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Seizure epilepsy

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https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#1
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327467/automated-detection-of-epileptic-ripples-in-meg-using-beamformer-based-virtual-sensors
#2
Carolina Migliorelli, Joan Alonso, Sergio Romero, Rafal Nowak, Antonio Russi, Miguel Mananas
OBJECTIVE: In epilepsy, high-frequency oscillations (HFOs) are considered events highly linked to the seizure onset zone (SOZ). The detection of HFOs in noninvasive signals such as scalp EEG and MEG is still a challenging task. The aim of this study was to automatize the detection of ripples in MEG signals reducing the high-frequency noise using beamformer-based virtual sensors (VS) and applying an automatic procedure exploring the time-frequency content of the detected events. APPROACH: 200 seconds of MEG signals and simultaneous iEEG were selected in nine patients with refractory epilepsy...
March 22, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28326013/molecular-chaperone-calnexin-regulates-the-function-of-drosophila-sodium-channel-paralytic
#3
Xi Xiao, Changyan Chen, Tian-Ming Yu, Jiayao Ou, Menglong Rui, Yuanfen Zhai, Yijing He, Lei Xue, Margaret S Ho
Neuronal activity mediated by voltage-gated channels provides the basis for higher-order behavioral tasks that orchestrate life. Chaperone-mediated regulation, one of the major means to control protein quality and function, is an essential route for controlling channel activity. Here we present evidence that Drosophila ER chaperone Calnexin colocalizes and interacts with the α subunit of sodium channel Paralytic. Co-immunoprecipitation analysis indicates that Calnexin interacts with Paralytic protein variants that contain glycosylation sites Asn313, 325, 343, 1463, and 1482...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#4
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325560/long-term-prognosis-of-childhood-absence-epilepsy
#5
C Martínez-Ferrández, E Martínez-Salcedo, C Casas-Fernández, H Alarcón-Martínez, S Ibáñez-Micó, R Domingo-Jiménez
INTRODUCTION: Childhood absence epilepsy (CAE) is considered easily manageable with medication provided that a strict patient classification system is employed. It accounts for 10% of all childhood epilepsy cases starting before the age of 15 and it is most frequent in school-aged girls. The aim of this study is to analyse long-term outcomes of patients diagnosed with CAE according to the Loiseau and Panayiotopoulos criteria and treated during childhood. METHODS: We conducted a retrospective study including 69 patients with CAE who are currently older than 11; data were gathered from medical histories, EEG records, and telephone questionnaires...
March 18, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28325299/potent-anti-seizure-effects-of-locked-nucleic-acid-antagomirs-targeting-mir-134-in-multiple-mouse-and-rat-models-of-epilepsy
#6
Cristina R Reschke, Luiz F Almeida Silva, Braxton A Norwood, Ketharini Senthilkumar, Gareth Morris, Amaya Sanz-Rodriguez, Ronán M Conroy, Lara Costard, Valentin Neubert, Sebastian Bauer, Michael A Farrell, Donncha F O'Brien, Norman Delanty, Stephanie Schorge, R Jeroen Pasterkamp, Felix Rosenow, David C Henshall
Current anti-epileptic drugs (AEDs) act on a limited set of neuronal targets, are ineffective in a third of patients with epilepsy, and do not show disease-modifying properties. MicroRNAs are small noncoding RNAs that regulate levels of proteins by post-transcriptional control of mRNA stability and translation. MicroRNA-134 is involved in controlling neuronal microstructure and brain excitability and previous studies showed that intracerebroventricular injections of locked nucleic acid (LNA), cholesterol-tagged antagomirs targeting microRNA-134 (Ant-134) reduced evoked and spontaneous seizures in mouse models of status epilepticus...
March 17, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28324955/identifying-important-regions-in-eeg-epilepsy-brain-networks
#7
Nantia D Iakovidou, Manolis Christodoulakis, Eleftherios S Papathanasiou, Savvas S Papacostas, Georgios D Mitsis
The human brain has been called the most complex object in the known universe and in many ways it constitutes the final frontier of science. Lately, the functional connectivity in human brain has been regarded and studied as a complex network using electroencephalography (EEG) signals. This means that the brain is studied as a connected system, where nodes represent different specialized brain regions and links or connections, represent communication pathways between the nodes. It is also fairly established that graph theory provides a variety of measures, methods and tools that can be useful to efficiently model, analyze and study an EEG network...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324954/hardware-friendly-seizure-detection-with-a-boosted-ensemble-of-shallow-decision-trees
#8
Mahsa Shoaran, Masoud Farivar, Azita Emami
Efficient on-chip learning is becoming an essential element of implantable biomedical devices. Despite a substantial literature on automated seizure detection algorithms, hardware-friendly implementation of such techniques is not sufficiently addressed. In this paper, we propose to employ a gradientboosted ensemble of decision trees to achieve a reasonable trade-off between detection accuracy and implementation cost. Combined with the proposed feature extraction model, we show that these classifiers quickly become competitive with more complex learning models previously proposed for hardware implementation, with only a small number of low-depth (d <; 4) "shallow" trees...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324947/a-sparse-laguerre-volterra-autoregressive-model-for-seizure-prediction-in-temporal-lobe-epilepsy
#9
Pen-Ning Yu, Shokofeh A Naiini, Christi N Heck, Charles Y Liu, Dong Song, Theodore W Berger
A sparse Laguerre-Volterra autoregressive model has been developed as feature extraction from subdural human EEG data for seizure prediction in temporal lobe epilepsy. The use of Laguerre-Volterra kernel can compactly yield an autoregressive model of longer system memory without increasing the number of the coefficients. In 6 sets of seizure, we used a sparse Laguerre-Volterra autoregressive model with 6 coefficients and the decay parameter of 0.2 and obtained the 10-fold cross-validation prediction results of high Matthews correlation coefficients (0...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28324765/hd-tdcs-in-refractory-lateral-frontal-lobe-epilepsy-patients
#10
Sanaz Ahmadi Karvigh, Mahmoud Motamedi, Mahsa Arzani, Javad Hasan Nia Roshan
PURPOSE: To evaluate the anticonvulsant effect of the novel high definition transcranial direct current stimulation (HD-tDCS) method on patients with refractory lateral frontal lobe epilepsy. The effects of HD-tDCS on working memory were also examined. METHOD: 10 adult patients with intractable lateral frontal lobe epilepsy were studied. A central cathode electrode was placed on the epileptogenic zone according to LTM, and 20-min sessions of 2mA HD-tDCS were applied for 10 consecutive days...
March 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28324681/morphometric-mri-features-are-associated-with-surgical-outcome-in-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#11
Maria Teresa Fernandes Castilho Garcia, Larissa Botelho Gaça, Gabriel Barbosa Sandim, Idaiane Batista Assunção Leme, Henrique Carrete, Ricardo Silva Centeno, João Ricardo Sato, Elza Márcia Targas Yacubian
PURPOSE: Corticoamygdalohippocampectomy (CAH) improves seizure control, quality of life, and decreases mortality for refractory mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). One-third of patients continue having seizures, and it is pivotal to determine structural abnormalities that might influence the postoperative outcome. Studies indicate that nonhippocampal regions may play a role in the epileptogenic network in MTLE-HS and could generate seizures postoperatively...
March 1, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28324653/evaluation-of-brain-pharmacokinetic-and-neuropharmacodynamic-attributes-of-antiepileptic-drug-lacosamide-in-hepatic-and-renal-impairment-preclinical-evidence
#12
Baldeep Kumar, Manish Modi, Biman Saikia, Bikash Medhi
The knowledge of pharmacokinetic and pharmacodynamic properties of antiepileptic drugs is helpful in optimizing drug therapy for epilepsy. This study was designed to evaluate the pharmacokinetic and pharmacodynamic properties of lacosamide in experimentally induced hepatic and renal impairment in seizure animals. Hepatic or renal impairment was induced by injection of carbon tetrachloride or diclofenac sodium, respectively. After induction, the animals were administered with a single dose of lacosamide. At different time points, MES seizure recordings were done followed by isolation of plasma and brain samples for drug quantification and pharmacodynamic measurements...
March 21, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28324301/neuroimaging-in-epilepsy
#13
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/28324217/rare-slc1a1-variants-in-hot-water-epilepsy
#14
Kalpita Rashimi Karan, P Satishchandra, Sanjib Sinha, Anuranjan Anand
Hot water epilepsy is sensory epilepsy, wherein seizures are triggered by an unusual stimulus: contact with hot water. Although genetic factors contribute to the etiology of hot water epilepsy, molecular underpinnings of the disorder remain largely unknown. We aimed to identify the molecular genetic basis of the disorder by studying families with two or more of their members affected with hot water epilepsy. Using a combination of genome-wide linkage mapping and whole exome sequencing, a missense variant was identified in SLC1A1 in a three-generation family...
March 21, 2017: Human Genetics
https://www.readbyqxmd.com/read/28323007/intrathecal-application-of-the-microglial-inhibitor-minocycline-attenuates-sympathoexcitatory-and-proarrhythmogenic-changes-in-rats-with-chronic-temporal-lobe-epilepsy
#15
Amol M Bhandare, Komal Kapoor, Kim L Powell, Emma Braine, Pablo Casillas-Espinosa, Terence J O'Brien, Melissa M J Farnham, Paul M Pilowsky
The incidence of sudden unexpected death in epilepsy (SUDEP) is highest in people with chronic and drug resistant epilepsy. Chronic spontaneous recurrent seizures cause cardiorespiratory autonomic dysfunctions. Pituitary adenylate cyclase-activating polypeptide (PACAP) is neuroprotective, whereas microglia produce both pro- and anti- inflammatory effects in the CNS. During acute seizures in rats, PACAP and microglia produce sympathoprotective effect at the intermediolateral cell column (IML), whereas their action on the presympathetic rostral ventrolateral medulla (RVLM) neurons mediates proarrhythmogenic changes...
March 16, 2017: Neuroscience
https://www.readbyqxmd.com/read/28322853/the-role-of-histopathologic-subtype-in-the-setting-of-hippocampal-sclerosis-associated-mesial-temporal-lobe-epilepsy
#16
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/28322425/correction-and-author-s-response-to-comment-on-modern-management-of-seizures-and-epilepsy
#17
Margitta Seeck, Markus Gschwind
No abstract text is available yet for this article.
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28322420/comment-on-modern-management-of-seizures-and-epilepsy
#18
Dirk Körschenhausen
No abstract text is available yet for this article.
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28322026/objective-3d-surface-evaluation-of-intracranial-electrophysiologic-correlates-of-cerebral-glucose-metabolic-abnormalities-in-children-with-focal-epilepsy
#19
Jeong-Won Jeong, Eishi Asano, Vinod Kumar Pilli, Yasuo Nakai, Harry T Chugani, Csaba Juhász
To determine the spatial relationship between 2-deoxy-2[(18) F]fluoro-D-glucose (FDG) metabolic and intracranial electrophysiological abnormalities in children undergoing two-stage epilepsy surgery, statistical parametric mapping (SPM) was used to correlate hypo- and hypermetabolic cortical regions with ictal and interictal electrocorticography (ECoG) changes mapped onto the brain surface. Preoperative FDG-PET scans of 37 children with intractable epilepsy (31 with non-localizing MRI) were compared with age-matched pseudo-normal pediatric control PET data...
March 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28320269/status-epilepticus-impairs-synaptic-plasticity-in-rat-hippocampus-and-is-followed-by-changes-in-expression-of-nmda-receptors
#20
T Y Postnikova, O E Zubareva, A A Kovalenko, K K Kim, L G Magazanik, A V Zaitsev
Cognitive deficits and memory loss are frequent in patients with temporal lobe epilepsy. Persistent changes in synaptic efficacy are considered as a cellular substrate underlying memory processes. Electrophysiological studies have shown that the properties of short-term and long-term synaptic plasticity in the cortex and hippocampus may undergo substantial changes after seizures. However, the neural mechanisms responsible for these changes are not clear. In this study, we investigated the properties of short-term and long-term synaptic plasticity in rat hippocampal slices 24 h after pentylenetetrazole (PTZ)-induced status epilepticus...
March 2017: Biochemistry. Biokhimii︠a︡
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