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epilepsy review

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https://www.readbyqxmd.com/read/29786809/-diagnosing-epileptic-seizures-and-epilepsy
#1
Kristina Malmgren, Tommy Stödberg, Åsa Amandusson, Maria Strandberg
There are many episodic conditions which may be confused with epileptic seizures. The diagnosis of epileptic seizures is still dependent on a good history and witness report, as well as good knowledge of seizure semiology, and of the symptoms of a variety of differential diagnostic conditions. The principal differential diagnoses in adults and children are outlined in this review. The diagnostic problems do not exist only initially, so it is important to reconsider the diagnosis when deemed relevant. The possibility of home video recordings of recurring attacks may be helpful...
May 21, 2018: Läkartidningen
https://www.readbyqxmd.com/read/29785508/lacosamide-a-review-in-focal-onset-seizures-in-patients-with-epilepsy
#2
Sheridan M Hoy
Lacosamide (Vimpat® ) is a functionalized amino acid (available orally and intravenously) approved in the EU and the USA for use as monotherapy and adjunctive therapy for the treatment of focal-onset seizures in adults, adolescents and children aged ≥ 4 years with epilepsy. In adults and adolescents (aged ≥ 16 years), oral lacosamide as adjunctive therapy to other antiepileptic drugs was generally effective in reducing seizure frequency during short-term (up to 18 weeks) treatment, with efficacy sustained over the longer-term (up to 8 years)...
May 21, 2018: CNS Drugs
https://www.readbyqxmd.com/read/29784616/seizures-antiepileptic-drugs-and-ckd
#3
REVIEW
Victoria Títoff, Heather N Moury, Igor B Títoff, Kevin M Kelly
There are 2 major categories of patients with seizures and chronic kidney disease (CKD): patients who develop acute symptomatic seizures in the setting of CKD and patients with epilepsy who at some point develop CKD. The incidence of uremic seizures with kidney failure is ∼10%. These seizures are often nonconvulsive and may mimic uremic encephalopathy. Recognition and management of such situations may be challenging for treating physicians who are non-neurologists. Furthermore, practitioners caring for patients with seizures with or without an established diagnosis of epilepsy in the setting of CKD frequently encounter challenges in the selection, loading, titration, and maintenance of antiepileptic drugs (AEDs) due to potentially altered pharmacokinetics of the AEDs...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29783181/autistic-traits-in-epilepsy-models-why-when-and-how
#4
REVIEW
Jana Velíšková, Jill L Silverman, Melissa Benson, Pierre-Pascal Lenck-Santini
Autism spectrum disorder (ASD) is a common comorbidity of epilepsy and seizures and/or epileptiform activity are observed in a significant proportion of ASD patients. Current research also implies that autistic traits can be observed to a various degree in mice and rats with seizures. This suggests that there are shared mechanisms in both ASD and epilepsy syndromes. Here, we first review the standard, validated methods used to assess autistic traits in animal models as well as their limitations with regards to epilepsy models...
May 18, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29780332/myoclonic-jerks-and-schizophreniform-syndrome-case-report-and-literature-review
#5
Dominique Endres, Dirk-M Altenmüller, Bernd Feige, Simon J Maier, Kathrin Nickel, Sabine Hellwig, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P Doerr, Karl Egger, Ludger Tebartz van Elst
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#6
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#7
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777799/title-studies-on-drug-switchability-showed-heterogeneity-in-methodological-approaches-a-scoping-review
#8
REVIEW
Valeria Belleudi, Francesco Trotta, Simona Vecchi, Laura Amato, Antonio Addis, Marina Davoli
BACKGROUND: Several drugs share the same therapeutic indication, including those undergoing patent expiration. Concerns on the interchangeability are frequent in clinical practice, challenging the evaluation of switchability through observational research. AIM: To conduct a scoping review of observational studies on drug switchability to identify methodological strategies adopted to deal with bias and confounding. METHODS: We searched PubMed, EMBASE, and Web of Science (updated 1/31/2017) to identify studies evaluating switchability in terms of effectiveness/safety outcomes or compliance...
May 16, 2018: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/29774009/signaling-pathways-and-cellular-mechanisms-regulating-mossy-fiber-sprouting-in-the-development-of-epilepsy
#9
REVIEW
Christin M Godale, Steve C Danzer
The sprouting of hippocampal dentate granule cell axons, termed mossy fibers, into the dentate inner molecular layer is one of the most consistent findings in tissue from patients with mesial temporal lobe epilepsy. Decades of research in animal models have revealed that mossy fiber sprouting creates de novo recurrent excitatory connections in the hippocampus, fueling speculation that the pathology may drive temporal lobe epileptogenesis. Conducting definitive experiments to test this hypothesis, however, has been challenging due to the difficulty of dissociating this sprouting from the many other changes occurring during epileptogenesis...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29772390/pathobiology-of-christianson-syndrome-linking-disrupted-endosomal-lysosomal-function-with-intellectual-disability-and-sensory-impairments
#10
Mallory Kerner-Rossi, Maria Gulinello, Steven Walkley, Kostantin Dobrenis
Christianson syndrome (CS) is a recently described rare neurogenetic disorder presenting early in life with a broad range of neurological symptoms, including severe intellectual disability with nonverbal status, hyperactivity, epilepsy, and progressive ataxia due to cerebellar atrophy. CS is due to loss-of-function mutations in SLC9A6, encoding NHE6, a sodium-hydrogen exchanger involved in the regulation of early endosomal pH. Here we review what is currently known about the neuropathogenesis of CS, based on insights from experimental models, which to date have focused on mechanisms that affect the CNS, specifically the brain...
May 14, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29770251/review-of-the-neurological-benefits-of-phytocannabinoids
#11
REVIEW
Joseph Maroon, Jeff Bost
Background: Numerous physical, psychological, and emotional benefits have been attributed to marijuana since its first reported use in 2,600 BC in a Chinese pharmacopoeia. The phytocannabinoids, cannabidiol (CBD), and delta-9-tetrahydrocannabinol (Δ9-THC) are the most studied extracts from cannabis sativa subspecies hemp and marijuana. CBD and Δ9-THC interact uniquely with the endocannabinoid system (ECS). Through direct and indirect actions, intrinsic endocannabinoids and plant-based phytocannabinoids modulate and influence a variety of physiological systems influenced by the ECS...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29770117/clinical-application-of-epilepsy-genetics-in-africa-is-now-the-time
#12
Alina I Esterhuizen, Gemma L Carvill, Rajkumar S Ramesar, Symon M Kariuki, Charles R Newton, Annapurna Poduri, Jo M Wilmshurst
Over 80% of people with epilepsy live in low- to middle-income countries where epilepsy is often undiagnosed and untreated due to limited resources and poor infrastructure. In Africa, the burden of epilepsy is exacerbated by increased risk factors such as central nervous system infections, perinatal insults, and traumatic brain injury. Despite the high incidence of these etiologies, the cause of epilepsy in over 60% of African children is unknown, suggesting a possible genetic origin. Large-scale genetic and genomic research in Europe and North America has revealed new genes and variants underlying disease in a range of epilepsy phenotypes...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29769251/systematic-review-and-network-meta-analysis-of-resective-surgery-for-mesial-temporal-lobe-epilepsy
#13
Puneet Jain, George Tomlinson, Carter Snead, Beate Sander, Elysa Widjaja
OBJECTIVE: To evaluate the effectiveness of anterior temporal lobectomy (ATL) versus selective amygdalohippocampectomy (SAH) on seizure-free outcome in patients with temporal lobe epilepsy, using both direct and indirect evidence from the literature. METHODS: MEDLINE, Embase and Cochrane databases were searched for original research articles and systematic reviews comparing ATL versus SAH, and ATL or SAH versus medical management (MM). The outcome was seizure freedom at 12 months of follow-up or longer...
May 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29765859/mirna-mediated-regulation-of-adult-hippocampal-neurogenesis-implications-for-epilepsy
#14
REVIEW
Pascal Bielefeld, Catherine Mooney, David C Henshall, Carlos P Fitzsimons
Hippocampal neural stem/progenitor cells (NSPCs) proliferate and differentiate to generate new neurons across the life span of most mammals, including humans. This process takes place within a characteristic local microenvironment where NSPCs interact with a variety of other cell types and encounter systemic regulatory factors. Within this microenvironment, cell intrinsic gene expression programs are modulated by cell extrinsic signals through complex interactions, in many cases involving short non-coding RNA molecules, such as miRNAs...
November 9, 2017: Brain Plasticity
https://www.readbyqxmd.com/read/29764485/the-role-of-inflammation-in-the-development-of-epilepsy
#15
REVIEW
Amna Rana, Alberto E Musto
Epilepsy, a neurological disease characterized by recurrent seizures, is often associated with a history of previous lesions in the nervous system. Impaired regulation of the activation and resolution of inflammatory cells and molecules in the injured neuronal tissue is a critical factor to the development of epilepsy. However, it is still unclear as to how that unbalanced regulation of inflammation contributes to epilepsy. Therefore, one of the goals in epilepsy research is to identify and elucidate the interconnected inflammatory pathways in systemic and neurological disorders that may further develop epilepsy progression...
May 15, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#16
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29761351/economic-evaluation-of-stiripentol-for-dravet-syndrome-a-cost-utility-analysis
#17
Jesse Elliott, Bláthnaid McCoy, Tammy Clifford, George A Wells, Doug Coyle
BACKGROUND: Dravet syndrome is a catastrophic form of pediatric treatment-resistant epilepsy with few effective treatment options. Stiripentol is approved for use in Canada for treatment of Dravet syndrome, but the associated long-term costs and benefits have not been well-studied and its cost effectiveness is unclear. OBJECTIVE: The aim of this study was to evaluate the cost effectiveness of stiripentol as an adjunctive treatment to clobazam and valproate for treatment of Dravet syndrome from the perspective of the Canadian public healthcare payer...
May 15, 2018: PharmacoEconomics
https://www.readbyqxmd.com/read/29758257/a-mechanistic-review-on-gnao1-associated-movement-disorder
#18
REVIEW
Huijie Feng, Suad Khalil, Richard R Neubig, Christos Sidiropoulos
Mutations in the GNAO1 gene cause a complex constellation of neurological disorders including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gαo , the α subunit of Go , a member of the Gi/o family of heterotrimeric G protein signal transducers. Go is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment. GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements (NEDIM)...
May 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29756278/sleep-related-motor-and-behavioral-disorders-recent-advances-and-new-entities
#19
REVIEW
David P Breen, Birgit Högl, Alfonso Fasano, Claudia Trenkwalder, Anthony E Lang
Patients with sleep-related motor and behavioral disorders present to a variety of subspecialty clinics (neurology, sleep medicine, respiratory medicine, psychiatry). Diagnosing these disorders can be difficult, and sometimes they have a significant impact on quality of life. Alongside a number of common and well-recognized conditions, several new disease entities have been described in recent years that present with abnormal nocturnal motor phenomena (such as ADCY5-associated disease and anti-IgLON5 disease)...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29755403/has-the-time-come-to-stratify-and-score-sudep-risk-to-inform-people-with-epilepsy-of-their-changes-in-safety
#20
Rohit Shankar, Craig Newman, Alistair Gales, Brendan N McLean, Jane Hanna, Samantha Ashby, Matthew C Walker, Josemir W Sander
Recent publication of the American Academy of Neurology SUDEP guidance highlighted the importance to American clinicians of making people with epilepsy aware of SUDEP risk. It is the first guideline to do this in the United States. It follows precedent set out in the UK by National Institute of Clinical Excellence in 2004. While a significant achievement, the lack of clarity of how to deliver this guidance in an enduring and person-centered manner, raises concerns on how its long-term effectiveness in risk mitigation...
2018: Frontiers in Neurology
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