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https://www.readbyqxmd.com/read/29681093/low-level-expression-of-epg5-leads-to-an-attenuated-vici-syndrome-phenotype
#1
Megan A Waldrop, Felecia Gumienny, Daniel Boue, Emily de Los Reyes, Richard Shell, Robert B Weiss, Kevin M Flanigan
Vici syndrome is a multisystem disorder characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, cataracts, cardiomyopathy, combined immunodeficiency, failure to thrive, profound developmental delay, and acquired microcephaly. Most individuals are severely affected and have a markedly reduced life span. Here we describe an 8-year-old boy with a history of developmental delay, agenesis of the corpus callosum, failure to thrive, myopathy, and well-controlled epilepsy. He was initially diagnosed with a mitochondrial disorder, based in part upon nonspecific muscle biopsy findings, but mitochondrial DNA mutation analysis revealed no mutations...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29677585/age-at-epilepsy-onset-in-patients-with-focal-cortical-dysplasias-gangliogliomas-and-dysembryoplastic-neuroepithelial-tumours
#2
Attila Rácz, Andreas-Markus Müller, Johannes Schwerdt, Albert Becker, Hartmut Vatter, Christian E Elger
PURPOSE: The age at epilepsy onset in patients with inborn or very early acquired brain lesions depends on the epileptogenic potential of the lesion and the patients' individual "susceptibility" to epileptic seizures. To gain insight into these determinants, we analysed the case history of patients with focal cortical dysplasias (FCDs) and neuroglial tumours. METHODS: In a systematic, retrospective analysis comprised of 233 patients who underwent surgery (116 with FCDs and 117 with neuroglial tumours), we evaluated the age at epilepsy onset according to histopathologic subgroups, lesion location and family history...
April 4, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29674629/genetic-idiopathic-epilepsy-with-photosensitive-seizures-includes-features-of-both-focal-and-generalized-seizures
#3
Jiao Xue, Pan Gong, Haipo Yang, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang, Zhixian Yang
Clinically, some patients having genetic (idiopathic) epilepsy with photosensitive seizures were difficult to be diagnosed. We aimed to discuss whether the genetic (idiopathic) epilepsy with photosensitive seizures is a focal entity, a generalized entity or a continuum. Twenty-two patients with idiopathic epilepsies and photoconvulsive response (PCR) were retrospectively recruited. In the medical records, the seizure types included "generalized tonic-clonic seizures (GTCS)" in 15, "partial secondarily GTCS (PGTCS)" in 3, partial seizures (PS) in 3, myoclonic seizures in 2, eyelid myoclonus in one, and only febrile seizures in one...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29672844/longitudinal-positron-emission-tomography-imaging-of-glial-cell-activation-in-a-mouse-model-of-mesial-temporal-lobe-epilepsy-toward-identification-of-optimal-treatment-windows
#4
Duc-Loc Nguyen, Catriona Wimberley, Charles Truillet, Benoit Jego, Fabien Caillé, Géraldine Pottier, Raphaël Boisgard, Irène Buvat, Viviane Bouilleret
OBJECTIVE: Mesiotemporal lobe epilepsy is the most common type of drug-resistant partial epilepsy, with a specific history that often begins with status epilepticus due to various neurological insults followed by a silent period. During this period, before the first seizure occurs, a specific lesion develops, described as unilateral hippocampal sclerosis (HS). It is still challenging to determine which drugs, administered at which time point, will be most effective during the formation of this epileptic process...
April 19, 2018: Epilepsia
https://www.readbyqxmd.com/read/29670100/structural-basis-of-epilepsy-related-ligand-receptor-complex-lgi1-adam22
#5
Atsushi Yamagata, Yuri Miyazaki, Norihiko Yokoi, Hideki Shigematsu, Yusuke Sato, Sakurako Goto-Ito, Asami Maeda, Teppei Goto, Makoto Sanbo, Masumi Hirabayashi, Mikako Shirouzu, Yuko Fukata, Masaki Fukata, Shuya Fukai
Epilepsy is a common brain disorder throughout history. Epilepsy-related ligand-receptor complex, LGI1-ADAM22, regulates synaptic transmission and has emerged as a determinant of brain excitability, as their mutations and acquired LGI1 autoantibodies cause epileptic disorders in human. Here, we report the crystal structure of human LGI1-ADAM22 complex, revealing a 2:2 heterotetrameric assembly. The hydrophobic pocket of the C-terminal epitempin-repeat (EPTP) domain of LGI1 binds to the metalloprotease-like domain of ADAM22...
April 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29668992/pediatric-temporal-lobe-epilepsy-surgery-in-bonn-and-review-of-the-literature
#6
D Ryan Ormond, Hans Clusmann, Robert Sassen, Christian Hoppe, Christoph Helmstaedter, Johannes Schramm, Alexander Grote
BACKGROUND: Epilepsy surgery is well established as safe and successful for children with temporal lobe epilepsy (TLE). Despite evidence from available data, there remains some reluctance to refer children with medically refractory epilepsy for preoperative evaluation and workup for possible surgery. OBJECTIVE: To present the largest case series of pediatric (TLE) patients thus far, in order to better understand the predictability of preoperative evaluation on seizure outcome, and to better understand longitudinal outcomes in a large pediatric cohort...
April 13, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29665529/electroclinical-characteristics-and-syndromic-associations-of-eye-condition-related-visual-sensitive-epilepsies-a-cross-sectional-study
#7
Kalyani Dilip Karkare, Ramshekhar N Menon, Ashalatha Radhakrishnan, Ajith Cherian, Sanjeev V Thomas
PURPOSE: The systematic study of visual phenomena such as eye closure (ECLS), eye-closed/fixation-off sensitivity (FOS) [terminology proposed as eye-condition sensitive (ECS) epilepsy] distinct from photosensitivity is rarely explored in literature. METHODS: Clinical, electroencephalographic (EEG) and imaging records of patients attending an epilepsy clinic were screened. Inclusion criterion was demonstrable electrographic visual sensitivitiy in the form of ECS parameters with/without photosensitivity...
March 30, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29663531/identification-of-variants-in-the-mitochondrial-lysine-trna-mt-tk-gene-in-myoclonic-epilepsy-pathogenicity-evaluation-and-structural-characterization-by-in-silico-approach
#8
Muhammad S Nadeem, Habib Ahmad, Kaleemuddin Mohammed, Khushi Muhammad, Inam Ullah, Othman A S Baothman, Nasir Ali, Firoz Anwar, Mazin A Zamzami, Abdul Rauf Shakoori
Variations in mitochondrial genes have an established link with myoclonic epilepsy. In the present study we evaluated the nucleotide sequence of MT-TK gene of 52 individuals from 12 unrelated families and reported three variations in 2 of the 13 epileptic patients. The DNA sequences coding for MT-TK gene were sequenced and mutations were detected in all participants. The mutations were further analyzed by the in silico analysis and their structural and pathogenic effects were determined. All the investigated patients had symptoms of myoclonus, 61...
April 16, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29649646/simultaneous-treatment-of-epilepsy-and-secondary-dystonia-after-anterior-temporal-lobectomy-and-amygdalohippocampectomy
#9
Lily Rasouli, Jonathan J Rasouli, Fedor Panov, Ji Yeoun Yoo, Patricia E McGoldrick, Saadi Ghatan
BACKGROUND: The relationship between temporal lobe epilepsy and focal limb dystonia is a well-recognized phenomenon, yet its pathogenesis and anatomical foundation are not well understood. Here, we describe two patients with refractory focal epilepsy and contralateral focal limb dystonia whose seizures and dystonic symptoms simultaneously resolved after anterior temporal lobectomy and amygdalohippocampectomy (ATLAH). CASE DESCRIPTION: We identified two patients within the Mount Sinai Health system with improvement in dystonia after medial temporal lobectomy...
April 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29649013/eeg-patterns-in-patients-with-calcified-neurocysticercosis-with-or-without-hippocampal-atrophy
#10
Naoum P Issa, Mark J Sedler, Victor J Del Brutto, Elizabeth Darsan, Lucía Milla, Jessica Montes, Mauricio Zambrano, Oscar H Del Brutto
PURPOSE: To assess whether hippocampal atrophy develops in conjunction with clinical or subclinical epileptiform or encephalopathic activity in subjects with neurocysticercosis (NCC). METHODS: Using a population-based and nested case-control study design, scalp EEGs and brain MRIs were performed in Atahualpa residents aged ≥40 years, who have imaging-confirmed NCC (case patients), as well as in age- and sex-matched NCC-free control subjects. RESULTS: Sixty-two case patients and 62 control subjects were included...
April 10, 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#11
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29630124/study-of-candidate-gene-chrna4-for-familial-epilepsy-syndrome
#12
N Wang, H-L Huang, H Zhou
OBJECTIVE: To screen a three-generation familial partial epilepsy with variable foci (FPEVF) family with epilepsy to identify the cHRNA4 gene (a candidate gene). PATIENTS AND METHODS: A total of 18 members of the three-generation FPEVF family with partial epilepsy were selected, and 18 blood samples were collected for investigation. Among them, five members were affected by epilepsy, and another 13 members were not affected. A pedigree chart was mapped to comprehensively analyze the clinical characteristics of each member, including ictal semiology, electroencephalogram (EEG), past medical history, MRI features, neuropsychological MMSE (mini-mental state examination) scores, etc...
March 2018: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29628970/acute-kidney-injury-in-pediatric-patients-with-rhabdomyolysis
#13
Young Shin Lim, Heeyeon Cho, Sang Taek Lee, Yeonhee Lee
Purpose: This study aimed to evaluate the clinical findings in pediatric rhabdomyolysis and the predictive factors for acute kidney injury (AKI) in Korean children. Methods: Medical records of 39 Korean children, who were newly diagnosed with rhabdomyolysis from January 2008 to December 2015, were retrospectively analyzed. The diagnosis was made from the medical history, elevated serum creatinine kinase level >1,000 IU/L, and plasma myoglobin level >150 ng/mL...
March 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29625364/usage-of-epifinder-clinical-decision-support-in-the-assessment-of-epilepsy
#14
Erin M Okazaki, Robert Yao, Joseph I Sirven, Amy Z Crepeau, Katherine H Noe, Joseph F Drazkowski, Matthew T Hoerth, Edgar Salinas, Lidia Csernak, Neel Mehta
BACKGROUND: The diagnosis of epilepsy is at times elusive for both neurologists and nonneurologists, resulting in delays in diagnosis and therapy. The development of screening methods has been identified as a priority in response to this diagnostic and therapeutic gap. EpiFinder is a novel clinical decision support tool designed to enhance the process of information gathering and integration of patient/proxy respondent data. It is designed specifically to take key terms from a patient's history and incorporate them into a heuristic algorithm that dynamically produces differential diagnoses of epilepsy syndromes...
April 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29622280/effectiveness-of-total-corpus-callosotomy-for-diffuse-bilateral-polymicrogyria-report-of-three-pediatric-cases
#15
Shimpei Baba, Tohru Okanishi, Mitsuyo Nishimura, Sotaro Kanai, Shinji Itamura, Takayuki Suzuki, Yosuke Masuda, Hideo Enoki, Ayataka Fujimoto
PURPOSE: Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective epileptogenic cortices, has not been established in DBP. Because CC might be effective against DBP-related epilepsy, we conducted total CC in three pediatric DBP cases...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29620008/de-novo-late-onset-absence-status-epilepticus-or-late-onset-idiopathic-generalized-epilepsy-a-case-report-and-systematic-review-of-the-literature
#16
Francesco Brigo, Veronica Tavernelli, Raffaele Nardone, Eugen Trinka
Idiopathic (genetic) generalized epilepsies (IGEs) are age-related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient with de novo late-onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late-onset IGE. We also discuss the relationship between de novo late-onset ASE and late-onset IGE, and provide a comprehensive and critical review of the available literature on late-onset (i.e. onset ≥60 years) IGE...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29610157/clinical-benefit-of-nmda-receptor-antagonists-in-a-patient-with-atp1a2-gene-mutation
#17
Keisuke Ueda, Fatema Serajee, Ahm M Huq
Mutations in the ATP1A2 gene cause familial hemiplegic migraine type 2, alternating hemiplegia of childhood, and cerebellar function deficits, epilepsy, and mental retardation. These symptoms are likely related to glutamatergic hyperexcitability. Our patient is a 12-year-old boy with a history of complex partial seizures, attention-deficit/hyperactivity disorder, and fine motor difficulty. During early childhood, he had episodes of a self-resolving right-sided hemiparesis and focal epilepsy. His seizures did not respond to several antiepileptic medications but stopped after he received valproate...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29607916/-a-nationwide-multi-center-questionnaire-survey-on-the-management-and-treatment-of-post-stroke-seizure-and-epilepsy-in-japan
#18
Kyoko Higashida, Tomotaka Tanaka, Hiroshi Yamagami, Shinya Tomari, Kazuki Fukuma, Yoshinori Okuno, Souichirou Abe, Kazuyuki Nagatsuka, Kazunori Toyoda, Masafumi Ihara
Seizures may occur after stroke. Though the majority of clinicians are aware of this, a consensus-based treatment and management strategy for post-stroke seizures is not available because there have only been a few large-scale studies that have explored this. This study has surveyed the actual state of medical treatment for post-stroke seizure and epilepsy in Japan. We conducted a nationwide questionnaire survey of the top 500 institutions regarding the number of cerebral infarction cases between February 2015 and May 2015...
March 31, 2018: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/29605816/regulation-of-kynurenine-metabolism-by-a-ketogenic-diet
#19
Svenja Heischmann, Lindsey B Gano, Kevin Quinn, Li-Ping Liang, Jacek Klepacki, Uwe Christians, Nichole Reisdorph, Manisha Patel
Ketogenic diets (KDs) are increasingly utilized as treatments for epilepsy, other neurological diseases, and cancer. Despite their long history in suppressing seizures, the distinct molecular mechanisms of action of KDs are still largely unknown. The goal of this study was to identify key metabolites and pathways altered in hippocampus and plasma of rats fed a KD vs. control diet either ad libitum or calorically restricted to 90% of the recommended intake. This was accomplished using a combination of targeted methods and untargeted mass spectrometry-based metabolomics analyses...
March 31, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#20
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
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