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https://www.readbyqxmd.com/read/28725554/successful-surgical-management-of-new-onset-refractory-status-epilepticus-norse-presenting-with-gelastic-seizures-in-a-3%C3%A2-year-old-girl
#1
Ahmad Marashly, Sean Lew, Jennifer Koop
Gelastic seizures (GS) are typically associated with hypothalamic hamartomas and present during childhood. However it is now known that GS can be found in focal epilepsies arising from other regions in the brain, including mesial and neocortical frontal, temporal and parietal regions. GS have rarely been described as the presenting manifestation of New Onset Refractory Status Epilepticus (NORSE). In this article we describe a previously healthy 3-year-old who presented with an explosive onset of GS that were refractory to multiple anti-seizure medications...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#2
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28675559/neuroinflammation-in-epileptogenesis-insights-and-translational-perspectives-from-new-models-of-epilepsy
#3
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
#4
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
#5
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/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/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#7
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/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
#8
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/28608234/genomics-guided-precise-anti-epileptic-drug-development
#9
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...
July 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28599256/cirrhosis-patients-stroke-risks-and-adverse-outcomes-two-nationwide-studies
#10
Hsin-Yun Wu, Chao-Shun Lin, Chun-Chieh Yeh, Chaur-Jong Hu, Chun-Chuan Shih, Yih-Giun Cherng, Ta-Liang Chen, Chien-Chang Liao
BACKGROUND & AIMS: The association between liver cirrhosis (LC) and stroke is not completely understood. Our purpose was to evaluate stroke risk and post-stroke outcomes in patients with LC. METHODS: We identified 6944 adults aged 20 years and older, newly diagnosed with LC, using the Taiwan's National Health Insurance Research Database from 2000 to 2005. The comparison cohort consisted of 27,776 adults without LC, randomly selected by frequency matching in age and sex...
May 25, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28596596/optical-mapping-of-neuronal-activity-during-seizures-in-zebrafish
#11
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/28577562/current-role-of-perampanel-in-pediatric-epilepsy
#12
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
#13
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/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#14
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/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#15
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
https://www.readbyqxmd.com/read/28551500/psychiatric-side-effects-and-antiepileptic-drugs-observations-from-prospective-audits
#16
Linda J Stephen, Abbie Wishart, Martin J Brodie
Psychiatric comorbidities are common in people with epilepsy. A retrospective study of characteristics associated with withdrawal due to psychiatric side effects was undertaken in patients with treated epilepsy participating in prospective audits with new antiepileptic drugs (AEDs). A total of 1058 treated patients with uncontrolled seizures (942 focal-onset seizures, 116 generalized genetic epilepsies [GGEs]) participated in eight prospective, observational audits from 1996 to 2014. These patients were prescribed adjunctive topiramate (n=170), levetiracetam (n=220), pregabalin (n=135), zonisamide (n=203), lacosamide (n=160), eslicarbazepine acetate (n=52), retigabine (n=64), or perampanel (n=54)...
June 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28549652/the-fault-in-their-stars-accumulating-astrocytic-inclusions-associated-with-clusters-of-epileptic-spasms-in-children-with-global-developmental-delay
#17
Robyn Whitney, Sameer AlMehmadi, Bláthnaid McCoy, Ivanna Yau, Ayako Ochi, Hiroshi Otsubo, Shelly K Weiss, James Rutka, Lili-Naz Hazrati, O Carter Snead, Cristina Go
BACKGROUND: The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay. METHODS: We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28532713/electroencephalography-after-a-single-unprovoked-seizure
#18
REVIEW
Derek B Debicki
Electroencephalography (EEG) is an essential diagnostic tool in the evaluation of seizure disorders. In particular, EEG is used as an additional investigation for a single unprovoked seizure. Epileptiform abnormalities are related to seizure disorders and have been shown to predict recurrent unprovoked seizures (i.e., a clinical definition of epilepsy). Thus, the identification of epileptiform abnormalities after a single unprovoked seizure can inform treatment options. The current review addresses the relationship between EEG abnormalities and seizure recurrence...
July 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28532711/psychiatric-comorbidities-in-new-onset-epilepsy-should-they-be-always-investigated
#19
REVIEW
Andres M Kanner
The new definition of epilepsy establishes that epilepsy is not only a disorder presenting with epileptic seizures but it can be often associated with cognitive and psychiatric comorbidities. In fact, the prevalence of psychiatric comorbidities is relatively high in patients with epilepsy (PWE), as one in three patients will have experienced a psychiatric disorder in the course of their life, with mood and anxiety disorders being the most frequent. Psychiatric comorbidities often precede the onset of the seizure disorder, and affect the life of these patients and the course of the seizure disorder at several levels, including a worse tolerance of pharmacotherapy with antiepileptic drugs (AEDs), in particular the development of iatrogenic psychiatric symptoms from pharmacologic and surgical treatments, an increased mortality risk, a worse quality of life and higher economic burdens of the patient, family and society as a hole...
July 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28510905/zoomed-mri-guided-by-combined-eeg-meg-source-analysis-a-multimodal-approach-for-optimizing-presurgical-epilepsy-work-up-and-its-application-in-a-multi-focal-epilepsy-patient-case-study
#20
Ü Aydin, S Rampp, A Wollbrink, H Kugel, J -H Cho, T R Knösche, C Grova, J Wellmer, C H Wolters
In recent years, the use of source analysis based on electroencephalography (EEG) and magnetoencephalography (MEG) has gained considerable attention in presurgical epilepsy diagnosis. However, in many cases the source analysis alone is not used to tailor surgery unless the findings are confirmed by lesions, such as, e.g., cortical malformations in MRI. For many patients, the histology of tissue resected from MRI negative epilepsy shows small lesions, which indicates the need for more sensitive MR sequences...
July 2017: Brain Topography
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