barsottini, C Godeiro-Junior, H van der Linden, E Ternes Pereira, V P Cintra, W Marques, R M de Castilhos, I Alonso, J Sequeiros, M Cornejo-Olivas, P Mazzetti, V B Leotti, L B Jardim, M L Saraiva-Pereira
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic haplotypes of patients with spinocerebellar ataxia type 10 from Brazil and Peru. METHODS: Expanded alleles were detected by repeat-primed polymerase chain reaction. Disease progression was measured by the Scale for the Assessment and Rating of Ataxia, and the Neurological Examination Score for Spinocerebellar Ataxias when possible...
May 31, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#20
Divyanshu Dubey, Jaysingh Singh, Jeffrey W Britton, Sean J Pittock, Eoin P Flanagan, Vanda A Lennon, Jan-Mendelt Tillema, Elaine Wirrell, Cheolsu Shin, Elson So, Gregory D Cascino, Dean M Wingerchuk, Matthew T Hoerth, Jerry J Shih, Katherine C Nickels, Andrew McKeon
OBJECTIVE: To validate predictive models for neural antibody positivity and immunotherapy response in epilepsy. METHODS: We conducted a retrospective study of epilepsy cases at Mayo Clinic (Rochester-MN; Scottsdale-AZ, and Jacksonville-FL) in whom autoimmune encephalopathy/epilepsy/dementia autoantibody testing profiles were requested (06/30/2014-06/30/2016). An Antibody Prevalence in Epilepsy (APE) score, based on clinical characteristics, was assigned to each patient...
July 2017: Epilepsia
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