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https://www.readbyqxmd.com/read/28637943/stereoelectroencephalography-indication-and-efficacy
#1
Koji Iida, Hiroshi Otsubo
Stereoelectroencephalography (SEEG) is a method for invasive study of patients with refractory epilepsy. Localization of the epileptogenic zone in SEEG relied on the hypothesis of anatomo-electro-clinical analysis limited by X-ray, analog electroencephalography (EEG), and seizure semiology in the 1950s. Modern neuroimaging studies and digital video-EEG have developed the hypothesis aiming at more precise localization of the epileptic network. Certain clinical scenarios favor SEEG over subdural EEG (SDEEG). SEEG can cover extensive areas of bilateral hemispheres with highly accurate sampling from sulcal areas and deep brain structures...
June 20, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28589521/strengthening-the-case-for-epilepsy-drug-development-bridging-experiences-from-the-alzheimer-s-disease-field-an-opinion
#2
Roy E Twyman
Given the sheer number of drugs (over 20!) available for treatment of seizures, epilepsy can be considered one of the most successful areas in pharmaceutical development and especially for neuroscience. However, despite the large number of drug treatment options available for managing patients with epilepsy, there remains considerable unmet need. For example, the overall impact on seizure control has not been substantial with approximately 30% of patients remaining refractory or their seizures not adequately controlled...
June 7, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28536506/axonal-membranes-and-their-domains-assembly-and-function-of-the-axon-initial-segment-and-node-of-ranvier
#3
REVIEW
Andrew D Nelson, Paul M Jenkins
Neurons are highly specialized cells of the nervous system that receive, process and transmit electrical signals critical for normal brain function. Here, we review the intricate organization of axonal membrane domains that facilitate rapid action potential conduction underlying communication between complex neuronal circuits. Two critical excitable domains of vertebrate axons are the axon initial segment (AIS) and the nodes of Ranvier, which are characterized by the high concentrations of voltage-gated ion channels, cell adhesion molecules and specialized cytoskeletal networks...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28524218/-autoimmune-pathology-in-neuropaediatrics-what-aspects-have-really-undergone-a-change
#4
V Cantarin-Extremera
Autoimmune neurological diseases are an important group of pathologies in neuropaediatrics. The central nervous system was considered to be an immunologically privileged organ, as it protects itself from the surroundings by means of the blood-brain barrier. In recent years, however, reports have been published of a growing number of disorders produced by antibodies that react against neuronal or glial proteins and give rise to a wide variety of clinical conditions (epilepsy, encephalopathy, movement disorders, etc...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521703/recent-advances-in-antiepileptic-herbal-medicine
#5
Stephen M Manchishi
Epilepsy is one of the most common neurological disorders worldwide, with about 80 percent of cases thought to be in developing nations where it is mostly linked to superstition. Most cases of epilepsy are idiopathic, though brain injury, brain tumor, severe systemic infection and genetic mutations have been implicated in some cases. Anti-epileptic drugs (AEDs) currently in existence are not sufficient to contain the disorder. This is not only because of their limited availability and cost, but also their adverse side effects...
May 18, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28506440/the-wistar-audiogenic-rat-war-strain-and-its-contributions-to-epileptology-and-related-comorbidities-history-and-perspectives
#6
Norberto Garcia-Cairasco, Eduardo H L Umeoka, José A Cortes de Oliveira
In the context of modeling epilepsy and neuropsychiatric comorbidities, we review the Wistar Audiogenic Rat (WAR), first introduced to the neuroscience international community more than 25years ago. The WAR strain is a genetically selected reflex model susceptible to audiogenic seizures (AS), acutely mimicking brainstem-dependent tonic-clonic seizures and chronically (by audiogenic kindling), temporal lobe epilepsy (TLE). Seminal neuroethological, electrophysiological, cellular, and molecular protocols support the WAR strain as a suitable and reliable animal model to study the complexity and emergent functions typical of epileptogenic networks...
May 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28501723/tangeretin-alters-neuronal-apoptosis-and-ameliorates-the-severity-of-seizures-in-experimental-epilepsy-induced-rats-by-modulating-apoptotic-protein-expressions-regulating-matrix-metalloproteinases-and-activating-the-pi3k-akt-cell-survival-pathway
#7
Xiao-Qian Guo, Yu-Ling Cao, Fang Hao, Zhong-Rui Yan, Mei-Ling Wang, Xue-Wu Liu
PURPOSE: Epilepsy is complex neural disarray categorized by recurring seizures. Despite recent advances in pharmacotherapies for epilepsy, its treatment remains a challenge due to the contrary effects of the drugs. As a result, the identification of novel anti-epileptic drugs (AEDs) with neuroprotective properties and few side effects is of great value. Thus, the present study assessed the treatment effects of tangeretin using a rat model of pilocarpine-induced epilepsy. MATERIALS AND METHODS: Separate groups of male Wistar rats received oral administrations of tangeretin at 50, 100, or 200mg/kg for 10 days and then, on the 10th day, they received an intraperitoneal injection of pilocarpine (30mg/kg)...
May 11, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28499889/recent-advances-in-epilepsy-genetics
#8
REVIEW
Alessandro Orsini, Federico Zara, Pasquale Striano
In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients...
May 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28487114/structural-brain-network-analysis-of-children-with-localization-related-epilepsy
#9
Kanako Takeda, Hiroshi Matsuda, Yusaku Miyamoto, Hitoshi Yamamoto
INTRODUCTION: Epilepsy is considered to arise from dysfunction in neural networks. Recent advances in neuroimaging and its analysis have made it possible to investigate both functional and structural connectivity in the brain. The aim of this study was to elucidate alterations in the structural connectivity in children with localization-related epilepsy using the mathematical method of graph theoretical analysis. METHODOLOGY: Fifteen children with localization-related epilepsy (8 female subjects; mean age, 8...
May 6, 2017: Brain & Development
https://www.readbyqxmd.com/read/28469493/beyond-the-electrocardiogram-mutations-in-cardiac-ion-channel-genes-underlie-nonarrhythmic-phenotypes
#10
REVIEW
Thomas M Roston, Taylor Cunningham, Anna Lehman, Zachary W Laksman, Andrew D Krahn, Shubhayan Sanatani
Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome. Genes that encode ion channels have been implicated in all of these conditions, leading to the widespread implementation of genetic testing for suspected channelopathies. Over the past half-century, researchers have also identified systemic pathologies that extend beyond the arrhythmic phenotype in patients with ion channel gene mutations, including deafness, epilepsy, cardiomyopathy, periodic paralysis, and congenital heart disease...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28422131/variants-in-cplx1-in-two-families-with-autosomal-recessive-severe-infantile-myoclonic-epilepsy-and-id
#11
Silke Redler, Tim M Strom, Thomas Wieland, Kirsten Cremer, Hartmut Engels, Felix Distelmaier, Jörg Schaper, Alma Küchler, Johannes R Lemke, Stephanie Jeschke, Nicole Schreyer, Heinrich Sticht, Margarete Koch, Hermann-Josef Lüdecke, Dagmar Wieczorek
For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28398356/snp-based-hla-allele-tagging-imputation-and-association-with-antiepileptic-drug-induced-cutaneous-reactions-in-hong-kong-han-chinese
#12
H Gui, M Kwok, L Baum, P C Sham, P Kwan, S S Cherny
Human leukocyte antigen (HLA) genes control the regulation of the human immune system and are involved in immune-related diseases. Population surveys on relationships between single nucleotide polymorphisms (SNP) and HLA alleles are essential to conduct genetic association between HLA variants and diseases. Samples were obtained from our in-house database for epilepsy genetics and pharmacogenetics research. Using 184 epilepsy patients with both genome-wide SNP array and HLA-A/B candidate gene sequencing data, we sought tagging SNPs that completely represent sixHLA risk alleles; in addition, a Hong Kong population-specific reference panel was constructed for SNP-based HLA imputation...
April 11, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/28386314/recent-advances-and-challenges-of-mtor-inhibitors-use-in-the-treatment-of-patients-with-tuberous-sclerosis-complex
#13
REVIEW
Filipe Palavra, Conceição Robalo, Flávio Reis
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of benign, noninvasive, and tumor-like lesions called hamartomas that can affect multiple organ systems and are responsible for the clinical features of the disease. In the majority of cases, TSC results from mutations in the TSC1 and TSC2 genes, leading to the overactivation of the mammalian target of rapamycin (mTOR) signalling pathway, which controls several cell functions, including cell growth, proliferation, and survival...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28327575/analysis-of-exome-data-for-4293-trios-suggests-gpi-anchor-biogenesis-defects-are-a-rare-cause-of-developmental-disorders
#14
Alistair T Pagnamenta, Yoshiko Murakami, John M Taylor, Consuelo Anzilotti, Malcolm F Howard, Venessa Miller, Diana S Johnson, Shereen Tadros, Sahar Mansour, I Karen Temple, Rachel Firth, Elisabeth Rosser, Rachel E Harrison, Bronwen Kerr, Niko Popitsch, Taroh Kinoshita, Jenny C Taylor, Usha Kini
Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28324301/neuroimaging-in-epilepsy
#15
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/28295038/gonadal-mosaicism-of-a-novel-iqsec2-variant-causing-female-limited-intellectual-disability-and-epilepsy
#16
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...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28285213/remote-modulation-of-network-excitability-during-deep-brain-stimulation-for-epilepsy
#17
REVIEW
Dong-Hong Li, Xiao-Feng Yang
Deep brain stimulation (DBS) has become a well-accepted medical therapy in the treatment of movement disorders such as Parkinson's disease, and is currently under investigation as a treatment for other disorders, including epilepsy. Although DBS is widely used, its therapeutic mechanisms remain poorly understood. Recent research shows that seizures are network-level phenomena, but the incomplete knowledge of neural circuit function has left a gap in our understanding of how disruption at a molecular or cellular level generates epilepsy...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28281500/recent-advances-in-epilepsy-research-in-india
#18
Aparna B Dixit, Jyotirmoy Banerjee, P Sarat Chandra, Manjari Tripathi
There are more than 10 million persons with epilepsy (PWE) in India. Despite availability of antiepileptic drugs (AEDs), there is a large treatment gap varying from 50 to 70% among PWE. For treatable epilepsy, this gap can be attributed to poor education, poverty, cultural beliefs, stigma, and poor healthcare infrastructure; whereas for chronic epilepsy, this gap can be attributed to lack of proper diagnosis and treatment. To prevent, treat, and cure epilepsy, researchers worldwide have made exciting advances across all areas of epilepsy research...
2017: Neurology India
https://www.readbyqxmd.com/read/28281493/use-of-resting-state-fmri-in-planning-epilepsy-surgery
#19
REVIEW
Sharon Chiang, Zulfi Haneef, John M Stern, Jerome Engel
Epileptic seizures result from abnormal neuronal excitability and synchronization, affecting 0.5-1% of the population worldwide. Although anti-seizure drugs are often effective, a significant number of patients with epilepsy continue to experience refractory seizures and are candidates for surgical resection. Whereas standard presurgical evaluation has relied on intracranial electroencephalography (icEEG) and direct cortical stimulation to identify epileptogenic tissue and areas of cortex for which resection would produce clinical deficits, the invasive nature and limited spatial extent of icEEG has led to the investigation of less invasive imaging modalities as adjunctive tools in the presurgical workup...
2017: Neurology India
https://www.readbyqxmd.com/read/28266710/mri-negative-temporal-lobe-epilepsy-what-do-we-know
#20
REVIEW
Wolfgang Muhlhofer, Yee-Leng Tan, Susanne G Mueller, Robert Knowlton
Temporal lobe epilepsy (TLE) is the most common focal epilepsy in adults. TLE has a high chance of becoming medically refractory, and as such, is frequently considered for further evaluation and surgical intervention. Up to 30% of TLE cases, however, can have normal ("nonlesional" or negative) magnetic resonance imaging (MRI) results, which complicates the presurgical workup and has been associated with worse surgical outcomes. Helped by contributions from advanced imaging techniques and electrical source localization, the number of surgeries performed on MRI-negative TLE has increased over the last decade...
March 7, 2017: Epilepsia
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