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https://www.readbyqxmd.com/read/27905566/early-onset-epileptic-encephalopathy-caused-by-a-reduced-sensitivity-of-kv7-2-potassium-channels-to-phosphatidylinositol-4-5-bisphosphate
#1
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michela De Maria, Edoardo Moretto, Francesco Miceli, Alessandro Alaimo, Nunzio Iraci, Laura Manocchio, Alessandro Medoro, Maria Passafaro, Maurizio Taglialatela
Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K(+) current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP2). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the biochemical and functional consequences prompted by a recurrent variant (R325G) found independently in four individuals with severe forms of neonatal-onset EE have been investigated...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905510/remarkable-alterations-of-nav1-6-in-reactive-astrogliosis-during-epileptogenesis
#2
Hongyan Zhu, Yuxiao Zhao, Hao Wu, Nan Jiang, Ziyi Wang, Weide Lin, Jiahui Jin, Yonghua Ji
Voltage-gated sodium channels (VGSCs) play a vital role in controlling neuronal excitability. Nav1.6 is the most abundantly expressed VGSCs subtype in the adult central nervous system and has been found to contribute to facilitate the hyperexcitability of neurons after electrical induction of status epilepticus (SE). To clarify the exact expression patterns of Nav1.6 during epileptogenesis, we examined the expression of Nav1.6 at protein and mRNA levels in two distinct animal models of temporal lobe epilepsy (TLE) including a post-SE model induced by kainic acid (KA) intrahippocampal injection and a kindling model evoked by pentylenetetrazole (PTZ)...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27905093/magnetic-resonance-imaging-guided-laser-interstitial-thermal-therapy-for-treatment-of-drug-resistant-epilepsy
#3
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/27905012/microbial-proteins-as-novel-industrial-biotechnology-hosts-to-treat-epilepsy
#4
REVIEW
Zareen Amtul, Amal A Aziz
Epilepsy is characterized by the hyperexcitability of various neuronal circuits that results due to the imbalance between glutamate-mediated excitation of voltage-gated cation channels and γ-amino butyric acid (GABA)-mediated inhibition of anion channels leading to aberrant, sporadic oscillations or fluctuations in neuronal electrical activity. Epilepsy with a risk of mortality and around 65 million sufferers of all ages all over the world is limited therapeutically with high rates of adverse reactions, lack of complete seizure control, and over 30% patients with refractory epilepsy...
December 1, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27903766/sudden-unexpected-death-in-epilepsy-measures-to-reduce-risk
#5
REVIEW
Brendan Mclean, Rohit Shankar, Jane Hanna, Caryn Jory, Craig Newman
This review looks at the strategies that may help to reduce the risk of sudden unexpected death in epilepsy beyond that of trying to achieve seizure cessation, which is not possible for up to 30% of patients with epilepsy. These strategies include seizure safety checklists, mobile phone technology, telehealth and various devices currently available or in development. We highlight interventions where there is evidence of benefit, and draw attention for the need both to involve patients with epilepsy in risk reduction and to improve communication with those at risk...
November 30, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27903764/epilepsy-and-music-practical-notes
#6
REVIEW
M Maguire
Music processing occurs via a complex network of activity far beyond the auditory cortices. This network may become sensitised to music or may be recruited as part of a temporal lobe seizure, manifesting as either musicogenic epilepsy or ictal musical phenomena. The idea that sound waves may directly affect brain waves has led researchers to explore music as therapy for epilepsy. There is limited and low quality evidence of an antiepileptic effect with the Mozart Sonata K.448. We do not have a pathophysiological explanation for the apparent dichotomous effect of music on seizures...
November 30, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27903734/deviations-from-critical-dynamics-in-interictal-epileptiform-activity
#7
Oshrit Arviv, Mordekhay Medvedovsky, Liron Sheintuch, Abraham Goldstein, Oren Shriki
: The framework of criticality provides a unifying perspective on neuronal dynamics from in vitro cortical cultures to functioning human brains. Recent findings suggest that a healthy cortex displays critical dynamics, giving rise to scale-free spatiotemporal cascades of activity, termed neuronal avalanches. Pharmacological manipulations of the excitation-inhibition balance (EIB) in cortical cultures were previously shown to result in deviations from criticality and from the power law scaling of avalanche size distribution...
November 30, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27903293/personalized-medicine-approach-confirms-a-milder-case-of-abat-deficiency
#8
A Besse, A K Petersen, J V Hunter, V Appadurai, S R Lalani, P E Bonnen
ABAT deficiency (OMIM 613163) is a rare inborn error of metabolism caused by recessive variants in the gene 4-aminobutyric acid transaminase (ABAT), which is responsible for both the catalysis of GABA and maintenance of nucleoside pools in the mitochondria. To date, only a few patients have been reported worldwide. Their clinical presentation has been remarkably consistent with primary features of severe psychomotor retardation, encephalopathy, hypotonia, and infantile-onset refractory epilepsy. We report a new case of ABAT deficiency that marks an important departure from previous clinical findings...
December 1, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27901260/aliocha-dostoevski-s-death-during-an-epileptic-seizure
#9
Edson José Amâncio, Pedro André Kowacs, Bruno Toshio Takeshita, Fábio Augusto Nascimento, Hélio Afonso Ghizoni Teive
Mortality due to epilepsy is of great concern worldwide. Individuals with epilepsy have a two- or three-fold risk of death when compared to the general population. Based on biographical data and Anna Grigoriévna Dostoevskaia's memories, the authors concluded that a prolonged episode of status epilepticus was the culprit in the death of young Aliocha, youngest son of Fyodor Mikhailovich and Anna Dostoevski. At the time of Aliocha's death, very limited knowledge about epilepsy or therapeutic resources was available...
November 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27900402/effects-of-ugt1a9-genetic-polymorphisms-on-monohydroxylated-derivative-of-oxcarbazepine-concentrations-and-oxcarbazepine-monotherapeutic-efficacy-in-chinese-patients-with-epilepsy
#10
Yao Lu, Youxin Fang, Xunyi Wu, Chunlai Ma, Yue Wang, Lan Xu
AIM: The human UDP-glucuronosyltransferase which is genetically polymorphic catalyzes glucuronidations of various drugs. The interactions among UGT1A4, UGT1A6, UGT1A9, and UGT2B15 genetic polymorphisms, monohydroxylated derivative (MHD) of oxcarbazepine (OXC) plasma concentrations, and OXC monotherapeutic efficacy were explored in 124 Chinese patients with epilepsy receiving OXC monotherapy. METHOD: MHD is the major active metabolite of OXC, and its plasma concentration was measured using high-performance liquid chromatography when patients reached their maintenance dose of OXC...
November 29, 2016: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27900360/scn8a-mutation-in-a-child-presenting-with-seizures-and-developmental-delays
#11
Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27897304/-the-role-of-diffusion-tensor-imaging-in-the-pre-surgical-study-of-temporal-lobe-epilepsy
#12
M A Garcia-Pallero, C V Torres, R Manzanares-Soler, E Camara, R G Sola
INTRODUCTION: Diffusion tensor imaging (DTI) is a non-invasive technique that can be used to assess the integrity of the white matter in the brain. AIMS: To investigate the usefulness of DTI in patients with temporal lobe epilepsy (TLE) and to observe its relationship with lateralisation of the epileptogenic focus in these patients. PATIENTS AND METHODS: We analysed 11 patients diagnosed with TLE in accordance with the pre-surgical protocol of our epilepsy unit, and who were seizure-free two years after performing a temporal lobectomy plus amygdalohippocampectomy (Spencer technique)...
December 16, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27896067/relationship-between-high-frequency-oscillations-and-spikes-in-a-case-of-temporal-lobe-epilepsy
#13
Vishwanath Sagi, M Steven Evans
OBJECTIVE: The aim of this case report was to study the relationship between high-frequency oscillations (HFOs), spikes, and seizures in a patient with temporal lobe epilepsy. INTRODUCTION: During intracranial electroencephalography (EEG), HFOs are thought to be a marker for the seizure onset zone (SOZ). High-frequency oscillations are classified into ripples with frequencies of 70-200 Hz and fast ripples with frequencies of 200-500 Hz. Although HFOs are thought to be a marker for the SOZ, their relationship to spikes has not been studied in detail, especially within the SOZ...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27895691/prognostic-factors-of-neurological-outcomes-in-late-preterm-and-term-infants-with-perinatal-asphyxia
#14
Sun Young Seo, Gyu Hong Shim, Myoung Jae Chey, Su Jeong You
PURPOSE: This study aimed to identify prognostic factors of neurological outcomes, including developmental delay, cerebral palsy and epilepsy in late-preterm and term infants with perinatal asphyxia. METHODS: All late-preterm and term infants with perinatal asphyxia or hypoxic-ischemic insults who admitted the neonatal intensive care unit of Inje University Sanggye Paik Hospital between 2006 and 2014 and were followed up for at least 2 years were included in this retrospective study...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27895618/cyclooxygenase-1-as-a-potential-therapeutic-target-for-seizure-suppression-evidences-from-zebrafish-pentylenetetrazole-seizure-model
#15
Patrícia Gonçalves Barbalho, Benilton de Sá Carvalho, Iscia Lopes-Cendes, Claudia Vianna Maurer-Morelli
Cyclooxygenases (COX)-1 and -2 are isoenzymes that catalyze the conversion of arachidonic acid into prostaglandins (PGs). COX-2 and PGs are rapidly increased following seizures and are known to play important roles in the neuroinflammatory process. COX-2 isoform has been predominantly explored as the most suitable target for pharmacological intervention in epilepsy studies, while COX-1 remains poorly investigated. In the present study, we evaluated the effects of selective COX-1 inhibitor or selective COX-2 inhibitor on seizure suppression in the zebrafish pentylenetetrazole (PTZ)-seizure model...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27894944/surface-projected-flair-supr-flair-analysis-a-novel-tool-for-advanced-imaging-of-epilepsy
#16
Francesco Cardinale, Stefano Francione, Luciana Gennari, Alberto Citterio, Maurizio Sberna, Laura Tassi, Roberto Mai, Ivana Sartori, Lino Nobili, Massimo Cossu, Laura Castana, Giorgio Lo Russo, Nadia Colombo
OBJECTIVE: The objective of this pilot retrospective study is to describe the SUrface-PRojected FLuid-Attenuation-Inversion-Recovery (SUPR-FLAIR) analysis, a novel method mainly aimed at revealing cortical areas with subtle signal hyper-intensity. METHODS: Images from 101 healthy controls and ten patients suffering from drug-resistant partial epilepsy were retrospectively post-processed. Brain surface was reconstructed from a 3D T1-weighted fast field echo (3D T1W-FFE) MRI scan...
November 25, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#17
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27894011/comparison-of-ilae-2010-and-semiological-seizure-classification-in-children-with-epilepsy
#18
Tugba Hirfanoglu, Ayse Serdaroglu, Irem Capraz, Erhan Bilir, Ebru Petek Arhan, Kursad Aydin
OBJECTIVE: The aim of this study was to compare both ILAE 2010 and semiological seizure classification (SSC) in terms of their applicability and utility and to predict epileptogenic zone in children with epilepsy. METHODS: Both ILAE 2010 classification and SSC which is a part of five dimensional classification were applied for a total 138 children by dividing into younger (≤6y/o) and older (>6y/o) age groups over the last two years as retrospectively. After the assessment of the seizures types, epilepsy syndromes, and etiologies; the data were also compared to evaluate if having correlation between epileptogenic zone and seizure subtypes in both ILAE 2010 and SSC...
November 21, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27891785/editorial-brain-malformation-surveillance-in-the-zika-era
#19
EDITORIAL
Edwin Trevathan
The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891419/evaluation-of-hospitalized-intractable-epileptic-children-with-spect-scan-in-ahvaz-south-west-of-iran
#20
Ali Akbar Momen, Faramarz Ahmadi, Arash Malekian, Hannaneh Davoodzadeh, Hossein Kabirinia
INTRODUCTION: Seizures are the most frequent neurologic disorder seen in childhood. Epilepsy is a group of disorders that includes an abnormally increased susceptibility to seizures. AIM: To examine the effectiveness of SPECT (Single Photon Emission Computerized Tomography) in detecting seizure foci in 21 Iranian children who had medically refractory epilepsy. MATERIALS AND METHODS: Children between 2 to 15 years of age with uncontrolled seizures were investigated using SPECT scan as a standardized protocol...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
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