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epilepsy pathophysiology

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...
October 15, 2016: Molecular and Cellular Neurosciences
Wolfgang Löscher, Michel Gillard, Zara A Sands, Rafal M Kaminski, Henrik Klitgaard
The synaptic vesicle glycoprotein SV2A belongs to the major facilitator superfamily (MFS) of transporters and is an integral constituent of synaptic vesicle membranes. SV2A has been demonstrated to be involved in vesicle trafficking and exocytosis, processes crucial for neurotransmission. The anti-seizure drug levetiracetam was the first ligand to target SV2A and displays a broad spectrum of anti-seizure activity in various preclinical models. Several lines of preclinical and clinical evidence, including genetics and protein expression changes, support an important role of SV2A in epilepsy pathophysiology...
October 17, 2016: CNS Drugs
Marivi Nabong Moen, Roar Fjær, El Hassan Hamdani, Jon K Laerdahl, Robin Johansen Menchini, Magnus Dehli Vigeland, Ying Sheng, Dag Erik Undlien, Bjørnar Hassel, Mustafa A Salih, Heba Y El Khashab, Kaja Kristine Selmer, Farrukh Abbas Chaudhry
Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks. In his second year he lost the ability to walk and talk, and he developed drug-resistant progressive myoclonus epilepsy. The cerebrospinal fluid level of glutamate was decreased while glutamine was increased. His younger brother manifested similar symptoms from 6 months of age...
October 14, 2016: Brain: a Journal of Neurology
Isabel Vieira de Assis Lima, Alline Cristina de Campos, Paula Maria Quaglio Bellozi, Juliana Guimaraes Doria, Fabiola Mara Ribeiro, Marcio Flavio Dutra Moraes, Antonio Carlos Pinheiro de Oliveira
Temporal lobe epilepsy (TLE) is the most common form of epilepsy in adults. The pilocarpine (PILO) experimental model of TLE portrays behavioral and pathophysiological changes in rodents that are very similar to those found in humans with TLE. However, this model is associated with an unfortunate high mortality rate. Studies have shown that intrahippocampal injection of PILO, while having a much smaller mortality rate, induces status epilepticus (SE) that secondarily leads to TLE. To the best of our knowledge, the present study was the first to evaluate the cognitive and histological alterations 72h after intrahippocampal microinjection of PILO in C57BL/6 mice...
October 10, 2016: Epilepsy & Behavior: E&B
Feng Liu, Yifeng Wang, Meiling Li, Wenqin Wang, Rong Li, Zhiqiang Zhang, Guangming Lu, Huafu Chen
Idiopathic generalized epilepsy (IGE) has been linked with disrupted intra-network connectivity of multiple resting-state networks (RSNs); however, whether impairment is present in inter-network interactions between RSNs, remains largely unclear. Here, 50 patients with IGE characterized by generalized tonic-clonic seizures (GTCS) and 50 demographically matched healthy controls underwent resting-state fMRI scans. A dynamic method was implemented to investigate functional network connectivity (FNC) in patients with IGE-GTCS...
October 11, 2016: Human Brain Mapping
Cinzia Costa, Lucilla Parnetti, Marcello D'Amelio, Alessandro Tozzi, Michela Tantucci, Andrea Romigi, Sabrina Siliquini, Virve Cavallucci, Massimiliano Di Filippo, Petra Mazzocchetti, Claudio Liguori, Annalisa Nobili, Paolo Eusebi, Nicola B Mercuri, Paolo Calabresi
Experimental and clinical observations indicate that amyloid-β1-42 (Aβ1-42) peptide not only represents a major actor in neurodegenerative mechanisms but also induce hyperexcitation in individual neurons and neural circuits. In this abnormal excitability, possibly leading to seizures, the D1 dopamine (DA) receptors may play a role. Cerebrospinal fluid levels of Aβ1-42 were measured in patients with late-onset epilepsy of unknown etiology. Moreover, the effect of amyloid peptide on the hippocampal epileptic threshold and synaptic plasticity and its link to D1 receptor function were tested in experimental mouse model of cerebral amyloidosis and in acute model of Aβ1-42-induced neurotoxicity...
September 3, 2016: Neurobiology of Aging
Manveen Bhardwaj, Anil Kumar
BACKGROUND: Neuroinflammation, oxidative stress and mitochondrial dysfunction play a significant role to explain the pathophysiology of epilepsy. Neuroinflammation through microglia activation has been documented in epileptogenesis. Compounds which inhibit activation of glial cells have been suggested as one of the treatment approaches for the effective treatment of epilepsy. The present study has been designed to investigate the role of coenzyme Q10 and its interaction with minocycline (microglia inhibitor) against pentylenetetrazol induced kindling epilepsy...
July 22, 2016: Pharmacological Reports: PR
Bénédicte Danis, Marijke van Rikxoort, Anita Kretschmann, Jiong Zhang, Patrice Godard, Lidija Andonovic, Franziska Siegel, Pitt Niehusmann, Etienne Hanon, Daniel Delev, Marec von Lehe, Rafal M Kaminski, Alexander Pfeifer, Patrik Foerch
Epilepsy is one of the most common neurological disorders characterized by recurrent seizures due to neuronal hyperexcitability. Here we compared miRNA expression patterns in mesial temporal lobe epilepsy with and without hippocampal sclerosis (mTLE + HS and mTLE -HS) to investigate the regulatory mechanisms differentiating both patient groups. Whole genome miRNA sequencing in surgically resected hippocampi did not reveal obvious differences in expression profiles between the two groups of patients. However, one microRNA (miR-184) was significantly dysregulated, which was confirmed by qPCR...
September 26, 2016: Scientific Reports
Elza Márcia Yacubian
PURPOSE: Since its initial 1957 description, juvenile myoclonic epilepsy (JME) has been recognized as a common epileptic syndrome worldwide. METHODS: We reviewed a series of articles on JME to clarify challenges in clinical and pathophysiological findings, treatment and outcome. RESULTS: Typical JME characteristics include: 1) the age at seizure onset between 10 and 25 years; 2) the triad of myoclonia, generalized tonic-clonic seizures, and absences, of which only myoclonia is a mandatory criterion; 3) cognitive dysfunction that may have impact on interpersonal relationships and social outcome; 4) possibility of seizure control in up to 80% of individuals, in particular with the use of sodium valproate; 5) a tendency for lifelong seizures with an early morning preponderance; 6) after decades from the clinical onset, a possibility to be off medications for a third of the patients, and 7) several prognostic factors...
September 15, 2016: Seizure: the Journal of the British Epilepsy Association
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
Daichi Sone, Miho Ota, Norihide Maikusa, Yukio Kimura, Kaoru Sumida, Kota Yokoyama, Etsuko Imabayashi, Masako Watanabe, Yutaka Watanabe, Mitsutoshi Okazaki, Noriko Sato, Hiroshi Matsuda
PURPOSE: Cases of temporal lobe epilepsy (TLE) with ipsilateral amygdala enlargement (AE) have increasingly been reported. However, the white matter (WM) abnormalities of TLE patients with AE remain poorly investigated. Here we explored macrostructural and microstructural WM abnormalities in TLE patients with AE compared to normal controls and TLE patients with hippocampal sclerosis (HS). MATERIAL AND METHODS: We selected 17 patients with unilateral TLE with AE (TLE-AE) based on automated amygdala volumetry using FreeSurfer software, and 34 healthy controls and 35 patients with unilateral TLE with HS (TLE-HS) were also recruited...
September 11, 2016: Epilepsy Research
Sarah A Vinette, Shahleen Premji, Craig A Beers, Ismael Gaxiola-Valdez, Daniel J Pittman, Edward G Slone, Bradley G Goodyear, Paolo Federico
The pre-ictal state is of interest for better understanding pathophysiological processes leading up to seizures and for identifying potential biomarkers for the prediction of these events. We present two cases of patients with focal epilepsy (occipital, insular) who had seizures during functional magnetic resonance imaging (fMRI) scans. Interictal (>30min pre-seizure) control data was available for one participant. The location and timing of pre-ictal blood oxygenation-level dependent (BOLD) signal alterations were examined along with changes in pre-ictal functional connectivity...
September 8, 2016: Epilepsy Research
Dragos A Nita, Sara E Mole, Berge A Minassian
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative conditions that associate cognitive decline, progressive cerebellar atrophy, retinopathy, and myoclonic epilepsy. NCL result from the excessive accumulation of neuronal and extraneuronal lipopigments, despite having diverse underlying biochemical aetiologies. Here we review the clinical presentation, pathophysiology and genetics of these conditions as well as the approach to diagnosis and management.
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Harpreet S Sidhu, Akshay Sadhotra
Antiepileptic drugs (AEDs) are extensively used worldwide to treat a wide range of disorders other than epilepsy, such as neuropathic pain, migraine, and bipolar disorder. Due to this situation more than 20 new third-generation AEDs have been introduced in the market recently. The future design of new AEDs must also have potential to help in the non-epileptic disorders. The wide acceptance of second generation AEDs for the management of various non-epileptic disorders has caused the emergence of generics in the market...
2016: Frontiers in Pharmacology
Kanokwan Limnuson, Raj K Narayan, Amrit Chiluwal, Eugene V Golanov, Chad E Bouton, Chunyan Li
Multimodal monitoring of brain activity, physiology, and neurochemistry is an important approach to gain insight into brain function, modulation, and pathology. With recent progress in micro- and nanotechnology, micro-nano-implants have become important catalysts in advancing brain research. However, to date, only a limited number of brain parameters have been measured simultaneously in awake animals in spite of significant recent progress in sensor technology. Here we have provided a cost and time effective approach to designing a headstage to conduct a multimodality brain monitoring in freely moving animals...
2016: Frontiers in Neuroscience
F Gao, Y Gao, S-J Zhang, X Zhe, F-L Meng, H Qian, B Zhang, Y-J Li
OBJECTIVE: Emerging evidence suggests that inflammatory cytokines are involved in pathophysiology of epilepsy. However, possible interaction between the cytokines and active epilepsy remains unclear. This study aimed to interictal and postictal plasma cytokines in active epilepsy patients. MATERIALS AND METHODS: We enrolled 48 patients with active epilepsy and 30 healthy adults and measured postictal and interictal interleukin-1β (IL-1β), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), interferon gamma (IFN-γ), interleukin-10 (IL-10), and interleukin-17A (IL-17A) concentrations in peripheral blood by enzyme-linked immunosorbent assay (ELISA)...
September 4, 2016: Acta Neurologica Scandinavica
Arielle Crespel, Edoardo Ferlazzo, Silvana Franceschetti, Pierre Genton, Riadh Gouider, Reetta Kälviäinen, Miikka Korja, Maria K Lehtinen, Esa Mervaala, Michele Simonato, Annika Vaarmann
We first review the clinical presentation and current therapeutic approaches available for treating Unverricht-Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we describe the identification of disease causing mutations in the gene encoding cystatin B (CSTB). A Cstb-deficient mouse model, which recapitulates the key features of ULD including myoclonic seizures, ataxia, and neuronal loss, was generated to shed light on the mechanisms contributing to disease pathophysiology. Studies with this model have elucidated the diverse biological roles for Cstb from functioning as a protease inhibitor, to regulating glial activation, oxidative stress, serotonergic neurotransmission, and hyperexcitability...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Itzhak Fried
Deep brain stimulation has been successfully used in treatment of motor symptoms of Parkinson's disease and other movement disorders. In a recent multi-center prospectively randomized study, deep brain stimulation of the fornix was administered in order to ameliorate the cognitive symptoms and clinical course of Alzheimer's disease (AD). The study points to the possibility of modest slowing of the cognitive decline in AD in a subset of patients older than 65, while at the same time highlights the risk of stimulation in exacerbation of this decline in younger patients...
September 6, 2016: Journal of Alzheimer's Disease: JAD
Anouk Van de Vel, Kris Cuppens, Bert Bonroy, Milica Milosevic, Katrien Jansen, Sabine Van Huffel, Bart Vanrumste, Patrick Cras, Lieven Lagae, Berten Ceulemans
PURPOSE: Detection of, and alarming for epileptic seizures is increasingly demanded and researched. Our previous review article provided an overview of non-invasive, non-EEG (electro-encephalography) body signals that can be measured, along with corresponding methods, state of the art research, and commercially available systems. Three years later, many more studies and devices have emerged. Moreover, the boom of smart phones and tablets created a new market for seizure detection applications...
October 2016: Seizure: the Journal of the British Epilepsy Association
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A Aleck, Lorenzo D Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N'Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M Strom, Holger Prokisch, Antonio Miranda-Vizuete, Georg F Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau
Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children from four unrelated families affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disorders, and/or early-onset intractable epilepsy. UBA5 encodes the E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1), a recently identified ubiquitin-like protein. Biochemical studies of mutant UBA5 proteins and studies in fibroblasts from affected individuals revealed that UBA5 mutations impair the process of ufmylation, resulting in an abnormal endoplasmic reticulum structure...
September 1, 2016: American Journal of Human Genetics
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