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epilepsy review

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https://www.readbyqxmd.com/read/28334543/-functional-impact-of-herg-from-physiological-role-to-target-of-anticancer-therapy
#1
Júlia Šatková, Markéta Bébarová
The human ether-à-go-go related gene (hERG; officially designated as KCNH2) encodes the structure of protein forming α-subunit of voltage-gated ion channel which conducts the rapid component of delayed rectifier K+ current (IKr). This current plays an important role namely in the cardiac repolarization. Mutations in hERG result in inherited arrhythmogenic syndromes characterized by a lenghtening or shortening of QT interval on the electrocardiogram and by an increased occurrence of life-threatening arrhythmias...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28331471/manipulating-micrornas-in-murine-models-targeting-the-multi-targeting-in-epilepsy
#2
David C Henshall
MicroRNAs are small noncoding RNAs that work posttranscriptionally to negatively regulate protein levels. They influence neuronal and glial structure and function, neuroinflammatory signaling, cell death, neurogenesis, and other processes relevant to epileptogenesis. Functional studies using oligonucleotide inhibitors (antagomirs) and mimics (agomirs) to modulate microRNAs in rat and mouse models of epilepsy show effects on evoked and spontaneous seizures and attendant neuropathology. The present review summarizes recent findings and points to gaps in our knowledge of the underlying mechanisms and directions for the future...
January 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28331464/when-should-genetic-testing-be-performed-in-epilepsy-patients
#3
Annapurna Poduri
This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.
January 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#4
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28329897/maternal-labor-delivery-and-perinatal-outcomes-associated-with-placental-abruption-a-systematic-review
#5
Katheryne L Downes, Katherine L Grantz, Edmond D Shenassa
Objective Risk factors for placental abruption have changed, but there has not been an updated systematic review investigating outcomes. Methods We searched PubMed, EMBASE, Web of Science, SCOPUS, and CINAHL for publications from January 1, 2005 through December 31, 2016. We reviewed English-language publications reporting estimated incidence and/or risk factors for maternal, labor, delivery, and perinatal outcomes associated with abruption. We excluded case studies, conference abstracts, and studies that lacked a referent/comparison group or did not clearly characterize placental abruption...
March 22, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#6
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28324680/somatic-complications-of-epilepsy-surgery-over-25-years-at-a-single-center
#7
Inuka K Gooneratne, Shahidul Mannan, Jane de Tisi, Juan C Gonzalez, Andrew W McEvoy, Anna Miserocchi, Beate Diehl, Tim Wehner, Gail S Bell, Josemir W Sander, John S Duncan
INTRODUCTION: Epilepsy surgery is an effective treatment for refractory focal epilepsy. Risks of surgery need to be considered when advising individuals of treatment options. We describe the frequency and nature of physical adverse events associated with epilepsy surgery in a single center. MATERIAL AND METHODS: We reviewed the prospectively maintained records of adults who underwent epilepsy surgery at our center between 1990 and 2014 to identify peri/postsurgical adverse events...
March 1, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28324301/neuroimaging-in-epilepsy
#8
REVIEW
Erik H Middlebrooks, Lawrence Ver Hoef, Jerzy P Szaflarski
In recent years, the field of neuroimaging has undergone dramatic development. Specifically, of importance for clinicians and researchers managing patients with epilepsies, new methods of brain imaging in search of the seizure-producing abnormalities have been implemented, and older methods have undergone additional refinement. Methodology to predict seizure freedom and cognitive outcome has also rapidly progressed. In general, the image data processing methods are very different and more complicated than even a decade ago...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28322853/the-role-of-histopathologic-subtype-in-the-setting-of-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#9
Jordan M Gales, Lara Jehi, Amy Nowacki, Richard A Prayson
Hippocampal sclerosis (HS) and focal cortical dysplasia (FCD) are among the most common neuropathological findings in those undergoing surgery for refractory mesial temporal lobe epilepsy (MTLE). Existing data regarding differences among the most recent International League Against Epilepsy (ILAE) HS subtypes remains limited. This study sought to characterize the roles of HS subtype and coexistent FCD. Epilepsy surgery pathologic specimens in 307 cases of temporal lobe epilepsy with HS were reviewed (mean age ± SD, 37 ± 15 years, 56% women)...
March 17, 2017: Human Pathology
https://www.readbyqxmd.com/read/28321691/patient-specific-resection-strategy-of-glioblastoma-multiforme-choice-based-on-a-preoperative-scoring-scale
#10
Haihui Jiang, Yong Cui, Xiang Liu, Xiaohui Ren, Song Lin
BACKGROUND: The real association between extent of resection and outcome in patients with glioblastoma multiforme (GBM) remains unclear. OBJECTIVE: The goal of this study was to disclose the effect of gross total resection on survival and establish a scale used for surgical decision making. METHODS: A retrospective review was undertaken of 416 patients who received operation for GBM from 2008 to 2015 in Beijing Tiantan Hospital. To reduce bias in patient selection, propensity score analysis was conducted and 99 pairs of matched GBMs were generated...
March 20, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28320349/mindfulness-based-interventions-in-epilepsy-a-systematic-review
#11
Karen Wood, Maggie Lawrence, Bhautesh Jani, Robert Simpson, Stewart W Mercer
BACKGROUND: Mindfulness based interventions (MBIs) are increasingly used to help patients cope with physical and mental long-term conditions (LTCs). Epilepsy is associated with a range of mental and physical comorbidities that have a detrimental effect on quality of life (QOL), but it is not clear whether MBIs can help. We systematically reviewed the literature to determine the effectiveness of MBIs in people with epilepsy. METHODS: Medline, Cochrane Central Register of Controlled Trials, EMBASE, CINAHL, Allied and Complimentary Medicine Database, and PsychInfo were searched in March 2016...
March 20, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28320280/molecular-mechanisms-mediating-involvement-of-glial-cells-in-brain-plastic-remodeling-in-epilepsy
#12
REVIEW
L G Khaspekov, L E Frumkina
In this review we summarize published data on the involvement of glial cells in molecular mechanisms underlying brain plastic reorganization in epilepsy. The role of astrocytes as glial elements in pathological plasticity in epilepsy is discussed. Data on the involvement of aquaporin-4 in epileptogenic plastic changes and on participation of microglia and extracellular matrix in dysregulation of synaptic transmission and plastic remodeling in epileptic brain tissue are reviewed.
March 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28318193/-neuropsychiatric-phenotype-of-angelman-syndrome-and-clinical-care-report-of-seven-cases
#13
Juan E Cote-Orozco, Paola Del Rocío Mera-Solarte, Eugenia Espinosa-García
Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28316319/epileptic-spasms-in-paediatric-post-traumatic-epilepsy-at-a-tertiary-referral-centre
#14
Jun T Park, Harry T Chugani
To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non-accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post-traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology...
March 17, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28315806/paroxysmal-nonepileptic-events-in-children-with-epilepsy
#15
Yuji Ito, Hiroyuki Kidokoro, Tamiko Negoro, Masaharu Tanaka, Yu Okai, Yoko Sakaguchi, Chikako Ogawa, Tomoya Takeuchi, Atsuko Ohno, Hiroyuki Yamamoto, Tomohiko Nakata, Satoshi Maesawa, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume
OBJECTIVE: The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. METHODS: The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs...
February 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28315370/control-of-mitochondrial-physiology-and-cell-death-by-the-bcl-2-family-proteins-bax-and-bok
#16
Beatrice D'Orsi, Julia Mateyka, Jochen H M Prehn
Neuronal cell death is often triggered by events that involve intracellular increases in Ca(2+). Under resting conditions, the intracellular Ca(2+) concentration is tightly controlled by a number of extrusion and sequestering mechanisms involving the plasma membrane, mitochondria, and ER. These mechanisms act to prevent a disruption of neuronal ion homeostasis. As these processes require ATP, excessive Ca(2+) overloading may cause energy depletion, mitochondrial dysfunction, and may eventually lead to Ca(2+)-dependent cell death...
March 14, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28314978/can-developmental-venous-anomalies-cause-seizures
#17
Claire Dussaule, Pascal Masnou, Ghaïdaa Nasser, Frédérique Archambaud, Cécile Cauquil-Michon, Jean-Paul Gagnepain, Viviane Bouilleret, Christian Denier
Developmental venous anomalies (DVAs) are congenital anatomical variants of normal venous drainage of normal brain. Although DVAs are often discovered on the occasion of a seizure, their involvement in epilepsy is poorly studied. Our objective was to determine whether DVA can cause seizures, in the cases where there is no associated lesion, including no cavernoma or dysplasia. Based on clinical history, cerebral MRI, EEG recording, and (18)F-FDG PET, we report 4 patients with DVA revealed by seizures. The first patient had a convulsive seizure caused by a hemorrhagic infarction due to thrombosis of her DVA...
March 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28303525/failed-epilepsy-surgery-is-this-the-end
#18
REVIEW
Riëm El Tahry, Irene Zhong Wang
Resective epilepsy surgery can lead to sustained seizure control in 70-80% of patients evaluated for epilepsy surgery, indicating that up to 30% of patients still have recurrent seizures after surgery. Definitions of failed epilepsy surgery vary amongst studies. This review focuses on seizure outcome predictors after reoperation, possible mechanisms of failure and best management for this difficult patient population.
March 16, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28298036/efficacy-and-safety-of-corpus-callosotomy-after-vagal-nerve-stimulation-in-patients-with-drug-resistant-epilepsy
#19
Jennifer Hong, Atman Desai, Vijay M Thadani, David W Roberts
OBJECTIVE Vagal nerve stimulation (VNS) and corpus callosotomy (CC) have both been shown to be of benefit in the treatment of medically refractory epilepsy. Recent case series have reviewed the efficacy of VNS in patients who have undergone CC, with encouraging results. There are few data, however, on the use of CC following VNS therapy. METHODS The records of all patients at the authors' center who underwent CC following VNS between 1998 and 2015 were reviewed. Patient baseline characteristics, operative details, and postoperative outcomes were analyzed...
March 3, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28295038/gonadal-mosaicism-of-a-novel-iqsec2-variant-causing-female-limited-intellectual-disability-and-epilepsy
#20
Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli, Cheryl Shoubridge
We report a family with four girls with moderate to severe intellectual disability and epilepsy. Two girls showed regression in adolescence and died of presumed sudden unexpected death in epilepsy at 16 and 22 years. Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). The IQSEC2 variant was identified in both surviving affected sisters but in neither parent...
March 15, 2017: European Journal of Human Genetics: EJHG
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