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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
#1
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...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28324301/neuroimaging-in-epilepsy
#2
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
#3
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
https://www.readbyqxmd.com/read/28285213/remote-modulation-of-network-excitability-during-deep-brain-stimulation-for-epilepsy
#4
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...
March 4, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28281500/recent-advances-in-epilepsy-research-in-india
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28235667/automated-detection-of-high-frequency-oscillations-in-electrophysiological-signals-methodological-advances
#8
Miguel Navarrete, Jan Pyrzowski, Juliana Corlier, Mario Valderrama, Michel Le Van Quyen
In recent years, new recording technologies have advanced such that oscillations of neuronal networks can be identified from simultaneous, multisite recordings at high temporal and spatial resolutions. However, because of the deluge of multichannel data generated by these experiments, achieving the full potential of parallel neuronal recordings also depends on the development of new mathematical methods capable of extracting meaningful information related to time, frequency and space. In this review, we aim to bridge this gap by focusing on the new analysis tools developed for the automated detection of high-frequency oscillations (HFOs, > 40 Hz) in local field potentials...
February 21, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28215372/the-managing-epilepsy-well-network-advancing-epilepsy-self-management
#9
EDITORIAL
Martha Sajatovic, Barbara C Jobst, Ross Shegog, Yvan A Bamps, Charles E Begley, Robert T Fraser, Erica K Johnson, Dilip K Pandey, Rakale C Quarells, Peter Scal, Tanya M Spruill, Nancy J Thompson, Rosemarie Kobau
Epilepsy, a complex spectrum of disorders, affects about 2.9 million people in the U.S. Similar to other chronic disorders, people with epilepsy face challenges related to management of the disorder, its treatment, co-occurring depression, disability, social disadvantages, and stigma. Two national conferences on public health and epilepsy (1997, 2003) and a 2012 IOM report on the public health dimensions of epilepsy highlighted important knowledge gaps and emphasized the need for evidence-based, scalable epilepsy self-management programs...
March 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28212175/advances-in-epilepsy-gene-discovery-and-implications-for-epilepsy-diagnosis-and-treatment
#10
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...
April 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28179120/novel-therapeutic-approaches-for-disease-modification-of-epileptogenesis-for-curing-epilepsy
#11
REVIEW
Bryan L Clossen, Doodipala Samba Reddy
This article describes the recent advances in epileptogenesis and novel therapeutic approaches for the prevention of epilepsy, with a special emphasis on the pharmacological basis of disease-modification of epileptogenesis for curing epilepsy. Here we assess animal studies and human clinical trials of epilepsy spanning 1982-2016. Epilepsy arises from a number of neuronal factors that trigger epileptogenesis, which is the process by which a brain shifts from a normal physiologic state to an epileptic condition...
February 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28153412/tipping-the-scales-lessons-from-simple-model-systems-on-inositol-imbalance-in-neurological-disorders
#12
REVIEW
Anna D Frej, Grant P Otto, Robin S B Williams
Inositol and inositol-containing compounds have signalling and regulatory roles in many cellular processes, suggesting that inositol imbalance may lead to wide-ranging changes in cellular functions. Indeed, changes in inositol-dependent signalling have been implicated in various diseases and cellular functions such as autophagy, and these changes have often been proposed as therapeutic targets. However, few studies have highlighted the links between inositol depletion and the downstream effects on inositol phosphates and phosphoinositides in disease states...
January 25, 2017: European Journal of Cell Biology
https://www.readbyqxmd.com/read/28145425/loss-of-function-of-kcnc1-is-associated-with-intellectual-disability-without-seizures
#13
Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy...
February 1, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28120042/recent-advances-in-epilepsy
#14
Mark Manford
This paper reviews advances in epilepsy in recent years with an emphasis on therapeutics and underlying mechanisms, including status epilepticus, drug and surgical treatments. Lessons from rarer epilepsies regarding the relationship between epilepsy type, mechanisms and choice of antiepileptic drugs (AED) are explored and data regarding AED use in pregnancy are reviewed. Concepts evolving towards a move from treating seizures to treating epilepsy are discussed, both in terms of the mechanisms of epileptogenesis, and in terms of epilepsy's broader comorbidity, especially depression...
January 24, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28110204/new-classification-of-epilepsy-related-neoplasms-the-clinical-perspective
#15
REVIEW
Burkhard S Kasper, Ekkehard M Kasper
Neoplastic CNS lesions are a common cause of focal epilepsy refractory to anticonvulsant treatment, i.e. long-term epilepsy-associated tumors (LEATs). Epileptogenic tumors encompass a variety of intriguing lesions, e.g. dysembryoplastic neuroepithelial tumors or gangliogliomas, which differ from more common CNS neoplasms in their clinical context as well as on histopathology. Long-term epilepsy-associated tumor classification is a rapidly evolving issue in surgical neuropathology, with new entities still being elucidated...
February 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28104433/micrornas-in-the-pathophysiology-of-epilepsy
#16
REVIEW
Gary P Brennan, David C Henshall
Temporal lobe epilepsy is a common and often drug-resistant seizure disorder. The underlying pathological processes which give rise to the development of spontaneous seizures include neuroinflammation, cell loss, neurogenesis and dendritic abnormalities and many of these are driven by insult-induced changes in gene expression and gene expression regulation. MicroRNAs are powerful modulators of post-transcriptional gene expression which are dysregulated during epileptogenesis. The advent of locked nucleic acid (LNA) based inhibitory methods and mimic technology has facilitated in vivo functional assessment of these molecules in epilepsy...
January 16, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28088732/apelin-13-protects-rat-primary-cortical-glia-neuron-co-culture-against-pentylenetetrazole-induced-toxicity
#17
Taj Pari Kalantaripour, Saeed Esmaeili-Mahani, Vahid Sheibani, Hamid Najafipour, Majid Asadi-Shekaari M
In spite of recent advances in the treatment of epilepsy, up to 35% of people living with the condition do not respond to accessible anti-epileptic drugs (AEDs) and continue to experience regular, devastating and potentially life-threatening seizures. Neuronal death is a significant feature of epilepsy in humans and experimental models. It has been reported that apelin, an endogenous ligand for the angiotensin-1-like receptor (APJ), has anticonvulsive as well as protective effects in some neurodegenerative situations...
March 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28056630/a-model-program-for-translational-medicine-in-epilepsy-genetics
#18
Lacey A Smith, Jeremy F P Ullmann, Heather E Olson, Christelle M El Achkar, Gessica Truglio, McKenna Kelly, Beth Rosen-Sheidley, Annapurna Poduri
Recent technological advances in gene sequencing have led to a rapid increase in gene discovery in epilepsy. However, the ability to assess pathogenicity of variants, provide functional analysis, and develop targeted therapies has not kept pace with rapid advances in sequencing technology. Thus, although clinical genetic testing may lead to a specific molecular diagnosis for some patients, test results often lead to more questions than answers. As the field begins to focus on therapeutic applications of genetic diagnoses using precision medicine, developing processes that offer more than equivocal test results is essential...
March 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28051072/novel-homozygous-missense-variant-of-grin1-in-two-sibs-with-intellectual-disability-and-autistic-features-without-epilepsy
#19
Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca
We report on two consanguineous sibs affected with severe intellectual disability and autistic features due to a homozygous missense variant of GRIN1. Massive parallel sequencing was performed using a gene panel including 450 genes related to intellectual disability and autism spectrum disorders. We found a homozygous missense variation of GRIN1 (c.679G>C; p.(Asp227His)) in the two affected sibs, which was inherited from both unaffected heterozygous parents. Heterozygous variants of GRIN1, encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy, severe intellectual disability, and movement disorders...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#20
Jae So Cho, Seung Hyo Kim, Ha Young Kim, Taesu Chung, Dongsup Kim, Sesong Jang, Seung Bok Lee, Seung Keun Yoo, Jongyeon Shin, Jong-Il Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Byung Chan Lim
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype...
December 2, 2016: Epilepsy Research
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