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idiopathic epilepsy

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https://www.readbyqxmd.com/read/28927715/microstructural-white-matter-changes-and-their-relation-to-neuropsychological-deficits-in-patients-with-juvenile-myoclonic-epilepsy
#1
Susanne Knake, Christine Roth, Marcus Belke, Jens Sonntag, Tobias Kniess, Soeren Krach, Andreas Jansen, Jens Sommer, Frieder M Paulus, Barbara Carl, Felix Rosenow, Anke M Hermsen, Katja Menzler
OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common idiopathic generalized epilepsy syndrome. Neuropsychological, electrophysiological, and neuroimaging studies have led to the hypothesis that JME is related to dysfunction of frontal brain regions and mainly frontal thalamocortical networks. METHODS: We investigated possible microstructural white matter abnormalities of 20 patients with JME as compared with 20 healthy control subjects using diffusion tensor imaging (DTI)...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28922360/comparison-of-background-eeg-activity-of-different-groups-of-patients-with-idiopathic-epilepsy-using-shannon-spectral-entropy-and-cluster-based-permutation-statistical-testing
#2
Jose Antonio Urigüen, Begoña García-Zapirain, Julio Artieda, Jorge Iriarte, Miguel Valencia
Idiopathic epilepsy is characterized by generalized seizures with no apparent cause. One of its main problems is the lack of biomarkers to monitor the evolution of patients. The only tools they can use are limited to inspecting the amount of seizures during previous periods of time and assessing the existence of interictal discharges. As a result, there is a need for improving the tools to assist the diagnosis and follow up of these patients. The goal of the present study is to compare and find a way to differentiate between two groups of patients suffering from idiopathic epilepsy, one group that could be followed-up by means of specific electroencephalographic (EEG) signatures (intercritical activity present), and another one that could not due to the absence of these markers...
2017: PloS One
https://www.readbyqxmd.com/read/28913875/alterations-in-the-%C3%AE-2-%C3%AE-ligand-thrombospondin-1-in-a-rat-model-of-spontaneous-absence-epilepsy-and-in-patients-with-idiopathic-genetic-generalized-epilepsies
#3
Ines Santolini, Roberta Celli, Milena Cannella, Tiziana Imbriglio, Michela Guiducci, Pasquale Parisi, Julian Schubert, Michele Iacomino, Federico Zara, Holger Lerche, Slavianka Moyanova, Richard Teke Ngomba, Gilles van Luijtelaar, Giuseppe Battaglia, Valeria Bruno, Pasquale Striano, Ferdinando Nicoletti
OBJECTIVES: Thrombospondins, which are known to interact with the α2 δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether expression of the gene encoding for thrombospondin-1 was altered in the brain of WAG/Rij rats, which model absence epilepsy in humans. In addition, we examined the frequency of genetic variants of THBS1 in a large cohort of children affected by idiopathic/genetic generalized epilepsies (IGE/GGEs)...
September 15, 2017: Epilepsia
https://www.readbyqxmd.com/read/28896000/-symptomatic-absence-seizures-the-least-known-causation-of-absence-seizures
#4
L Carrera-Garcia, I Malaga-Dieguez, R Blanco-Lago, A Diaz-Baamonde, L Santovena-Gonzalez, J Gonzalez-Rato
INTRODUCTION: According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is thought that a structural pathology can favour the appearance of absences in genetically predisposed individuals. CASE REPORTS: We report the cases of two patients with symptomatic absence seizures of childhood onset...
September 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28891522/impairments-of-cingulated-cortex-in-the-generalized-tonic-clonic-seizure-epilepsy-by%C3%A2-combining-morphological-and-functional-connectivity-magnetic-resonance-imaging
#5
Ming Ke, Bixia Jin, Guangyao Liu, Xiaoping Yang
Previous studies suggested that the patients with generalized tonic-clonic seizure had structural abnormalities in the thalamus, cingulated cortex and some other specific brain regions. Concurrently, the abnormality in thalamocortical network and basal ganglia network has been found in idiopathic generalized epilepsy. The cingulated cortex, a nexus of information processing and regulation in human brain, is implicated in the propagation of generalized spike in IGE and the previous studies have suggested that the structural features and functional connectivity of the cingulated cortex have been changed...
2017: Journal of Integrative Neuroscience
https://www.readbyqxmd.com/read/28885121/epilepsy-headache-and-abdominal-pain-after-shunt-surgery-for-idiopathic-normal-pressure-hydrocephalus-the-inph-crash-study
#6
Jenny Larsson, Hanna Israelsson, Anders Eklund, Jan Malm
OBJECTIVE Adverse events related to shunt surgery are common and might have a negative effect on outcome in patients with idiopathic normal pressure hydrocephalus (INPH). The authors' objectives were to establish the frequencies of epilepsy, headache, and abdominal pain and determine their impact on patient quality of life (QOL), in long-term follow-up after shunt surgery for INPH. METHODS One hundred seventy-six shunt-treated patients with INPH (mean age 74 years) and 368 age- and sex-matched controls from the population were included...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28879018/are-we-missing-non-motor-seizures-in-parkinson-s-disease-two-case-reports
#7
Andre Y Son, Alberto Cucca, Shashank Agarwal, Anli Liu, Alessandro Di Rocco, Milton C Biagioni
BACKGROUND: Parkinson's disease (PD) is predominantly recognized for its motor symptoms, but patients struggle from a morbid and heterogeneous collection of non-motor symptoms (NMS-PD) that can affect their quality of life even more. NMS-PD is a rather generalized term and the heterogeneity and non-specific nature of many symptoms poses a clinical challenge when a PD patient presents with non-motor complaints that may not be NMS-PD. CASE PRESENTATION: We report two patients with idiopathic PD who presented with acute episodes of cognitive changes...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28874317/generalized-paroxysmal-fast-activity-in-eeg-an-unrecognized-finding-in-genetic-generalized-epilepsy
#8
Vishwanath Sagi, Inyup Kim, Amar B Bhatt, Hasan Sonmezturk, Bassel W Abou-Khalil, Amir M Arain
OBJECTIVE: To study generalized paroxysmal fast activity (GPFA) in patients with genetic generalized epilepsy (GGE). INTRODUCTION: GPFA is an electroencephalographic (EEG) finding in patients with symptomatic generalized epilepsy consisting of 15-25Hz bifrontally predominant generalized fast activity seen predominantly in sleep. Historically GPFA is linked to epileptic encephalopathy with drug resistant epilepsy and intellectual disability. However, GPFA has been rarely described as an atypical finding in patients with GGE without negative prognostic implication...
September 2, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28865303/defects-at-the-crossroads-of-gabaergic-signaling-in-generalized-genetic-epilepsies
#9
REVIEW
Jing-Qiong Kang
Seizure disorders are very common and affect 3% of the general population. The recurrent unprovoked seizures that are also called epilepsies are highly diverse as to both underlying genetic basis and clinic presentations. Recent genetic advances and sequencing technologies indicate that many epilepsies previously thought to be without known causes, or idiopathic generalized epilepsies (IGEs), are virtually genetic epilepsy as they are caused by genetic variations. IGEs are estimated to account for ∼15-20% of all epilepsies...
August 26, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28863398/anti-epileptic-drug-trials-for-patients-with-drug-resistant-idiopathic-generalised-epilepsy-a-meta-analysis
#10
Niamh Colleran, Tom O Connor, Julie Jordan O Brien
PURPOSE: Determine the impact of anti-epileptic drugs (AED) for drug resistant patients with idiopathic generalised epilepsy. METHODS: A systematic search of Medline, Cumulative Index to Nursing an Allied Health Literature (CINAHL), Cochrane Epilepsy Group Central Specialised Register, Cochrane Central Register of controlled Trials (CENTRAL), Embase and Lenus was performed. Nine randomised controlled trials were included. All trials compared antiepileptic drugs to placebo...
August 20, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28862106/efficacy-of-vagal-nerve-stimulation-for-drug-resistant-epilepsy-is-it-the-stimulation-or-medication
#11
Jaylynn Arcand, Karen Waterhouse, Lizbeth Hernandez-Ronquillo, Aleksander Vitali, Jose F Tellez-Zenteno
BACKGROUND: Vagus nerve stimulation (VNS) therapy has been widely recognized as an alternative for the treatment of drug-resistant epilepsy, although modification of antiepileptic drugs (AEDs) during VNS treatment could explain the improvement in patients. METHODS: We retrospectively assessed the efficacy of VNS in 30 adult patients with epilepsy treated with >6 months of follow-up. The criteria for implantation were the following: (1) not a candidate for resective epilepsy surgery, (2) drug-resistant epilepsy, (3) impairment of quality of life, (4) no other option of treatment, and (5) patients with idiopathic generalized epilepsy who fail to be controlled with appropriate AEDs...
September 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28835045/-analysis-of-gene-mutation-and-clinical-characteristics-in-patients-with-idiopathic-epilepsy
#12
H C Sun, C D Wang, M Y Li, L P Li, X L Zhao, Y P Wang, J Ye
Objective: To explore the association between gene mutations and clinical characteristics in Chinese patients with epilepsy. Methods: A total of twenty-three patients with idiopathic epilepsy admitted to the Xuanwu Hospital of Capital Medical University from January 2014 to July 2016 were included.The age at onset of epilepsy ranged from 8 months to 31 years.All patients were screened for mutations by next-generation of sequencing (NGS), using a targeted capture panel of epilepsy and related seizures to screen forgene causative for or related to epilepsy...
August 15, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28829985/follow-up-study-of-idiopathic-generalized-epilepsy-with-associated-absence-seizure-and-myoclonic-epilepsy-of-infancy
#13
Vincenzo Belcastro, Lucio Giordano, Dario Pruna, Cinzia Peruzzi, Susanna Casellato, Salvatore Barca, Giorgia Carlone, Pasquale Striano, Alberto Verrotti
We evaluated the long-term prognosis of patients featuring the association of absences and myoclonic epilepsy of infancy. Our cohort consisted of 10 male subjects with mean age at seizure onset of 29 months. Follow-up data included seizure outcome and EEG findings. All individuals received antiepileptic drugs (AEDs) as monotherapy (6 patients) or polytherapy (4 patients) for a mean period of 24 months. Over a 30-60 month evaluation period (mean: 43 months), all patients were seizure-free. Follow-up data after withdrawal of antiepileptic therapy were obtained for a mean period of 22 months...
August 14, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28803659/seizing-control-of-kcc2-a-new-therapeutic-target-for-epilepsy
#14
REVIEW
Yvonne E Moore, Matt R Kelley, Nicholas J Brandon, Tarek Z Deeb, Stephen J Moss
Deficits in GABAergic inhibition result in the abnormal neuronal activation and synchronization that underlies seizures. However, the molecular mechanisms responsible for transforming a normal brain into an epileptic one remain largely unknown. Hyperpolarizing inhibition mediated by type A GABA (GABAA) receptors is dependent on chloride extrusion by the neuron-specific type 2K(+)-Cl(-) cotransporter (KCC2). Loss-of-function mutations in KCC2 are a known cause of infantile epilepsy in humans and KCC2 dysfunction is present in patients with both idiopathic and acquired epilepsy...
August 10, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28800038/subclinical-rhythmic-eeg-discharge-of-adult-sreda-in-a-child-with-generalized-epilepsy-and-literature-review-of-sreda-in-children
#15
Marcie Goeden, Lalit R Bansal
Subclinical rhythmic discharges of adult (SREDA) is a rare benign EEG variant in adults and is of unknown clinical significance. Its occurrence in children is extremely rare. In review of the literature, it has been described in only four children. We present a case of a 10-year-old female with generalized idiopathic childhood absence epilepsy who is noted to have SREDA in three subsequent EEGs performed across a 25-month span. She had no clinical change with these discharges and it was believed to be a benign variant...
August 9, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#16
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28790971/recurrent-epileptic-auras-as-a-presenting-symptom-of-alzheimer-s-disease
#17
Rani A Sarkis, Kim C Willment, Seth A Gale, Barbara A Dworetzky
Seizures are a common co-morbidity during the course of Alzheimer's disease (AD) and in a subset of patients may be one of the presenting symptoms. In this case series, we highlight three patients with recurrent medically refractory epileptic auras whose work up ultimately lead to the diagnosis of AD. All three patients underwent prolonged EEG, serial neuropsychological testing, FDG-PET, cerebrospinal fluid (CSF) AD biomarkers, and MRI. CSF biomarkers were particularly helpful in two cases. These cases highlight the importance of having a high index of suspicion for AD in new onset "idiopathic" epilepsy in the elderly...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28766701/rationale-for-an-adjunctive-therapy-with-fenofibrate-in-pharmacoresistant-nocturnal-frontal-lobe-epilepsy
#18
Monica Puligheddu, Miriam Melis, Giuliano Pillolla, Giulia Milioli, Liborio Parrino, Giovanni Mario Terzano, Sonia Aroni, Claudia Sagheddu, Francesco Marrosu, Marco Pistis, Anna Lisa Muntoni
OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) is an idiopathic partial epilepsy with a family history in about 25% of cases, with autosomal dominant inheritance (autosomal dominant NFLE [ADNFLE]). Traditional antiepileptic drugs are effective in about 55% of patients, whereas the rest remains refractory. One of the key pathogenetic mechanisms is a gain of function of neuronal nicotinic acetylcholine receptors (nAChRs) containing the mutated α4 or β2 subunits. Fenofibrate, a common lipid-regulating drug, is an agonist at peroxisome proliferator-activated receptor alpha (PPARα) that is a ligand-activated transcription factor, which negatively modulates the function of β2-containing nAChR...
August 2, 2017: Epilepsia
https://www.readbyqxmd.com/read/28761347/genetic-and-epigenetic-mechanisms-of-epilepsy-a-review
#19
REVIEW
Tian Chen, Mohan Giri, Zhenyi Xia, Yadu Nanda Subedi, Yan Li
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies have localized multiple loci that may harbor susceptibility genes to epilepsy, and mutational analyses have detected a number of mutations involved in both ion channel and nonion channel genes in patients with idiopathic epilepsy. Genome-wide studies of epilepsy have found copy number variants at 2q24.2-q24.3, 7q11.22, 15q11...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28752060/sleep-onset-uncovers-thalamic-abnormalities-in-patients-with-idiopathic-generalised-epilepsy
#20
Andrew P Bagshaw, Joanne R Hale, Brunno M Campos, David T Rollings, Rebecca S Wilson, Marina K M Alvim, Ana Carolina Coan, Fernando Cendes
The thalamus is crucial for sleep regulation and the pathophysiology of idiopathic generalised epilepsy (IGE), and may serve as the underlying basis for the links between the two. We investigated this using EEG-fMRI and a specific emphasis on the role and functional connectivity (FC) of the thalamus. We defined three types of thalamic FC: thalamocortical, inter-hemispheric thalamic, and intra-hemispheric thalamic. Patients and controls differed in all three measures, and during wakefulness and sleep, indicating disorder-dependent and state-dependent modification of thalamic FC...
2017: NeuroImage: Clinical
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