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https://www.readbyqxmd.com/read/28544889/juvenile-myoclonic-epilepsy-as-a-spectrum-disorder-a-focused-review
#1
REVIEW
Betül Baykan, Peter Wolf
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype...
May 18, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544888/pre-stroke-seizures-a-nationwide-register-based-investigation
#2
Johan Zelano, David Larsson, Eva Kumlien, Signild Åsberg
PURPOSE: The relationship between cerebrovascular disease and seizures is clearly illustrated by poststroke epilepsy. Seizures can also be the first manifestation of cerebrovascular disease and case-control studies have demonstrated that seizures carry an increased risk of subsequent stroke. Thus, seizures could serve as a marker for vascular risk that merits intervention, but more data is needed before proper trials can be conducted. The occurrence of pre-stroke seizures has not been assessed on a national scale...
May 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28544625/a-mutation-in-gabrb3-associated-with-dravet-syndrome
#3
Sy Vinh Le, Phan Hoang Truc Le, Thi Khanh Van Le, Thi Thuy Kieu Huynh, Thi Thu Hang Do
Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70-80% of patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder. In one affected individual, we detected a novel de novo heterozygous missense variant, c...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544168/presurgical-language-fmri-mapping-of-six-critical-regions
#4
Christopher F Benjamin, Patricia D Walshaw, Kayleigh Hale, William D Gaillard, Leslie C Baxter, Madison M Berl, Monika Polczynska, Stephanie Noble, Rafeed Alkawadri, Lawrence J Hirsch, Todd C Constable, Susan Y Bookheimer
Language mapping is a key goal in neurosurgical planning. fMRI mapping typically proceeds with a focus on Broca's and Wernicke's areas, although multiple other language-critical areas are now well-known. We evaluated whether clinicians could use a novel approach, including clinician-driven individualized thresholding, to reliably identify six language regions, including Broca's Area, Wernicke's Area (inferior, superior), Exner's Area, Supplementary Speech Area, Angular Gyrus, and Basal Temporal Language Area...
May 23, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28543780/intranasal-midazolam-versus-rectal-diazepam-for-the-management-of-canine-status-epilepticus-a-multicenter-randomized-parallel-group-clinical-trial
#5
M Charalambous, S F M Bhatti, L Van Ham, S Platt, N D Jeffery, A Tipold, J Siedenburg, H A Volk, D Hasegawa, A Gallucci, G Gandini, M Musteata, E Ives, A E Vanhaesebrouck
BACKGROUND: Intranasal administration of benzodiazepines has shown superiority over rectal administration for terminating emergency epileptic seizures in human trials. No such clinical trials have been performed in dogs. OBJECTIVE: To evaluate the clinical efficacy of intranasal midazolam (IN-MDZ), via a mucosal atomization device, as a first-line management option for canine status epilepticus and compare it to rectal administration of diazepam (R-DZP) for controlling status epilepticus before intravenous access is available...
May 24, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28543354/genotype-phenotype-relationship-in-mucopolysaccharidosis-ii-predictive-power-of-ids-variants-for-the-neuronopathic-phenotype
#6
Audrey A M Vollebregt, Marianne Hoogeveen-Westerveld, Marian A Kroos, Esmee Oussoren, Iris Plug, George J Ruijter, Ans T van der Ploeg, W W M Pim Pijnappel
AIM: Mucopolysaccharidosis type II (MPS II) is caused by variants in the iduronate-2-sulphatase gene (IDS). Patients can be either neuronopathic with intellectual disability, or non-neuronopathic. Few studies have reported on the IDS genotype-phenotype relationship and on the molecular effects involved. We addressed this in a cohort study of Dutch patients with MPS II. METHOD: Intellectual performance was assessed for school performance, behaviour, and intelligence...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28543284/in-utero-oxcarbazepine-exposure-and-neonatal-abstinence-syndrome-case-report-and-brief-review-of-the-literature
#7
Chao-Yang Chen, Xing Li, Ling-Yue Ma, Peng-Hui Wu, Ying Zhou, Qi Feng, Yi-Min Cui
Oxcarbazepine is a second-generation antiepileptic drug that is used to treat partial seizures. Although it has been increasingly used in pregnant women, its fetal safety has not been fully validated. We describe a 12-hour-old neonate who developed neonatal abstinence syndrome (NAS) following intrauterine exposure to oxcarbazepine. The neonate was born by cesarean section to a mother who took oxcarbazepine 300 mg/day for treatment of seizures throughout her pregnancy. Approximately 12 hours after birth, the infant developed paroxysmal jitter, which mainly presented as increased excitability, irritability, limb shaking, and increased muscle tone...
May 20, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28543030/defining-epileptogenic-networks-contribution-of-seeg-and-signal-analysis
#8
REVIEW
Fabrice Bartolomei, Stanislas Lagarde, Fabrice Wendling, Aileen McGonigal, Viktor Jirsa, Maxime Guye, Christian Bénar
Epileptogenic networks are defined by the brain regions involved in the production and propagation of epileptic activities. In this review we describe the historical, methodologic, and conceptual bases of this model in the analysis of electrophysiologic intracerebral recordings. In the context of epilepsy surgery, the determination of cerebral regions producing seizures (i.e., the "epileptogenic zone") is a crucial objective. In contrast with a traditional focal vision of focal drug-resistant epilepsies, the concept of epileptogenic networks has been progressively introduced as a model better able to describe the complexity of seizure dynamics and realistically describe the distribution of epileptogenic anomalies in the brain...
May 20, 2017: Epilepsia
https://www.readbyqxmd.com/read/28542864/circadian-clustering-of-spontaneous-epileptic-seizures-emerges-after-pilocarpine-induced-status-epilepticus
#9
Julika Pitsch, Albert J Becker, Susanne Schoch, Johannes Alexander Müller, Marco de Curtis, Vadym Gnatkovsky
OBJECTIVE: Seizures in mesial temporal lobe epilepsy (MTLE) associated with hippocampal sclerosis are thought to develop with various latency intervals after an initial transient brain insult. To study seizure dynamics after an initial transient precipitating insult in a systematic fashion, we utilized continuous video-electroencephalography (EEG) monitoring after the induction of status epilepticus (SE) in a mouse MTLE model. METHODS: Continuous 24/7 video/telemetric hippocampal EEG recordings in the systemic pilocarpine MTLE mouse model...
May 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/28542801/serum-protein-binding-of-25-antiepileptic-drugs-in-a-routine-clinical-setting-a-comparison-of-free-non-protein-bound-concentrations
#10
Philip N Patsalos, Miguel Zugman, Charlotte Lake, Anthony James, Neville Ratnaraj, Josemir W Sander
OBJECTIVE: Given that only the free non-protein-bound concentration of an antiepileptic drug (AED) crosses the blood-brain barrier, entering the brain and producing an antiepileptic effect, knowledge and measurement of the free drug fraction is important. Such data are sparse, particularly for newer AEDs, and have arisen from the use of disparate methodologies and settings over the past six decades. We report on the protein binding of 25 AEDs that are available for clinical use, along with two pharmacologically active metabolites (carbamazepine-epoxide and N-desmethyl clobazam), using standardized methodology and under set conditions...
May 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/28542738/carbamazepine-and-oxcarbazepine-induced-hyponatremia-in-people-with-epilepsy
#11
Bianca Berghuis, Job van der Palen, Gerrit-Jan de Haan, Dick Lindhout, Bobby P C Koeleman, Josemir W Sander
OBJECTIVE: To ascertain possible determinants of carbamazepine (CBZ)- and oxcarbazepine (OXC)-induced hyponatremia in a large cohort of people with epilepsy. METHODS: We collected data on serum sodium levels in people with epilepsy who were attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L and severe hyponatremia as Na+ ≤128 mEq/L. RESULTS: We identified 1,782 people who had used CBZ (n = 1,424) or OXC (n = 358), of whom 50 were treated with both drugs...
May 24, 2017: Epilepsia
https://www.readbyqxmd.com/read/28542735/sleep-convulsive-seizures-predict-lack-of-remission-in-genetic-generalized-epilepsies-a-retrospective-study-from-a-single-epilepsy-center-in-egypt
#12
A Ashmawi, H Hosny, M Gadallah, E Beghi
BACKGROUND: Genetic generalized epilepsies (GGEs) represent 15-20% of all epilepsies. There are no studies on the outcome of GGEs in the Middle East. AIMS: To investigate the long-term prognosis of GGEs and identify prognostic predictors in Egypt. MATERIAL & METHODS: This is a retrospective cohort study of consecutive children and adults with GGEs seen in an epilepsy clinic in Cairo, Egypt, followed for 10+ years. Follow-up visits were scheduled every 3-6 months or earlier...
May 21, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#13
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28541564/young-people-s-experiences-of-epilepsy-a-scoping-review-of-qualitative-studies
#14
Judith Chew, John Carpenter, Anne M Haase
Research on childhood epilepsy has predominantly used quantitative methodologies to examine the impact of epilepsy on young people and their families. These studies generally give a negative picture of the condition, which is at odds with a strengths-based social work perspective, and provide little understanding of young people's experiences of living with epilepsy. A systematic review of qualitative studies that explored young people's perspectives was conducted. Inclusion criteria were as follows: young people ages 13 to 18 years diagnosed with epilepsy, qualitative data collection methods, studies published in English-language peer-reviewed journals, and gray literature...
May 25, 2017: Health & Social Work
https://www.readbyqxmd.com/read/28541008/protein-losing-enteropathy-as-a-complication-of-the-ketogenic-diet
#15
Won Kee Ahn, Soyoung Park, Heung Dong Kim
The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540848/myoclonic-jerks-are-commonly-associated-with-absence-seizures-in-early-onset-absence-epilepsy
#16
Hala Nasser, Elisa Lopez-Hernandez, Adina Ilea, Neli Le Morvan, Vanina Bellavoine, Catherine Delanoë, Stéphane Auvin
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included...
May 24, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28538339/seven-tesla-mri-of-hippocampal-sclerosis-an-in-vivo-feasibility-study-with-histological-correlations
#17
Harald Stefanits, Elisabeth Springer, Ekaterina Pataraia, Christoph Baumgartner, Johannes A Hainfellner, Daniela Prayer, Christian Weisstanner, Thomas Czech, Siegfried Trattnig
INTRODUCTION: Temporal lobe epilepsy (TLE) is the most frequent form of focal epilepsy in adults. Because approximately half of these patients develop drug resistance, epilepsy surgery designed to remove the epileptogenic zone is an excellent option in selected patients. Histopathological analyses of hippocampal specimens in TLE patients revealed 4 types of Ammon's horn sclerosis, which are correlated with long-term epileptological outcome. The aim of this study was the correlation of noninvasive, high-resolution, morphological magnetic resonance imaging (MRI) at an ultra-high-field (7 T) of the hippocampus in TLE patients with histopathological findings...
May 23, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28538134/trial-of-cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#18
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright
BACKGROUND: The Dravet syndrome is a complex childhood epilepsy disorder that is associated with drug-resistant seizures and a high mortality rate. We studied cannabidiol for the treatment of drug-resistant seizures in the Dravet syndrome. METHODS: In this double-blind, placebo-controlled trial, we randomly assigned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive either cannabidiol oral solution at a dose of 20 mg per kilogram of body weight per day or placebo, in addition to standard antiepileptic treatment...
May 25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28538129/cannabinoids-for-epilepsy-real-data-at-last
#19
EDITORIAL
Samuel F Berkovic
New England Journal of Medicine, Volume 376, Issue 21, Page 2075-2076, May 2017.
May 25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28537461/an-extensive-review-on-development-of-eeg-based-computer-aided-diagnosis-systems-for-epilepsy-detection
#20
Jagriti Saini, Maitreyee Dutta
Epilepsy is considered as fourth most prominent neurological disorder in the world that can affect people of all age groups. Currently, around 65 million people throughout the world are suffering from epilepsy. It is evident that electroencephalograph (EEG) signals are most commonly used for detection of epileptic seizures but today many modern techniques have been developed to analyze underlying features of these EEG signals. As EEG contains a large amount of complicated information, so many researchers are trying to develop automatic systems for complete feature extraction...
May 24, 2017: Network: Computation in Neural Systems
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