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https://www.readbyqxmd.com/read/28817568/an-optimal-strategy-for-epilepsy-surgery-disruption-of-the-rich-club
#1
Marinho A Lopes, Mark P Richardson, Eugenio Abela, Christian Rummel, Kaspar Schindler, Marc Goodfellow, John R Terry
Surgery is a therapeutic option for people with epilepsy whose seizures are not controlled by anti-epilepsy drugs. In pre-surgical planning, an array of data modalities, often including intra-cranial EEG, is used in an attempt to map regions of the brain thought to be crucial for the generation of seizures. These regions are then resected with the hope that the individual is rendered seizure free as a consequence. However, post-operative seizure freedom is currently sub-optimal, suggesting that the pre-surgical assessment may be improved by taking advantage of a mechanistic understanding of seizure generation in large brain networks...
August 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28815955/the-role-of-iqsec2-in-syndromic-intellectual-disability-narrowing-the-diagnostic-odyssey
#2
Benjamin M Helm, Zoe Powis, Carlos E Prada, Olga L Casasbuenas-Alarcon, Tonya Balmakund, G B Schaefer, Stephen G Kahler, Julie Kaylor, Susan Winter, Yuri A Zarate, Samantha A Schrier Vergano
While X-linked intellectual disability (XLID) syndromes pose a diagnostic challenge for clinicians, an increasing number of recognized disorders and their genetic etiologies are providing answers for patients and their families. The availability of clinical exome sequencing is broadening the ability to identify mutations in genes previously unrecognized as causing XLID. In recent years, the IQSEC2 gene, located at Xp11.22, has emerged as the cause of multiple cases of both nonsyndromic and syndromic XLID. Herein we present a case series of six individuals (five males, one female) with intellectual disability and seizures found to have alterations in IQSEC2...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815953/epilepsy-in-fragile-x-syndrome-mimicking-panayiotopoulos-syndrome-description-of-three-patients
#3
Paolo Bonanni, Susanna Casellato, Franco Fabbro, Susanna Negrin
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815576/microrna-and-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis-whole-mirnome-profiling-of-human-hippocampus
#4
Petra Bencurova, Jiri Baloun, Katerina Musilova, Lenka Radova, Boris Tichy, Martin Pail, Martin Zeman, Eva Brichtova, Marketa Hermanova, Sarka Pospisilova, Marek Mraz, Milan Brazdil
OBJECTIVE: Mesial temporal lobe epilepsy (mTLE) is a severe neurological disorder characterized by recurrent seizures. mTLE is frequently accompanied by neurodegeneration in the hippocampus resulting in hippocampal sclerosis (HS), the most common morphological correlate of drug resistance in mTLE patients. Incomplete knowledge of pathological changes in mTLE+HS complicates its therapy. The pathological mechanism underlying mTLE+HS may involve abnormal gene expression regulation, including posttranscriptional networks involving microRNAs (miRNAs)...
August 16, 2017: Epilepsia
https://www.readbyqxmd.com/read/28815309/elimination-of-medically-intractable-epileptic-drop-attacks-following-endoscopic-total-corpus-callosotomy-in-rett-syndrome
#5
Keisuke Ueda, Sandeep Sood, Eishi Asano, Ajay Kumar, Aimee F Luat
INTRODUCTION: Rett syndrome is a neurodevelopmental genetic disorder, characterized by developmental delay, hand stereotypies, abnormal gait, and acquired microcephaly. Epilepsy is very common in Rett syndrome and can be medically intractable. It remains uncertain if a patient with epileptic drop attacks associated with this genetic disease can benefit from corpus callosotomy. CASE REPORT: We report an 8-year-old girl with Rett syndrome and medically intractable epileptic drop attacks who underwent endoscopic total corpus callosotomy without any complications that led to the successful elimination of her seizures...
August 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28815192/epileptic-negative-myoclonus-as-the-first-and-only-symptom-in-a-challenging-diagnosis-of-benign-epilepsy-with-centrotemporal-spikes
#6
Jing Chen, Guo Zheng, Hu Guo, Xiaopeng Lu, Chunfeng Wu, Xiaoyu Wang, Wei Tao
OBJECTIVE: To investigate the clinical and neurophysiological characteristics of epileptic negative myoclonus as the first and only ictal symptom of benign epilepsy with centrotemporal spikes. METHODS: Electrophysiological evaluations included polygraphic recordings with simultaneous video electroencephalogram monitoring and tests performed with patient's upper limb outstretched in standing posture. Epileptic negative myoclonus manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28814872/microrna-expression-profiles-in-chronic-epilepsy-rats-and-neuroprotection-from-seizures-by-targeting-mir-344a
#7
Xixia Liu, Yuhan Liao, Xiuxiu Wang, Donghua Zou, Chun Luo, Chongdong Jian, Yuan Wu
MicroRNA (miRNA) is believed to play a crucial role in the cause and treatment of epilepsy by controlling gene expression. However, it is still unclear how miRNA profiles change after multiple prolonged seizures and aggravation of brain injury in chronic epilepsy (CE). To investigate the role of miRNA in epilepsy, we utilized the CE rat models with pentylenetetrazol (PTZ) and miRNA profiles in the hippocampus. miRNA profiles were characterized using miRNA microarray analysis and were compared with the rats in the sham group, which received 0...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28814836/safety-of-switching-from-brand-name-to-generic-levetiracetam-in-patients-with-epilepsy
#8
Magdalena Bosak, Agnieszka Słowik, Wojciech Turaj
PURPOSE: The approach to the use of generic antiepileptic drugs has recently evolved from major concern to general acceptance, but the evidence related specifically to the safety of switching from brand-name to generic levetiracetam (LEV) is scarce. The aim of the study was to assess the risk of increased frequency of seizures or other adverse events after replacement of a brand-name LEV with a generic one. PATIENTS AND METHODS: This retrospective analysis included 159 patients treated with LEV in a tertiary outpatient epilepsy clinic...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#9
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28812044/monte-carlo-simulations-of-randomized-clinical-trials-in-epilepsy
#10
Daniel M Goldenholz, Joseph Tharayil, Robert Moss, Evan Myers, William H Theodore
BACKGROUND: The placebo response in epilepsy randomized clinical trials (RCTs) has recently been shown to largely reflect underlying natural variability in seizure frequency. Based on this observation, we sought to explore the parameter space of RCT design to optimize trial efficiency and cost. METHODS: We used one of the world's largest patient reported seizure diary databases, SeizureTracker.com to derive virtual patients for simulated RCTs. We ran 1000 randomly generated simulated trials using bootstrapping (sampling with replacement) for each unique combination of trial parameters, sweeping a large set of parameters in durations of the baseline and test periods, number of patients, eligibility criteria, drug effect size, and patient dropout...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28811941/seizure-associated-takotsubo-syndrome-a-rare-combination
#11
Htay Htay Kyi, Nour Aljariri Alhesan, Sunil Upadhaya, Samer Al Hadidi
Takotsubo cardiomyopathy (TC) is increasingly recognized in neurocritical care population especially in postmenopausal females. We are presenting a 61-year-old African American female with past medical history of epilepsy, bipolar disorder, and hypertension who presented with multiple episodes of seizures due to noncompliance with antiepileptic medications. She was on telemetry which showed ST alarm. Electrocardiogram (ECG) was ordered and showed ST elevation in anterolateral leads and troponins were positive...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28811861/importance-of-distinguishing-between-mitochondrial-encephalomyopathy-with-elderly-onset-of-stroke-like-episodes-and-cerebral-infarction
#12
Syuichi Tetsuka, Asako Tagawa, Tomoko Ogawa, Mieko Otsuka, Ritsuo Hashimoto, Hiroyuki Kato
The most common disease-causing mitochondrial DNA (mtDNA) mutation in mitochondrial encephalomyopathy (ME) with lactic acidosis and stroke-like episodes (MELAS) is m.3243A>G. In the future, the incidence of patients with cerebral infarction and diabetes mellitus is expected to increase tremendously. Additionally, the A3243G mutation typical of diabetes is estimated to be present in approximately 2% of all diabetes patients, which suggests that the potential disease population with a mitochondrial disorder is greater than previously thought, and there may have been many cases among the elderly that were misdiagnosed...
September 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28811646/pafah1b1-haploinsufficiency-disrupts-gaba-neurons-and-synaptic-e-i-balance-in-the-dentate-gyrus
#13
Matthew T Dinday, Kelly M Girskis, Sunyoung Lee, Scott C Baraban, Robert F Hunt
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development. Children with this disorder suffer from deficits in neuronal migration, severe intellectual disability, intractable epilepsy and early death. While many of these features can be reproduced in Pafah1b1(+/-) mice, the impact of Pafah1b1(+/-) on the function of individual subpopulations of neurons and ultimately brain circuits is largely unknown...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#14
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28810185/outcome-of-treatment-changes-in-patients-with-drug-resistant-chronic-epilepsy-a-tertiary-center-experience
#15
E Martínez-Lizana, F Gil-Lopez, A Donaire, J Aparicio, A Brandt, M Carreño
BACKGROUND: Previous studies suggest that changing patients' anti-epileptic drug regimen can reduce the frequency of seizures. The approval of new anti-epileptic drugs with different modes of action during the last decades has provided multiple options for the treatment of epilepsy, although the efficacy of these new drugs is controversial. We aimed to determine the effects of adding or changing to a previously untried anti-epileptic drug, including recently approved drugs, on the frequency of seizures in patients with drug-resistant epilepsy...
July 29, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28808783/post-stroke-seizures-are-clinically-underestimated
#16
Carla Bentes, Hugo Martins, Ana Rita Peralta, Carlos Casimiro, Carlos Morgado, Ana Catarina Franco, Ana Catarina Fonseca, Ruth Geraldes, Patrícia Canhão, Teresa Pinho E Melo, Teresa Paiva, José M Ferro
Cerebrovascular disease is the leading cause of epilepsy in adults, although post-stroke seizures reported frequency is variable and few studies used EEG in their identification. To describe and compare EEG and clinical epileptic manifestations frequency in patients with an anterior circulation ischaemic stroke. Prospective study of acute anterior circulation ischaemic stroke patients, consecutively admitted to a Stroke Unit over 24 months and followed-up for 1 year. All patients underwent standardized clinical and diagnostic assessment...
August 14, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28808577/transition-from-intravenous-to-enteral-ketamine-for-treatment-of-nonconvulsive-status-epilepticus
#17
Michael A Pizzi, Prasuna Kamireddi, William O Tatum, Jerry J Shih, Daniel A Jackson, William D Freeman
BACKGROUND: Nonconvulsive status epilepticus (NCSE) is a diagnosis that is often challenging and one that may progress to refractory NCSE. Ketamine is a noncompetitive N-methyl-d-aspartate antagonist that increasingly has been used to treat refractory status epilepticus. Current Neurocritical Care Society guidelines recommend intravenous (IV) ketamine infusion as an alternative treatment for refractory status epilepticus in adults. On the other hand, enteral ketamine use in NCSE has been reported in only 6 cases (1 adult and 5 pediatric) in the literature to date...
2017: Journal of Intensive Care
https://www.readbyqxmd.com/read/28807787/trigeminal-nerve-stimulation-induces-fos-immunoreactivity-in-selected-brain-regions-increases-hippocampal-cell-proliferation-and-reduces-seizure-severity-in-rats
#18
Beniamina Mercante, Paolo Enrico, Gabriele Floris, Marina Quartu, Marianna Boi, Maria Pina Serra, Paolo Follesa, Franca Deriu
Sites and mechanisms by which trigeminal nerve stimulation (TNS) exerts beneficial effects on symptoms of drug-resistant epilepsy and depression are still unknown. Effects of short-term TNS on brain regions involved in the physiopathology of these disorders were investigated in this study. Forty male rats were assigned to 3 groups: TNS (undergoing electrical stimulation of the left infraorbitary nerve via surgically implanted cuff electrodes); Sham (undergoing surgical procedure but without a stimulation); Naïve rats...
August 11, 2017: Neuroscience
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#19
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807642/alterations-of-apoptosis-and-autophagy-in-developing-brain-of-rats-with-epilepsy-changes-in-lc3-p62-beclin-1-and-bcl-2-levels
#20
Qinrui Li, Ying Han, Junbao Du, Hongfang Jin, Jing Zhang, Manman Niu, Jiong Qin
Current studies have indicated that apoptotic and autophagic signaling pathways are triggered by epileptic seizures, but the precise roles of these processes in epilepsy-induced neuronal loss remain unclear. Identifying a concrete molecular mechanism may help researchers develop relevant epilepsy therapies that are more effective than existing treatments. Autophagy is a type of conserved degradation that contributes to cellular homeostasis. The involved signaling pathways allow us to observe alterations in autophagy and apoptosis during epileptic seizures over time...
August 11, 2017: Neuroscience Research
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