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https://www.readbyqxmd.com/read/28100327/-intermittent-convulsions-for-1-5-years-and-psychomotor-retardation-in-a-girl
#1
Li Yang, Yu-Fen Li, Li-Yun Xu, Na Xu, Yu-Zeng Han, Jun-Lin Wang, Ji-Guo Song, Ying Hua, Li-Ping Zhu
The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#2
REVIEW
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano
Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28089286/historical-perspective-on-the-medical-use-of-cannabis-for-epilepsy-ancient-times-to-the-1980s
#3
REVIEW
Daniel Friedman, Joseph I Sirven
There has been a dramatic surge in the interest of utilizing cannabis for epilepsy treatment in the US. Yet, access to cannabis for research and therapy is mired in conflicting regulatory policies and shifting public opinion. Understanding the current state of affairs in the medical cannabis debate requires an examination of the history of medical cannabis use. From ancient Chinese pharmacopeias to the current Phase III trials of pharmaceutical grade cannabidiol, this review covers the time span of cannabis use for epilepsy therapy so as to better assess the issues surrounding the modern medical opinion of cannabis use...
January 11, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28087826/comparison-of-brain-mri-findings-with-language-and-motor-function-in-the-dystroglycanopathies
#4
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Anne M Wallace, Julia A Collison, M Bridget Zimmerman, William B Dobyns, Katherine D Mathews
OBJECTIVE: To describe the spectrum of brain MRI findings in a cohort of individuals with dystroglycanopathies (DGs) and relate MRI results to function. METHODS: All available brain MRIs done for clinical indications on individuals enrolled in a DG natural history study (NCT00313677) were reviewed. Reports were reviewed when MRI was not available. MRIs were categorized as follows: (1) cortical, brainstem, and cerebellar malformations; (2) cortical and cerebellar malformations; or (3) normal...
January 13, 2017: Neurology
https://www.readbyqxmd.com/read/28087392/predictors-and-mechanisms-of-epilepsy-occurrence-in-cerebral-gliomas-what-to-look-for-in-clinicopathology
#5
Cheng Huang, Xiao-Sa Chi, Xin Hu, Ni Chen, Qiao Zhou, Dong Zhou, Jin-Mei Li
Gliomas, especially low-grade gliomas, are highly epileptogenic brain tumors. Histopathological information is valuable in evaluating the diagnosis and/or biologic behavior of various gliomas. Here we explored the clinical data and histopathological predictors of the occurrence of epilepsy in patients with gliomas. A retrospective study examined 310 consecutive patients who had undergone surgical treatment for gliomas in our institution from January 2013 to January 2015. Clinical data and pathological examination results were analyzed...
January 11, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28087260/seizure-recurrence-in-children-after-stopping-antiepileptic-medication-5-year-follow-up
#6
Inn-Chi Lee, Shuan-Yow Li, Yung-Jung Chen
BACKGROUND: We wanted to identify in children with epilepsy the factors associated with seizure control and recurrence after a 2-year remission. METHODS: We did a 5-year follow-up of epileptic children whose antiepileptic medication had been stopped. Bivariate and multivariate analyses were used to compare features of electroencephalograms (EEGs) and clinical findings. In this study, 43 patients with and 64 without a seizure recurrence (SR) were enrolled. RESULTS: Clinical features strongly associated with SR in the univariate analysis included a symptomatic etiology for seizures, a history of status epilepticus, treatment duration before stopping antiepileptic drugs, and abnormal EEG findings at the time of stopping antiepileptic drugs...
December 18, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28079875/early-postnatal-illness-severity-scores-predict-neurodevelopmental-impairments-at-10-years-of-age-in-children-born-extremely-preterm
#7
J W Logan, O Dammann, E N Allred, C Dammann, K Beam, R M Joseph, T M O'Shea, A Leviton, K C K Kuban
OBJECTIVE: A neonatal illness severity score, The Score for Neonatal Acute Physiology-II (SNAP-II), predicts neurodevelopmental impairments at two years of age among children born extremely preterm. We sought to evaluate to what extent SNAP-II is predictive of cognitive and other neurodevelopmental impairments at 10 years of age. STUDY DESIGN: In a cohort of 874 children born before 28 weeks of gestation, we prospectively collected clinical, physiologic and laboratory data to calculate SNAP-II for each infant...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28079314/scn1a-gene-mutation-and-adaptive-functioning-in-18-vietnamese-children-with-dravet-syndrome
#8
Thi Thu Hang Do, Diem My Vu, Thi Thuy Kieu Huynh, Thi Khanh Van Le, Eun Hwa Sohn, Thieu Mai Thao Le, Huu Hao Ha, Chi Bao Bui
BACKGROUND AND PURPOSE: Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS: Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct sequencing and multiplex ligation-dependent probe amplification. Adaptive functioning was assessed in all patients using the Vietnamese version of the Vineland Adaptive Behavior Scales, and the results were analyzed relative to the SCN1A variants and epilepsy severity...
January 2017: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/28079250/use-of-the-ketogenic-diet-in-the-neonatal-intensive-care-unit-safety-and-tolerability
#9
Lindsey Thompson, Erin Fecske, Mohammad Salim, Ara Hall
Drug-resistant epilepsy poses a challenge in neonatal patients, especially those in the neonatal intensive care unit (NICU), who have various secondary comorbidities. We present results of four children with a history of drug-resistant epilepsy for whom a ketogenic diet was initiated and used in the NICU. A nonfasting induction into ketosis over 1-2 weeks was utilized, with gradual increases in the ketogenic ratio every 2-3 days. Data were collected retrospectively from a database, which included medical history, daily progress notes, relevant laboratory data, and imaging and diagnostic information...
January 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28076834/risk-factors-for-posttraumatic-epilepsy-a-systematic-review-and-meta-analysis
#10
REVIEW
Tao Xu, Xinyuan Yu, Shu Ou, Xi Liu, Jinxian Yuan, Hao Huang, Juan Yang, Liang He, Yangmei Chen
OBJECTIVE: A systematic review and meta-analysis was performed to identify risk factors for posttraumatic epilepsy (PTE). METHODS: Two electronic databases (Medline and Embase) were searched to identify studies with a cohort, case-control, or cross-sectional design reporting on epidemiologic evidence regarding risk factors for PTE. RESULTS: Men had a higher risk of developing PTE than women [relative ratio (RR), 1.32; 95% confidence interval (CI), 1...
January 8, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28064331/severe-intermittent-anxiety-attacks-a-diagnosis-challenge-in-temporal-lobe-epilepsy
#11
Abdulaziz T Alshomrani, Radwan M Zaidan, Yosef T Abdulmalik, Nader M Alrahili
Psychiatric symptoms are frequently reported with epilepsy. Anxiety symptoms are the most common psychiatric expressions of temporal lobe epilepsy (TLE). Longer duration of the epileptic manifestation can be mistaken for psychiatric diseases, particularly when psychiatric symptoms are the only manifestations of the disorder. Here we introduce a case of a 27-year-old Saudi man presented to our clinic with a history of sudden and severe anxiety attacks over the prior 2 years, each lasting for 2-3 days. The attacks recurred monthly without clear triggers, and he recovered his normal clinical state between them...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28064325/childhood-epilepsies-what-should-a-pediatrician-know
#12
Fahad A Bashiri
Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This review will focus on points that are important in the evaluation of children who have experienced seizures. A comprehensive and neurologically focused framework for history taking and a thorough clinical examination are the cornerstones in diagnosing and managing seizures. This article reviews the clinical approach to the diagnosis, investigation, and management of epilepsy in children, excluding neonatal seizures...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28057660/protocol-for-intraoperative-assessment-of-the-human-cerebrovascular-glycocalyx
#13
R H L Haeren, H Vink, J Staals, M A M J van Zandvoort, J Dings, J J van Overbeeke, G Hoogland, K Rijkers, O E M G Schijns
INTRODUCTION: Adequate functioning of the blood-brain barrier (BBB) is important for brain homoeostasis and normal neuronal function. Disruption of the BBB has been described in several neurological diseases. Recent reports suggest that an increased permeability of the BBB also contributes to increased seizure susceptibility in patients with epilepsy. The endothelial glycocalyx is coating the luminal side of the endothelium and can be considered as the first barrier of the BBB. We hypothesise that an altered glycocalyx thickness plays a role in the aetiology of temporal lobe epilepsy (TLE), the most common type of epilepsy...
January 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#14
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28052554/antiepileptic-drugs-and-risk-of-suicide-attempts-a-case-control-study-exploring-the-impact-of-underlying-medical-conditions
#15
Lamiae Grimaldi-Bensouda, Clementine Nordon, Michel Rossignol, Vincent Jardon, Virginie Boss, Frédérique Warembourg, Robert Reynolds, Xavier Kurz, Frédéric Rouillon, Lucien Abenhaim
PURPOSE: Randomized-controlled trials and claims databases suggest that antiepileptic drug (AED) use may increase the risk of suicide attempts (SA). The present case-control study explores the impact of underlying indications on this potential association. METHODS: Physicians collected the medical history; prior 12-month drug use was obtained from standardized telephone interviews with patients. The association between AED use and SA was explored using multivariate conditional logistic regression...
January 3, 2017: Pharmacoepidemiology and Drug Safety
https://www.readbyqxmd.com/read/28043024/utility-of-a-questionnaire-tool-quaras-for-localizing-and-lateralizing-seizures-in-the-epilepsy-monitoring-unit-emu
#16
Rima M Chaudhari, Bhargavi Ramanujam, Renjith Appukuttan, Anubha Sharma, Yuvraj Kunwar, Gaurav Tejaniya, Ajay Garg, Madakasira Vasantha Padma, Madhavi Tripathi, Chandrashekhar Bal, Deepa Dash, Sarat P Chandra, Manjari Tripathi
OBJECTIVES: An accurate description of the seizure semiology improves the recognition of the ictal onset zone and helps in hypothesizing the possible epileptogenic zone (EZ). Semiology based on a reliable description of seizures may be as good as investigative modalities, as has been shown by numerous studies. The main objective of this study was to apply a questionnaire-tool for auras and semiology (QUARAS) in refractory epilepsy cohort and compare its yield to that of standard history-taking...
December 22, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28038387/on-the-nose-olfactory-disturbances-in-patients-with-transient-epileptic-amnesia
#17
Sharon A Savage, Christopher R Butler, Fraser Milton, Yang Han, Adam Z Zeman
OBJECTIVE: While olfactory hallucinations are relatively rare in epilepsy, a high prevalence (up to 42%) has been reported in one form - Transient Epileptic Amnesia (TEA). TEA is characterized by recurring amnestic seizures and is commonly associated with persistent interictal memory deficits. Despite reports of changes in smell, olfactory ability has not been objectively assessed in this group. The aim of this study was to measure olfactory ability in patients with TEA and explore whether olfactory symptoms relate to other clinical variables...
December 27, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28031853/lithium-therapy-in-comorbid-temporal-lobe-epilepsy-and-cycloid-psychosis
#18
Paul Brown, Sridhar Kashiviswanath, Alison Huynh, Naveen Allha, Ken Piaggio, Saddichha Sahoo, Ankur Gupta
The treatment of post-ictal psychosis has foundered on uncertainty in diagnosis of psychotic phenotypes, and equivocal efficacy of first and second generation antipsychotics. This article presents a case history of comorbid temporal lobe epilepsy and psychosis, suggests the applicability of the continental, cycloid psychosis diagnostic conceptualization to post-ictal psychoses, and demonstrates the efficacy of lithium in their treatment. Clinical studies of comorbidity of epilepsy and psychosis offer great potential as a basis for modelling brain-mind relationships, and neuropsychiatric nosology, pathophysiology and treatment...
December 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28031851/a-good-excuse-for-skipping-the-test-electrical-storm-in-a-teenager
#19
Patrícia Rodrigues, António Pinheiro-Vieira, Marília Loureiro, Sílvia Álvares, Diana Anjo, Carla Roque, Maria João Sousa, Severo Torres
We describe the case of a teenager with a structurally normal heart that presented with torsades de pointes and cardiac arrest. He had a history of epilepsy in childhood, mild cognitive impairment and cognitive visual dysfunction. The baseline electrocardiogram had prominent J waves and a marked early repolarization pattern in all the leads, with normal QT interval. We discuss the differential diagnosis for this interesting case, as well as the patient's management.
December 2016: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28027373/new-onset-seizure-in-adults-and-adolescents-a-review
#20
Jay R Gavvala, Stephan U Schuele
Importance: Approximately 8% to 10% of the population will experience a seizure during their lifetime. Only about 2% to 3% of patients go on to develop epilepsy. Understanding the underlying etiology leading to an accurate diagnosis is necessary to ensure appropriate treatment and that patients with low risk for recurrence are not treated unnecessarily. Observations: Patients can present with new-onset seizure for a variety of reasons such as acute symptomatic seizures due to acute brain injury or metabolic derangements, or unprovoked seizures that are the initial manifestation of epilepsy...
27, 2016: JAMA: the Journal of the American Medical Association
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