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New onset epilepsy

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https://www.readbyqxmd.com/read/29150855/thalamic-volume-reduction-in-drug-naive-patients-with-new-onset-genetic-generalized-epilepsy
#1
Suejen Perani, Tim M Tierney, Maria Centeno, Elhum A Shamshiri, Siti N Yaakub, Jonathan O'Muircheartaigh, David W Carmichael, Mark P Richardson
OBJECTIVE: Patients with genetic generalized epilepsy (GGE) have subtle morphologic abnormalities of the brain revealed with magnetic resonance imaging (MRI), particularly in the thalamus. However, it is unclear whether morphologic abnormalities of the brain in GGE are a consequence of repeated seizures over the duration of the disease, or are a consequence of treatment with antiepileptic drugs (AEDs), or are independent of these factors. Therefore, we measured brain morphometry in a cohort of AED-naive patients with GGE at disease onset...
November 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/29141310/-analysis-of-gene-mutation-of-early-onset-epileptic-spasm-with-unknown-reason
#2
X Yang, G Pan, W H Li, L M Zhang, B B Wu, H J Wang, P Zhang, S Z Zhou
Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29130506/animal-models-of-acquired-epilepsy-insights-into-mechanisms-of-human-epileptogenesis
#3
Albert J Becker
In many patients who suffer from epilepsies, recurrent epileptic seizures do not start at birth but develop later in life. This holds particularly true for epilepsies with a focal seizure origin including focal cortical dysplasias (FCDs) and temporal lobe epilepsy (TLE). TLE most frequently has its seizure onset in the hippocampal formation. Hippocampal biopsies of pharmacoresistant TLE patients undergoing epilepsy surgery for seizure control most frequently reveal the damage pattern of hippocampal sclerosis, i...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29114859/antiepileptic-drug-behavioral-side-effects-and-baseline-hyperactivity-in-children-and-adolescents-with-new-onset-epilepsy
#4
Shanna M Guilfoyle, Katherine Follansbee-Junger, Aimee W Smith, Angela Combs, Shannon Ollier, Brooke Hater, Avani C Modi
OBJECTIVE: To examine baseline psychological functioning and antiepileptic drug (AED) behavioral side effects in new onset epilepsy and determine, by age, whether baseline psychological functioning predicts AED behavioral side effects 1 month following AED initiation. METHODS: A retrospective chart review was conducted between July 2011 and December 2014 that included youths with new onset epilepsy. As part of routine interdisciplinary care, caregivers completed the Behavior Assessment System for Children, 2nd Edition: Parent Rating Scale to report on baseline psychological functioning at the diagnostic visit and the Pediatric Epilepsy Side Effects Questionnaire to identify AED behavioral side effects at the 1-month follow-up clinic visit following AED initiation...
November 8, 2017: Epilepsia
https://www.readbyqxmd.com/read/29105055/the-impact-of-hypsarrhythmia-on-infantile-spasms-treatment-response-observational-cohort-study-from-the-national-infantile-spasms-consortium
#5
Scott T Demarest, Renée A Shellhaas, William D Gaillard, Cynthia Keator, Katherine C Nickels, Shaun A Hussain, Tobias Loddenkemper, Anup D Patel, Russell P Saneto, Elaine Wirrell, Iván Sánchez Fernández, Catherine J Chu, Zachary Grinspan, Courtney J Wusthoff, Sucheta Joshi, Ismail S Mohamed, Carl E Stafstrom, Cynthia V Stack, Elissa Yozawitz, Judith S Bluvstein, Rani K Singh, Kelly G Knupp
OBJECTIVE: The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia. METHODS: Patients aged 2 months to 2 years were enrolled prospectively with new-onset infantile spasms. Treatment choice and categorization of hypsarrhythmia were determined clinically at each site. Response to therapy was defined as resolution of clinical spasms (and hypsarrhythmia if present) without relapse 3 months after initiation...
November 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/29090338/mutations-of-ptpn23-in-developmental-and-epileptic-encephalopathy
#6
Nadine Sowada, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T Arold, Harald Bode, Fowzan S Alkuraya, Guntram Borck
Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death...
October 31, 2017: Human Genetics
https://www.readbyqxmd.com/read/29076473/-the-management-of-patients-with-new-epileptic-seizures-in-the-early-period-after-resection-of-hemispheric-tumors-two-case-reports-and-a-literature-review
#7
E Yu Sokolova, I A Savin, A B Kadasheva, A V Gavryushin, D I Pitskhelauri, A V Kozlov, K N Lapteva, V V Podlepich
Epileptic seizures developing for the first time after a neurosurgical intervention (de novo seizures) are a challenge for choosing an optimal treatment. The pathogenesis of these seizures is often associated with factors that become inactive in the early postoperative period. These seizures can not serve the basis for diagnosing symptomatic epilepsy and should be regarded as a brain response to surgery, and patients do not need anticonvulsant therapy that reduces the quality of life. But in some situations, new early postoperative seizures serve the onset of symptomatic epilepsy and require prolonged anticonvulsant therapy...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/29069823/microrna-134-plasma-levels-before-and-after-treatment-with-valproic-acid-for-epilepsy-patients
#8
Xiaofeng Wang, Yifeng Luo, Shuangxi Liu, Liming Tan, Sanhu Wang, Rongyong Man
BACKGROUND: Temporal lobe epilepsy is the second most common neurological disorders characterized by recurrent spontaneous seizures. MicroRNAs play a vital role in regulating synaptic plasticity, brain development and post-transcriptional expression of proteins. In both animal models of epilepsy and human patients, miR-134, a brain-specific microRNA has recently been identified as a potential regulator of epileptogenesis. METHODS: microRNA identified as targets for the actions of valproic acid (VPA) are known to have important effects in brain function...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29066376/a-de-novo-mutation-in-rpl10-causes-a-rare-x-linked-ribosomopathy-characterized-by-syndromic-intellectual-disability-and-epilepsy-a-new-case-and-review-of-the-literature
#9
Danielle K Bourque, Taila Hartley, Sarah M Nikkel, Daniela Pohl, Martine Tétreault, Kristin D Kernohan, David A Dyment
Intellectual disability (ID) affects 1-2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogenic forms of ID. Here we present an 18 year old male with severe ID, absent speech, microcephaly, ataxia, dysmorphic facial features, and a refractory, early-onset seizure disorder. Exome sequencing revealed a rare de novo mutation in the X-linked gene RPL10 (c.232A > G, p...
October 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29061684/teaching-neuroimages-new-onset-focal-epilepsy-the-curious-case-of-the-camel-and-the-jawbone
#10
James D Triplett, Nicholas Lawn, Rob Edis
No abstract text is available yet for this article.
October 24, 2017: Neurology
https://www.readbyqxmd.com/read/29061647/pyridoxine-dependent-epilepsy-in-zebrafish-caused-by-aldh7a1-deficiency
#11
Izabella A Pena, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon Johnstone, Hellen Weinschutz Mendes, Marjolein Bosma, Vishal Saxena, Nathalie Lepage, Pranesh Chakraborty, David A Dyment, Clara D M van Karnebeek, Nanda Verhoeven-Duif, Tuan Vu Bui, Kym M Boycott, Marc Ekker, Alex MacKenzie
Pyridoxine-dependent epilepsy (PDE) is a rare disease characterized by mutations in the lysine degradation gene ALDH7A1 leading to recurrent neonatal seizures which are uniquely alleviated by high doses of pyridoxine or pyridoxal 5'-phosphate (vitamin B6 vitamers). Despite treatment, neurodevelopmental disabilities are still observed in most PDE patients underlining the need for adjunct therapies. Over 60 years after the initial description of PDE, we report the first animal model for this disease: an aldh7a1-null zebrafish (Danio rerio) displaying deficient lysine metabolism and spontaneous and recurrent seizures in the larval stage (10 dpf)...
October 23, 2017: Genetics
https://www.readbyqxmd.com/read/29051738/early-seizure-detection-based-on-cardiac-autonomic-regulation-dynamics
#12
Jonatas Pavei, Renan G Heinzen, Barbora Novakova, Roger Walz, Andrey J Serra, Markus Reuber, Athi Ponnusamy, Jefferson L B Marques
Epilepsy is a neurological disorder that causes changes in the autonomic nervous system. Heart rate variability (HRV) reflects the regulation of cardiac activity and autonomic nervous system tone. The early detection of epileptic seizures could foster the use of new treatment approaches. This study presents a new methodology for the prediction of epileptic seizures using HRV signals. Eigendecomposition of HRV parameter covariance matrices was used to create an input for a support vector machine (SVM)-based classifier...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#13
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29042524/-autoimmune-and-epilepsy
#14
Riki Matsumoto, Mitsuhiro Sakamoto, Akio Ikeda
The recent discovery of autoimmune antibodies to the neuronal cell surface membrane and extra- or intra-cellular proteins, such as NMDAR and LGI1, shed light on a proposed new etiology of epilepsy, namely, "autoimmune epilepsy". A large part of this entity most likely belongs to a forme fruste of autoimmune (limbic) encephalitis. Seizures are usually subacute in onset and refractory to antiepileptic medications. Patients occasionally manifest multiple seizure semiologies, such as autonomic or faciobrachial dystonic seizures...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29018404/socioeconomic-outcome-and-quality-of-life-in-adults-after-status-epilepticus-a-multicenter-longitudinal-matched-case-control-analysis-from-germany
#15
Lena-Marie Kortland, Susanne Knake, Felix von Podewils, Felix Rosenow, Adam Strzelczyk
BACKGROUND: There is a lack of data concerning socioeconomic outcome and quality of life (QoL) in patients after status epilepticus (SE) in Germany. PATIENTS AND METHODS: Adult patients treated between 2011 and 2015 due to SE at the university hospitals in Frankfurt, Greifswald, and Marburg were asked to fill out a questionnaire regarding long-term outcome of at least 3 months after discharge. The SE cohort consisted of 25.9% patients with an acute symptomatic, 42% with a remote symptomatic and previous epilepsy, 22...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28993242/a-distinct-microrna-expression-profile-is-associated-with-%C3%AE-11-c-methyl-l-tryptophan-amt-pet-uptake-in-epileptogenic-cortical-tubers-resected-from-patients-with-tuberous-sclerosis-complex
#16
Shruti Bagla, Daniela Cukovic, Eishi Asano, Sandeep Sood, Aimee Luat, Harry T Chugani, Diane C Chugani, Alan A Dombkowski
Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. TSC mutations lead to a range of neurological manifestations including epilepsy, cognitive impairment, autism spectrum disorders (ASD), and brain lesions that include cortical tubers. There is evidence that seizures arise at or near cortical tubers, but it is unknown why some tubers are epileptogenic while others are not. We have previously reported increased tryptophan metabolism measured with α[(11)C]-methyl-l-tryptophan (AMT) positron emission tomography (PET) in epileptogenic tubers in approximately two-thirds of patients with tuberous sclerosis and intractable epilepsy...
October 7, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28979539/co-trimoxazole-induced-hypoglycaemia-in-an-immunosuppressed-intensive-care-patient
#17
Katherine A Richards, Simon Raby
An 18-year-old female inpatient on a neurosciences intensive care unitwith new onset super-refractory epilepsy became hypoglycaemic 48 h after commencing co-trimoxazole. She had been placed on this for prophylaxis against Pneumocystis jiroveci infection in the context of significant immunosuppression with high-dose corticosteroid therapy. In order to maintain glucose control, she required a continuous infusion of 10% dextrose at rates of 15-25 ml/h. Recurrent attempts to wean this were limited by further hypoglycaemia, until she spontaneously regained normoglycaemia after 73 days...
February 2017: J Intensive Care Soc
https://www.readbyqxmd.com/read/28974152/encephalitis-with-antibodies-against-the-gabab-receptor-seizures-as-the-most-common-presentation-at-admission
#18
Xueping Chen, Fan Liu, Jin-Mei Li, Xiao-Qi Xie, Qiong Wang, Dong Zhou, Huifang Shang
OBJECTIVE: Autoimmune encephalitis associated with antibodies against gamma-aminobutyric-acid B receptor (GABABR) has not been described in detail in Chinese patients. METHODS: Patients with anti-GABABR encephalitis treated between January 2013 and December 2015 were analyzed in terms of clinical characteristics, laboratory findings, tumor presence, autoantibody patterns, treatment response and outcomes. RESULTS: Eleven patients were identified (male, N = 8; female, N = 3), with the median age of 51 years...
November 2017: Neurological Research
https://www.readbyqxmd.com/read/28961938/implantation-of-depth-electrodes-in-children-using-varioguide%C3%A2-frameless-navigation-system-technical-note
#19
Marcelo Budke, Josue M Avecillas-Chasin, Francisco Villarejo
BACKGROUND: Electrode placement in epilepsy surgery seeks to locate the sites of ictal onset and early propagation. An invasive diagnostic procedure, stereoelectroencephalography (SEEG) is usually implemented with frame-based methods that can be especially problematic in young children. OBJECTIVE: To evaluate the feasibility and accuracy of a new technique for frameless SEEG in children using the VarioGuide® system (Brainlab AG, München, Germany). METHODS: A frameless stereotactic navigation system was used to implant depth electrodes with percutaneous drilling and bolt insertion in pediatric patients with medically refractory epilepsy...
September 9, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28959217/attention-contributes-to-arithmetic-deficits-in-new-onset-childhood-absence-epilepsy
#20
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Qian Chen
Neuropsychological studies indicate that new-onset childhood absence epilepsy (CAE) is associated with deficits in attention and executive functioning. However, the contribution of these deficits to impaired academic performance remains unclear. We aimed to examine whether attention and executive functioning deficits account for the academic difficulties prevalent in patients with new-onset CAE. We analyzed cognitive performance in several domains, including language, mathematics, psychomotor speed, spatial ability, memory, general intelligence, attention, and executive functioning, in 35 children with new-onset CAE and 33 control participants...
2017: Frontiers in Psychiatry
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