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epilepsy review

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https://www.readbyqxmd.com/read/28212175/advances-in-epilepsy-gene-discovery-and-implications-for-epilepsy-diagnosis-and-treatment
#1
Joseph D Symonds, Sameer M Zuberi, Michael R Johnson
PURPOSE OF REVIEW: Epilepsy genetics is shifting from the academic pursuit of gene discovery to a clinical discipline based on molecular diagnosis and stratified medicine. We consider the latest developments in epilepsy genetics and review how gene discovery in epilepsy is influencing the clinical classification of epilepsy and informing new therapeutic approaches and drug discovery. RECENT FINDINGS: Recent studies highlighting the importance of mutation in GABA receptors, NMDA receptors, potassium channels, G-protein coupled receptors, mammalian target of rapamycin pathway and chromatin remodeling are discussed...
February 15, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28211317/primary-human-cytomegalovirus-hcmv-infection-in-pregnancy
#2
Horst Buxmann, Klaus Hamprecht, Matthias Meyer-Wittkopf, Klaus Friese
BACKGROUND: In 0.5-4% of pregnancies, the prospective mother sustains a primary infection with human cytomegalovirus (HCMV). An HCMV infection of the fetus in the first or second trimester can cause complex post-encephalitic impairment of the infant brain, leading to motor and mental retardation, cerebral palsy, epilepsy, retinal defects, and progressive hearing loss. METHODS: This review is based on pertinent publications from January 2000 to October 2016 that were retrieved by a selective search in PubMed employing the terms "cytomegalovirus and pregnancy" and "congenital cytomegalovirus...
January 27, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28210205/the-atp-gated-p2x7-receptor-as-a-target-for-the-treatment-of-drug-resistant-epilepsy
#3
REVIEW
Edward Beamer, Wolfgang Fischer, Tobias Engel
Despite the progress made in the development of new antiepileptic drugs (AEDs), the biggest challenges that epilepsy presents to drug development have remained unchanged for the last 80 years: finding a treatment with potential for modifying disease progression and reducing the percentage of patients resistant to all pharmacological interventions. The mechanism of action of the majority of AEDs is based on blocking Na(+) and/or Ca(2+) channels, promotion of GABA or inhibition of glutamate signaling. In order for further progress to be made, however, a fuller picture of epilepsy will need to be considered, including changes to blood-brain barrier permeability, synaptic plasticity, network reorganization, and gliosis...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#4
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28207604/memory-rehabilitation-strategies-in-nonsurgical-temporal-lobe-epilepsy-a-review
#5
Alessandra Del Felice, Marzia Alderighi, Matteo Martinato, Davide Grisafi, Anna Bosco, Pamela J Thompson, Josemir W Sander, Stefano Masiero
People with temporal lobe epilepsy (TLE) who have not undergone epilepsy surgery often complain of memory deficits. Cognitive rehabilitation is employed as a remedial intervention in clinical settings, but research is limited and findings concerning efficacy and the criteria for choosing different approaches have been inconsistent. We aimed to appraise existing evidence on memory rehabilitation in nonsurgical individuals with temporal lobe epilepsy and to ascertain the effectiveness of specific strategies. A scoping review was preferred given the heterogeneous nature of the interventions...
February 15, 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28203254/malformations-of-cortical-development-genetic-mechanisms-and-diagnostic-approach
#6
REVIEW
Jeehun Lee
Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events...
January 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#7
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28202425/levetiracetam-induced-thrombocytopenia-in-a-patient-with-status-epilepticus
#8
Jonguk Kim, Jung-Won Shin
Levetiracetam has broad-spectrum activity in epilepsy. In contrast to phenytoin, levetiracetam has an ideal pharmacokinetic profile without any severe haemodynamic side effects and therefore intravenous loading of levetiracetam is commonly used in adult patients with status epilepticus, especially those who have medical problems. However, levetiracetam-induced serious adverse effects, such as thrombocytopenia and pancytopenia, have been reported in the literature. Here, we describe a case of status epilepticus after cardiac arrest treated with levetiracetam in which severe thrombocytopenia developed and was successfully managed by discontinuation of levetiracetam...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#9
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28202379/comprehensive-preoperative-work-up-and-surgical-treatment-of-low-grade-tumor-benign-lesion-related-temporal-lobe-epilepsy
#10
Rui Feng, Jie Hu, Jinsong Wu, Liqin Lang, Chengxin Ma, Shize Jiang, Bing Sun, Xin Gu, Li Pan
OBJECTIVE: Generally low-grade tumor/benign lesion related temporal lobe epilepsy (LGT/BL-TLE) is considered easier to treat and has better prognosis when compared to non-lesional TLE. However, multiple disputes exist in surgical management of this epilepsy entity. This study aims to discuss comprehensive preoperative work-up, surgical strategies and outcome of it. METHODS: A retrospective review of sixty LGT/BL-TLE cases which underwent comprehensive preoperative work-up and then resective surgeries was conducted...
February 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28202284/post-stroke-epilepsy
#11
REVIEW
Tomotaka Tanaka, Masafumi Ihara
Post-stroke epilepsy (PSE) is a common complication after stroke, yet treatment options remain limited. While many physicians prescribe antiepileptic drugs (AED) for secondary prevention of PSE, it is unclear which treatments are most effective in the prevention of recurrence of symptoms, or whether such therapy is needed for primary prevention. This review discusses the current understanding of epidemiology, diagnoses, mechanisms, risk factors, and treatments of PSE.
February 12, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28202262/cognitive-and-behavioral-effects-of-new-antiepileptic-drugs-in-pediatric-epilepsy
#12
REVIEW
Romina Moavero, Marta Elena Santarone, Cinzia Galasso, Paolo Curatolo
BACKGROUND: In pediatric epilepsy, neurodevelopmental comorbidities could be sometimes even more disabling than seizures themselves, therefore it is crucial for the clinicians to understand how to benefit these children, and to choose the proper antiepileptic drug for the treatment of epilepsy associated to a specific neurodevelopmental disorder. Aim of this paper is to discuss the potential impact on cognition and behavior of new and newest AEDs and to guide the choice of the clinicians for a targeted use in epilepsy associated with specific neurodevelopmental disorders...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28202008/relationship-between-abcb1-3435tt-genotype-and-antiepileptic-drugs-resistance-in-epilepsy-updated-systematic-review-and-meta-analysis
#13
Malek Chouchi, Wajih Kaabachi, Hedia Klaa, Kalthoum Tizaoui, Ilhem Ben-Youssef Turki, Lamia Hila
BACKGROUND: Antiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant. Genetic polymorphisms may be involved in the variation of AEDs response. Therefore, we conducted an updated systematic review and a meta-analysis to investigate the contribution of the genetic profile on epilepsy drug resistance. METHODS: We proceeded to the selection of eligible studies related to the associations of polymorphisms with resistance to AEDs therapy in epilepsy, published from January 1980 until November 2016, using Pubmed and Cochrane Library databases...
February 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28199007/accuracy-of-claims-based-algorithms-for-epilepsy-research-revealing-the-unseen-performance-of-claims-based-studies
#14
Lidia M V R Moura, Maggie Price, Andrew J Cole, Daniel B Hoch, John Hsu
OBJECTIVE: To evaluate published algorithms for the identification of epilepsy cases in medical claims data using a unique linked dataset with both clinical and claims data. METHODS: Using data from a large, regional health delivery system, we identified all patients contributing biologic samples to the health system's Biobank (n = 36K). We identified all subjects with at least one diagnosis potentially consistent with epilepsy, for example, epilepsy, convulsions, syncope, or collapse, between 2014 and 2015, or who were seen at the epilepsy clinic (n = 1,217), plus a random sample of subjects with neither claims nor clinic visits (n = 435); we then performed a medical chart review in a random subsample of 1,377 to assess the epilepsy diagnosis status...
February 15, 2017: Epilepsia
https://www.readbyqxmd.com/read/28197922/coordination-of-cellular-localization-dependent-effects-of-sumoylation-in-regulating-cardiovascular-and-neurological-diseases
#15
Jun-Ichi Abe, Uday G Sandhu, Nguyet Minh Hoang, Manoj Thangam, Raymundo A Quintana-Quezada, Keigi Fujiwara, Nhat Tu Le
Sumoylation, a reversible post-transcriptional modification process, of proteins are involved in cellular differentiation, growth, and even motility by regulating various protein functions. Sumoylation is not limited to cytosolic proteins as recent evidence shows that nuclear proteins, those associated with membranes, and mitochondrial proteins are also sumoylated. Moreover, it is now known that sumoylation plays an important role in the process of major human ailments such as malignant, cardiovascular and neurological diseases...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28195639/ethosuximide-sodium-valproate-or-lamotrigine-for-absence-seizures-in-children-and-adolescents
#16
REVIEW
Francesco Brigo, Stanley C Igwe
BACKGROUND: This is an updated version of the original Cochrane review originally published in 2003, Issue 3, and updated in 2005, Issue 4.Absence seizures are brief epileptic seizures which present in childhood and adolescence. Depending on clinical features and electroencephalogram (EEG) findings they are divided into typical, atypical absences, and absences with special features. Typical absences are characterised by sudden loss of awareness and an EEG typically shows generalised spike wave discharges at three cycles per second...
February 14, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28194133/current-and-emerging-potential-of-magnetoencephalography-in-the-detection-and-localization-of-high-frequency-oscillations-in-epilepsy
#17
REVIEW
Eleonora Tamilia, Joseph R Madsen, Patricia Ellen Grant, Phillip L Pearl, Christos Papadelis
Up to one-third of patients with epilepsy are medically intractable and need resective surgery. To be successful, epilepsy surgery requires a comprehensive preoperative evaluation to define the epileptogenic zone (EZ), the brain area that should be resected to achieve seizure freedom. Due to lack of tools and methods that measure the EZ directly, this area is defined indirectly based on concordant data from a multitude of presurgical non-invasive tests and intracranial recordings. However, the results of these tests are often insufficiently concordant or inconclusive...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28190753/evaluation-of-the-first-seizure-patient-key-points-in-the-history-and-physical-examination
#18
Tomasz A Nowacki, Jeffrey D Jirsch
PURPOSE: This review will present the history and physical examination as the launching point of the first seizure evaluation, from the initial characterization of the event, to the exclusion of alternative diagnoses, and then to the determination of specific acute or remote causes. Clinical features that may distinguish seizures from alternative diagnoses are discussed in detail, followed by a discussion of acute and remote first seizure etiologies. METHODS: This review article is based on a discretionary selection of English language articles retrieved by a literature search in the PubMed database, and the authors' clinical experience...
December 8, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28190698/therapeutic-effects-of-cannabinoids-in-animal-models-of-seizures-epilepsy-epileptogenesis-and-epilepsy-related-neuroprotection
#19
REVIEW
Evan C Rosenberg, Pabitra H Patra, Benjamin J Whalley
The isolation and identification of the discrete plant cannabinoids in marijuana revived interest in analyzing historical therapeutic claims made for cannabis in clinical case studies and anecdotes. In particular, sources as old as the 11th and 15th centuries claimed efficacy for crude marijuana extracts in the treatment of convulsive disorders, prompting a particularly active area of preclinical research into the therapeutic potential of plant cannabinoids in epilepsy. Since that time, a large body of literature has accumulated describing the effects of several of the >100 individual plant cannabinoids in preclinical models of seizures, epilepsy, epileptogenesis, and epilepsy-related neuroprotection...
February 9, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28188074/complications-during-ketogenic-diet-initiation-prevalence-treatment-and-influence-on-seizure-outcomes
#20
Abigail Lin, Zahava Turner, Sarah C Doerrer, Anthony Stanfield, Eric H Kossoff
BACKGROUND: Many centers still admit children for several days to start the ketogenic diet. The exact incidence of adverse effects during the admission and their potential later impact on seizure reduction has not been widely studied. METHODS: We performed a retrospective study of children with intractable epilepsy electively admitted for ketogenic diet initiation at our institution from 2011 to 2016. Charts were reviewed for adverse effects during the admission period and then examined for seizure reduction and compliance at three months...
January 16, 2017: Pediatric Neurology
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