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idiopathic epilepsy

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https://www.readbyqxmd.com/read/28209769/seizures-in-children-with-cerebral-palsy-and-white-matter-injury
#1
Monica S Cooper, Mark T Mackay, Michael Fahey, Dinah Reddihough, Susan M Reid, Katrina Williams, A Simon Harvey
OBJECTIVE: The goal of this study was to describe the prevalence, syndromes, and evolution of seizure disorders in children with cerebral palsy (CP) due to white matter injury (WMI). METHODS: For this population-based cohort study, brain MRI scans and medical records were reviewed in children in the Victorian Cerebral Palsy Register born between 1999 and 2006 recorded as having WMI. Children were excluded if they had features of an undiagnosed syndrome, associated cortical malformation or injury, or no medical contact in the preceding year...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28209153/a-prospective-observational-longitudinal-study-of-new-onset-seizures-and-newly-diagnosed-epilepsy-in-dogs
#2
N Fredsø, N Toft, A Sabers, M Berendt
BACKGROUND: Seizures are common in dogs and can be caused by non-epileptic conditions or epilepsy. The clinical course of newly diagnosed epilepsy is sparsely documented. The objective of this study was to prospectively investigate causes for seizures (epileptic and non-epileptic) in a cohort of dogs with new-onset untreated seizures, and for those dogs with newly diagnosed epilepsy to investigate epilepsy type, seizure type and the course of disease over time, including the risk of seizure recurrence...
February 16, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28190495/phenobarbital-or-potassium-bromide-as-an-add-on-antiepileptic-drug-for-the-management-of-canine-idiopathic-epilepsy-refractory-to-imepitoin
#3
E Royaux, L Van Ham, B J G Broeckx, I Van Soens, I Gielen, D Deforce, S F M Bhatti
Imepitoin has recently been approved in Europe for the management of dogs with idiopathic epilepsy. Currently, there is no evidence-based information available on the efficacy of antiepileptic drugs used as additions to the therapeutic regimen in dogs with idiopathic epilepsy that are not well controlled with imepitoin. The goal of this study was to evaluate the efficacy of phenobarbital or potassium bromide (KBr) as add-on antiepileptic drugs for controlling dogs refractory to a maximum dose of imepitoin (30 mg/kg twice daily)...
February 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28182669/a-de-novo-loss-of-function-grin2a-mutation-associated-with-childhood-focal-epilepsy-and-acquired-epileptic-aphasia
#4
Kai Gao, Anel Tankovic, Yujia Zhang, Hirofumi Kusumoto, Jin Zhang, Wenjuan Chen, Wenshu XiangWei, Gil H Shaulsky, Chun Hu, Stephen F Traynelis, Hongjie Yuan, Yuwu Jiang
OBJECTIVE: N-methyl-D-aspartate receptors (NMDAR) subunit GRIN2A/GluN2A mutations have been identified in patients with various neurological diseases, such as epilepsy and intellectual disability / developmental delay (ID/DD). In this study, we investigated the phenotype and underlying molecular mechanism of a GRIN2A missense mutation identified by next generation sequencing on idiopathic focal epilepsy using in vitro electrophysiology. METHODS: Genomic DNA of patients with epilepsy and ID/DD were sequenced by targeted next-generation sequencing within 300 genes related to epilepsy and ID/DD...
2017: PloS One
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#5
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
January 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28143391/adam23-is-a-common-risk-gene-for-canine-idiopathic-epilepsy
#6
Lotta L E Koskinen, Eija H Seppälä, Jutta Weissl, Tarja S Jokinen, Ranno Viitmaa, Reetta L Hänninen, Pascale Quignon, Andrea Fischer, Catherine André, Hannes Lohi
BACKGROUND: Idiopathic or genetic adult-onset epilepsy is a common neurological disorder in domestic dogs. Genetic association has been reported only with ADAM23 on CFA 37 in few breeds. To identify novel epilepsy genes, we performed genome-wide association (GWA) analyses in four new breeds, and investigated the association of the previously reported ADAM23 haplotype with the epilepsy phenotype in eight breeds. RESULTS: GWA analysis did not reveal new epilepsy loci...
January 31, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28118828/clinical-evaluation-of-a-combination-therapy-of-imepitoin-with-phenobarbital-in-dogs-with-refractory-idiopathic-epilepsy
#7
Jasmin Neßler, Chris Rundfeldt, Wolfgang Löscher, Draginja Kostic, Thomas Keefe, Andrea Tipold
BACKGROUND: Imepitoin was tested as a combination treatment with phenobarbital in an open-label mono-centre cohort study in dogs with drug-resistant epilepsy. Diagnosis of idiopathic epilepsy was based on clinical findings, magnetic resonance imaging and cerebrospinal fluid analysis. Three cohorts were treated. In cohort A, dogs not responding to phenobarbital with or without established add-on treatment of potassium bromide or levetiracetam were treated add-on with imepitoin, starting at 10 mg/kg BID, with titration allowed to 30 mg/kg BID...
January 25, 2017: BMC Veterinary Research
https://www.readbyqxmd.com/read/28101769/childhood-absence-epilepsy-and-benign-epilepsy-with-centro-temporal-spikes-a-narrative-review-analysis
#8
REVIEW
Alberto Verrotti, Renato D'Alonzo, Victoria Elisa Rinaldi, Sara Casciato, Alfredo D'Aniello, Giancarlo Di Gennaro
BACKGROUND: Recent studies have shown a possible coexistence of absence seizures with other forms of epilepsy. The purpose of this study was to ascertain the possible contemporary or subsequent presence of childhood absence epilepsy (CAE) and benign epilepsy with centro-temporal spikes (BECTS) in pediatric epileptic patients. METHODS: A PubMed systematic search indexed for MEDLINE, PubMed and EMBASE was undertaken to identify studies in children including articles written between 1996 and 2015...
January 19, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28088035/diagnosis-treatment-and-outcomes-of-infantile-spasms-in-the-trisomy-21-population
#9
Christopher W Beatty, Joanna E Wrede, Heidi K Blume
PURPOSE: To determine if there are differences in the timing of diagnosis and response to treatment between infants with infantile spasms (IS) and Trisomy 21 (T21) and those with idiopathic IS. METHOD: This was a retrospective study evaluating the time from onset of IS to diagnosis, treatment of IS, time from treatment to resolution of IS, and development of epilepsy in children with T21 and IS compared to children with idiopathic IS. RESULTS: Thirteen children with T21 and IS were identified over a 10 year period and compared to 32 children in the control group...
December 23, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28074997/-classification-of-idiopathic-generalised-epilepsies-in-patients-over-16-years-of-age
#10
J Sala-Padro, M Toledo, E Santamarina, M Gonzalez-Cuevas, M Raspall-Chaure, M Sueiras-Gil, M Quintana, J Salas-Puig
INTRODUCTION: Idiopathic generalised epilepsies (IGE) are a set of electroclinical syndromes with different phenotypes. Our aim is to analyse those phenotypes in patients over 16 years of age. PATIENTS AND METHODS: We conducted a retrospective analysis of a series of patients with IGE. They were classified as childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), epilepsy with tonic-clonic seizures only (TCSE), epilepsy with eyelid myoclonias and absences (EMA) and pure photogenic epilepsy (PE)...
January 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28072588/fertility-treatment-and-childhood-epilepsy-a-nationwide-cohort-study
#11
Laura Ozer Kettner, Ulrik Schiøler Kesmodel, Cecilia Høst Ramlau-Hansen, Bjørn Bay, Beate Ritz, Niels Bjerregaard Matthiesen, Tine Brink Henriksen
BACKGROUND: Fertility treatment includes hormonal stimulation of the woman and in vitro manipulation of gametes and embryos that may influence prenatal brain development. We aimed to investigate the association between fertility treatment and childhood epilepsy, including specific types of treatment and indications as well as subtypes of epilepsy. METHODS: In this nationwide birth cohort study, we included all pregnancies in Denmark resulting in live-born singletons, 1995-2003...
January 6, 2017: Epidemiology
https://www.readbyqxmd.com/read/28067060/update-on-pharmacotherapy-of-myoclonic-seizures
#12
Pasquale Striano, Vincenzo Belcastro
Myoclonic seizures are brief, involuntary muscular jerks arising from the central nervous system that can occur in different epilepsy syndromes, including idiopathic generalized epilepsies or the most severe group of epileptic encephalopathies. Valproate is commonly the first choice alone or in combination with some benzodiazepines or levetiracetam. However, more treatment options exist today as there is emerging evidence to support the efficacy of some newer antiepileptic drugs. In addition, of major importance remains avoidance of medications (e...
February 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28062844/phenobarbital-administration-every-eight-hours-improvement-of-seizure-management-in-idiopathic-epileptic-dogs-with-decreased-phenobarbital-elimination-half-life
#13
F Stabile, C R Barnett, L De Risio
Estimated prevalence of canine idiopathic epilepsy is 0.6 per cent in the first-opinion canine population in the UK. Phenobarbital monotherapy has been reported to reduce/eradicate seizure activity in 60-93 per cent of idiopathic epileptic dogs (IEDs). The objective of this study was to evaluate safety and efficacy of the administration of phenobarbital orally every eight hours in IEDs with phenobarbital elimination half-life less than 20 hours. Medical records of 10 IEDs in which steady state trough serum phenobarbital levels were within the reference range and phenobarbital elimination half-life had become less than 20 hours following prolonged administration every 12 hours were reviewed...
January 6, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28060866/patterns-of-gray-matter-abnormalities-in-idiopathic-generalized-epilepsy-a-meta-analysis-of-voxel-based-morphology-studies
#14
Guo Bin, Tianfu Wang, Hongwu Zeng, Xiaoming He, Feng Li, Jian Zhang, Bingsheng Huang
OBJECTIVE: We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. METHODS: A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted...
2017: PloS One
https://www.readbyqxmd.com/read/28056389/altered-visual-contrast-gain-control-is-sensitive-for-idiopathic-generalized-epilepsies
#15
Daehan Won, Wonsuk Kim, W Art Chaovalitwongse, Jeffrey J Tsai
OBJECTIVE: Visual hyperexcitability in the form of abnormal contrast gain control has been shown in photosensitive epilepsy and idiopathic generalized epilepsies. We assessed the accuracy and reliability of measures of visual contrast gain control in discerning individuals with idiopathic generalized epilepsies from healthy controls. METHODS: Twenty-four adult patients with idiopathic generalized epilepsy and 32 neurotypical control subjects from two study sites participated in a prospective, cross-sectional study...
February 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28043066/thalamic-hypoperfusion-and-disrupted-cerebral-blood-flow-networks-in-idiopathic-generalized-epilepsy-arterial-spin-labeling-and-graph-theoretical-analysis
#16
Daichi Sone, Masako Watanabe, Miho Ota, Yukio Kimura, Atsuhiko Sugiyama, Tomoko Maekawa, Mariko Okura, Mikako Enokizono, Etsuko Imabayashi, Noriko Sato, Hiroshi Matsuda
PURPOSE: The aim of this study was to investigate interictal cerebral blood flow (CBF) distributions and graph theoretical networks in idiopathic generalized epilepsy (IGE) using arterial spin labeling (ASL) imaging and anatomical covariance methods of graph theoretical analysis. MATERIAL AND METHODS: We recruited 19 patients with IGE and 19 age-/gender-matched healthy controls. Their CBF images were obtained by pseudo-continuous ASL imaging and compared using statistical parametric mapping 8 software (SPM8) and Graph Analysis Toolbox (GAT)...
December 14, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/28030998/the-role-of-thalamus-versus-cortex-in-epilepsy-evidence-from-human-ictal-centromedian-recordings-in-patients-assessed-for-deep-brain-stimulation
#17
David Martín-López, Diego Jiménez-Jiménez, Lidia Cabañés-Martínez, Richard P Selway, Antonio Valentín, Gonzalo Alarcón
BACKGROUND: The onset of generalized seizures is a long debated subject in epilepsy. The relative roles of cortex and thalamus in initiating and maintaining the different seizure types are unclear. OBJECTIVE: The purpose of the study is to estimate whether the cortex or the centromedian thalamic nucleus is leading in initiating and maintaining seizures in humans. METHODS: We report human ictal recordings with simultaneous thalamic and cortical electrodes from three patients without anesthesia being assessed for deep brain stimulation (DBS)...
October 24, 2016: International Journal of Neural Systems
https://www.readbyqxmd.com/read/28030918/to-treat-or-not-to-treat-drug-refractory-epilepsy-by-the-ketogenic-diet-that-is-the-question
#18
REVIEW
Marzena Ułamek-Kozioł, Ryszard Pluta, Anna Bogucka-Kocka, Stanisław J Czuczwar
Epilepsy is a serious neurologic disorder worldwide which affects about 1% of the population (ca. 50 million people), the highest prevalence occurring in both children and elderly. Apart from idiopathic forms, etiology of the disease involves multiple brain risk factors - the most frequent being cerebrovascular diseases, tumours and traumatic injuries. Several treatment options exist, including, for instance, pharmacotherapy, vagal nerve stimulation or epilepsy surgery. In spite of treatment, about 30% of patients with epilepsy still have seizures and become drug-refractory...
23, 2016: Annals of Agricultural and Environmental Medicine: AAEM
https://www.readbyqxmd.com/read/28008202/investigation-of-single-nucleotide-variants-in-mbd5-associated-with-autism-spectrum-disorders-and-schizophrenia-phenotypes
#19
Kanako Ishizuka, Hiroki Kimura, Akira Yoshimi, Masahiro Banno, Itaru Kushima, Yota Uno, Takashi Okada, Daisuke Mori, Branko Aleksic, Norio Ozaki
MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurodevelopmental features, particularly features with late onset, has not been fully explored. In this study, we conducted exon-targeted resequencing of MBD5 with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic ASD and 370 with schizophrenia (SCZ)) and detected 16 MBD5 SNVs with allele frequencies of ≤1%...
December 2016: Nagoya Journal of Medical Science
https://www.readbyqxmd.com/read/28005050/-genetics-and-treatment-of-early-infantile-epileptic-encephalopathies
#20
A A Sharkov, I V Sharkova, E D Belousova, E L Dadali
Epileptic encephalopathies (EE) are the group of progressive conditions with various etiologies that can produce neurocognitive deficit both per se and due to constant epileptiform discharges. Epileptic encephalopathies constitute about 15% of epilepsy in childhood and 40% of all seizures occurring in the first 3 years of life. Ten syndrome forms of EE are identified. Genetic factors contribute to 70-80% of all epileptic diseases and approximately 40% of idiopathic epilepsies have a monogenic mode of inheritance...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
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