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recent advances in epilepsy

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https://www.readbyqxmd.com/read/28088732/apelin-13-protects-rat-primary-cortical-glia-neuron-co-culture-against-pentylenetetrazole-induced-toxicity
#1
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...
January 12, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28056630/a-model-program-for-translational-medicine-in-epilepsy-genetics
#2
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...
January 1, 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
#3
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...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#4
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
https://www.readbyqxmd.com/read/28042767/advantages-of-structure-based-drug-design-approaches-in-neurological-disorders
#5
Murali Aarthy, Umesh Panwar, Chandrabose Selvaraj, Sanjeev Kumar Singh
The nerve impulse that function during abnormal or due in illness may due to several genetic factors, metabolic, biological conditions or environmental components denominated as Neuro-biological disorders. This illness occurs mostly due to the innumerable biological modifications that alters the mechanistic condition of the brain. As per current update, more than a millions of people around the world are suffering through various kinds of neurological disorders. In case, 50 million people with Epilepsy, 35 million with dementia, mainly included Alzheimer's disease and the rest of other cases with Parkinson's, Migraine and Stroke...
2, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28035782/wonoep-appraisal-biomarkers-of-epilepsy-associated-comorbidities
#6
REVIEW
Teresa Ravizza, Filiz Y Onat, Amy R Brooks-Kayal, Antoine Depaulis, Aristea S Galanopoulou, Andrey Mazarati, Adam L Numis, Raman Sankar, Alon Friedman
Neurologic and psychiatric comorbidities are common in patients with epilepsy. Diagnostic, predictive, and pharmacodynamic biomarkers of such comorbidities do not exist. They may share pathogenetic mechanisms with epileptogenesis/ictogenesis, and as such are an unmet clinical need. The objectives of the subgroup on biomarkers of comorbidities at the XIII Workshop on the Neurobiology of Epilepsy (WONOEP) were to present the state-of-the-art recent research findings in the field that highlighting potential biomarkers for comorbidities in epilepsy...
December 30, 2016: Epilepsia
https://www.readbyqxmd.com/read/28017578/drug-development-for-refractory-epilepsy-the-past-25-years-and-beyond
#7
Ambica Golyala, Patrick Kwan
Despite the exponential growth of approved antiepileptic drugs (AEDs) over the past 25 years, epilepsy remains uncontrolled in approximately a third of patients. This article summarises the clinical trials and properties of the AEDs developed over this period, and reviews the pre-clinical and clinical development paradigms of modern AEDs. We discuss possible reasons for the apparent failure to develop more efficacious compounds. We also review the current regulatory frameworks for drug approval in the United States and Europe, and the changes on the horizon...
December 6, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28009725/cognitive-decline-and-dementia-in-down-syndrome
#8
Rosalyn Hithersay, Sarah Hamburg, Bernice Knight, André Strydom
PURPOSE OF REVIEW: Alzheimer's disease is most likely universal in older individuals with Down syndrome, due to having three copies of the amyloid precursor protein gene, resulting in amyloid-beta plaque deposition. Down syndrome is an important population in which to consider clinical trials of treatments to prevent or delay the development of dementia. However, assessment of subtler cognitive changes is challenging due to the presence of intellectual disability. RECENT FINDINGS: Recent research confirmed that older adults with Down syndrome often present with cognitive decline: more than 80% may experience dementia by age 65 years...
December 21, 2016: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28000699/absence-of-hikeshi-a-nuclear-transporter-for-heat-shock-protein-hsp70-causes-infantile-hypomyelinating-leukoencephalopathy
#9
Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen, Christopher J Carroll
Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified a novel homozygous disease-causing variant in HIKESHI, c.11G>C, p.(Cys4Ser), leading to hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. A founder Ashkenazi-Jewish disease-causing variant recently linked Hikeshi and its heat-shock protective function to leukoencephalopathy. In our patient, clinical features of lower limb spasticity, optic atrophy, nystagmus, and severe developmental delay were similar to reported patients...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27998063/challenges-of-finding-novel-drugs-targeting-the-k-cl-cotransporter
#10
Eric Delpire, C David Weaver
Human disease-causing mutations and genetically modified mouse models have established the importance of KCC2 and KCC3 in nervous system physiology. These two proteins mediate the electroneutral cotransport of K(+) and Cl(-) ions across the neuronal membrane. Disruption of KCC2 function affects inhibitory synaptic transmission with consequences for epilepsy, pain perception, and potentially some neuropsychiatric disorders, whereas disruption of KCC3 affects both central and peripheral nervous systems, resulting in psychosis and peripheral neuropathy...
December 21, 2016: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/27932948/rna-editing-systemic-relevance-and-clue-to-disease-mechanisms
#11
REVIEW
Jochen C Meier, Svenja Kankowski, Heinz Krestel, Florian Hetsch
Recent advances in sequencing technologies led to the identification of a plethora of different genes and several hundreds of amino acid recoding edited positions. Changes in editing rates of some of these positions were associated with diseases such as atherosclerosis, myopathy, epilepsy, major depression disorder, schizophrenia and other mental disorders as well as cancer and brain tumors. This review article summarizes our current knowledge on that front and presents glycine receptor C-to-U RNA editing as a first example of disease-associated increased RNA editing that includes assessment of disease mechanisms of the corresponding gene product in an animal model...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27932945/monoaminergic-and-histaminergic-strategies-and-treatments-in-brain-diseases
#12
REVIEW
Giuseppe Di Giovanni, Dubravka Svob Strac, Montse Sole, Mercedes Unzeta, Keith F Tipton, Dorotea Mück-Šeler, Irene Bolea, Laura Della Corte, Matea Nikolac Perkovic, Nela Pivac, Ilse J Smolders, Anna Stasiak, Wieslawa A Fogel, Philippe De Deurwaerdère
The monoaminergic systems are the target of several drugs for the treatment of mood, motor and cognitive disorders as well as neurological conditions. In most cases, advances have occurred through serendipity, except for Parkinson's disease where the pathophysiology led almost immediately to the introduction of dopamine restoring agents. Extensive neuropharmacological studies first showed that the primary target of antipsychotics, antidepressants, and anxiolytic drugs were specific components of the monoaminergic systems...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27905093/magnetic-resonance-imaging-guided-laser-interstitial-thermal-therapy-for-treatment-of-drug-resistant-epilepsy
#13
Joon Y Kang, Michael R Sperling
Surgery is the most effective treatment for drug-resistant epilepsy. Long-term studies demonstrate that about 60% to 80% of patients become seizure-free after anterior temporal lobectomy and a majority of patients (about 95%) report significant seizure reduction after surgery. In the last few years, there has been significant advances in minimally invasive surgical techniques to treat drug-resistant epilepsy. These minimally invasive procedures have significant advantages over open surgery in that they produce less immediate discomfort and disability, while allowing for greater preservation of functional tissue...
November 30, 2016: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27789166/how-neuropsychology-can-improve-the-care-of-individual-patients-with-epilepsy-looking-back-and-into-the-future
#14
REVIEW
Christoph Helmstaedter, Juri-Alexander Witt
Some of the roots of current clinical neuropsychology go back to the early days of epilepsy surgery. Looking back a huge number of publications have dealt with cognition in epilepsy. The major factors driving this work were questions relating to surgery, antiepileptic drugs and, more recently, also to underlying pathology. However, most factors affecting cognition in epilepsy have been discerned many years ago. The body of neuropsychological literature in this field has accumulated much knowledge, raising the question why, apart from epilepsy surgery settings, neuropsychology has still not been fully integrated in the routine care of patients with epilepsy...
October 13, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27781560/precision-medicine-in-genetic-epilepsies-break-of-dawn
#15
Philipp Sebastian Reif, Meng-Han Tsai, Ingo Helbig, Felix Rosenow, Karl Martin Klein
Therapy with current antiepileptic drugs aims at reducing the likelihood of seizure occurrence rather than influencing the underlying disease process. Therefore, antiepileptic drugs have an anticonvulsant rather than antiepileptic property. Areas covered: The increasing identification of genetic causes for epilepsy over the recent years improves the understanding of the underlying epileptogenic process and allows for the possibility of directed therapeutic approaches. An ideal antiepileptic therapy consists of a drug which is able to influence the functional changes caused by a specific pathogenic variant...
November 10, 2016: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/27766202/pharmaco-fmri-determining-the-functional-anatomy-of-the-effects-of-medication
#16
Britta Wandschneider, Matthias J Koepp
Functional MRI studies have helped to elucidate underlying mechanisms in complex neurological and neuropsychiatric disorders. Disease processes often involve complex large-scale network interactions, extending beyond the presumed main disease focus. Given both the complexity of the clinical phenotype and the underlying dysfunctional brain circuits, so called pharmaco-fMRI (ph-MRI) studies probe pharmacological effects on functional neuro-anatomy, and can help to determine early treatment response, mechanisms of drug efficacy and side effects, and potentially advance CNS drug development...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27765372/gastrodia-elata-and-epilepsy-rationale-and-therapeutic-potential
#17
Mariana Matias, Samuel Silvestre, Amílcar Falcão, Gilberto Alves
BACKGROUND: Gastrodia elata Blume (G. elata) is a traditional Chinese herb used for centuries in folk medicine. Due to the claimed anticonvulsant properties of G. elata, it is expected that this herb continues to be a target of research, aiming to deepen the available knowledge on its biological activity and safety. PURPOSE: The current review aims to discuss the most recent advances on the elucidation of the phytochemical composition and anticonvulsant potential of G...
November 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/27756615/cytoskeletal-dynamics-during-in-vitro-neurogenesis-of-induced-pluripotent-stem-cells-ipscs
#18
Claudia Compagnucci, Emanuela Piermarini, Antonella Sferra, Rossella Borghi, Alessia Niceforo, Stefania Petrini, Fiorella Piemonte, Enrico Bertini
Patient-derived induced pluripotent stem cells (iPSCs) provide a novel tool to investigate the pathophysiology of poorly known diseases, in particular those affecting the nervous system, which has been difficult to study for its lack of accessibility. In this emerging and promising field, recent iPSCs studies are mostly used as "proof-of-principle" experiments that are confirmatory of previous findings obtained from animal models and postmortem human studies; its promise as a discovery tool is just beginning to be realized...
December 2016: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/27651245/epigenetic-modifications-in-neurological-diseases-natural-products-as-epigenetic-modulators-a-treatment-strategy
#19
Omkaram Gangisetty, Sengottuvelan Murugan
Epigenetic modifications, including DNA methylation, covalent histone modifications, and small noncoding RNAs, play a key role in regulating the gene expression. This regulatory mechanism is important in cellular differentiation and development. Recent advances in the field of epigenetics extended the role of epigenetic mechanisms in controlling key biological processes such as genome imprinting and X-chromosome inactivation. Aberrant epigenetic modifications are associated with the development of many diseases...
2016: Advances in Neurobiology
https://www.readbyqxmd.com/read/27639356/dynamic-causal-modelling-of-seizure-activity-in-a-rat-model
#20
Margarita Papadopoulou, Gerald Cooray, Richard Rosch, Rosalyn Moran, Daniele Marinazzo, Karl Friston
This paper presents a physiological account of seizure activity and its evolution over time using a rat model of induced epilepsy. We analyse spectral activity recorded in the hippocampi of three rats who received kainic acid injections in the right hippocampus. We use dynamic causal modelling of seizure activity and Bayesian model reduction to identify the key synaptic and connectivity parameters that underlie seizure onset. Using recent advances in hierarchical modelling (parametric empirical Bayes), we characterise seizure onset in terms of slow fluctuations in synaptic excitability of specific neuronal populations...
September 14, 2016: NeuroImage
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