160,339 results match your criteria Epilepsy Juvenile Myoclonic


Auto-destruction of the thyroid gland and coexisting glutamic acid decarboxylase mediated neurological disease in an adolescent: an unusual presentation of autoimmunity.

J Pediatr Endocrinol Metab 2021 Jun 24. Epub 2021 Jun 24.

Pediatric Endocrinology, NYU Langone Medical Center, New York, USA.

Objectives: Hashimoto's thyroiditis (HT) is characterized by lymphocytic thyroid infiltration. Gradual thyroid failure can occur due to thyroid cell apoptosis. Rarely neurological autoimmunity due to glutamic acid decarboxylase (GAD) antigen can co exist with HT. Read More

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Prevalence, healthcare resource utilization and mortality of Lennox-Gastaut syndrome: retrospective linkage cohort study.

Seizure 2021 Jun 9;91:159-166. Epub 2021 Jun 9.

Evidence Synthesis, Modeling, Communications, Evidera, The Ark, 201 Talgarth Road, London W6 8BJ, UK. Electronic address:

Purpose: To retrospectively investigate the prevalence, demography, antiseizure medication (ASM) usage, healthcare resource utilization (HCRU), and mortality of patients with Lennox-Gastaut syndrome (LGS) in primary and secondary care in the UK.

Methods: Patients with confirmed LGS were anonymously identified from the UK Clinical Practice Research Datalink (CPRD) GOLD database (01/01/1987-31/10/2018) using the LGS Read Code (F250500). Probable LGS was identified using the International Classification of Diseases-10/Read Code for epilepsy (Hospital Episode Statistics [HES]/CPRD) plus rufinamide prescription. Read More

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Differential activation of neuroinflammatory pathways in children with seizures: A cross-sectional study.

Seizure 2021 May 31;91:150-158. Epub 2021 May 31.

Division of Neuroimmunology and Neurovirology, NINDS, NIH, Bethesda, MD, United States.

Purpose: Inflammation plays a crucial role in epileptogenesis. We analyzed inflammatory cytokines in plasma and saliva from children with seizures and healthy controls and measured their associations with HHV6 and EBV infection.

Methods: We analyzed plasma from 36 children within 24 h of seizures (cases) and 43 healthy controls and saliva from 44 cases and 44 controls with a multiplex immunoassay. Read More

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Further delineation of PIGB-related early infantile epileptic encephalopathy.

Eur J Med Genet 2021 Jun 20:104268. Epub 2021 Jun 20.

Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy; Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay, early-onset epilepsy and peripheral neuropathy. We report on a 5 year-old girl born from consanguineous parents, manifesting severe global developmental delay with absent speech, mixed peripheral polyneuropathy, hypotonia, bilateral equino-varo-supinated-cavus foot, early-onset scoliosis, elevated serum alkaline phosphatase and a single episode of febrile status epilepticus. Read More

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SLC35A2-CDG: novel variants with two ends of the spectrum.

J Pediatr Endocrinol Metab 2021 Jun 21. Epub 2021 Jun 21.

Department of Pediatric Neurology, Ankara, Turkey.

Objectives: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. Read More

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Analysis of Deep Brain Stimulation Lead Targeting in the Stimulation of Anterior Nucleus of the Thalamus for Epilepsy Clinical Trial.

Neurosurgery 2021 Jun 23. Epub 2021 Jun 23.

Medtronic, Inc., Minneapolis, Minnesota, USA.

Background: Deep brain stimulation (DBS) of the anterior nucleus of the thalamus (ANT) is an effective therapy for patients with drug-resistant focal epilepsy. Best practices for surgical targeting of the ANT can be refined as new information becomes available regarding effective stimulation sites.

Objective: To conduct a retrospective analysis of the relationship between outcomes (seizure reduction during year 1) and DBS lead locations in subjects from the SANTÉ pivotal trial (Stimulation of ANT for Epilepsy) based upon recent clinical findings. Read More

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Early and late-onset nonconvulsive status epilepticus after stroke.

Arq Neuropsiquiatr 2021 May;79(5):384-389

Antalya Education and Research Hospital, Department of Neurology, Antalya, Turkey.

Background: Nonconvulsive status epilepticus (NCSE) is a condition that needs timely diagnosis and treatment. It has insignificant clinical features and presents high risk of misdiagnosis.

Objective: To investigate NCSE among patients with stroke, given that stroke plays an important role in the etiology of NCSE. Read More

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X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

PLoS Genet 2021 Jun 23;17(6):e1009608. Epub 2021 Jun 23.

Ministry of Education Key Laboratory of Model Animal for Disease Study, Department of Neurology, Affiliated Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China.

The X-linked GRIA3 gene encodes the GLUA3 subunit of AMPA-type glutamate receptors. Pathogenic variants in this gene were previously reported in neurodevelopmental diseases, mostly in male patients but rarely in females. Here we report a de novo pathogenic missense variant in GRIA3 (c. Read More

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Propofol Anesthesia Decreased the Efficiency of Long-Range Cortical Interaction in Humans.

IEEE Trans Biomed Eng 2021 Jun 23;PP. Epub 2021 Jun 23.

Objective: Phase-amplitude coupling (PAC) has recently been used to illuminate cross-frequency coordination in neurophysiological activity of electroencephalogram. However, the PAC at a meso-scale (electrocorticogram, ECoG) and PAC between different areas have still not been fully clarified.

Methods: In this study, we analyzed ECoG data recorded from surgical patients (n= 9) with pharmaco-resistant epilepsy during the surgical treatment. Read More

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A Review on Chitosan in Drug Delivery for the Treatment of Neurological and Psychiatric Disorders.

Curr Pharm Biotechnol 2021 Jun 22. Epub 2021 Jun 22.

Department of Psychiatry, Arak University of Medical Sciences, Arak, Iran.

Neurological diseases are known as global health problems with a growing number of patients annually. Neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease as well as spinal cord injury, hypoxic ischemia injury, epilepsy, depression etc., are some examples of neurological diseases. Read More

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Biallelic ADGRV1 variants are associated with Rolandic epilepsy.

Neurol Sci 2021 Jun 23. Epub 2021 Jun 23.

Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, 11 Renminxi Road 11, Foshan, 528000, Guangdong, China.

Objective: Rolandic epilepsy (RE) is among the most common focal epilepsies in childhood. For the majority of patients with RE and atypical RE (ARE), the etiology remains elusive. We thus screened patients with RE/ARE in order to detect disease-causing variants. Read More

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The impact of rotavirus vaccination in the prevalence of gastroenteritis and comorbidities among children after suboptimal rotavirus vaccines implementation in Taiwan: A population-based study.

Medicine (Baltimore) 2021 Jun;100(25):e25925

Division of Pediatric Gastroenterology and Hepatology, Department of Pediatrics, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan.

Abstract: In Taiwan, rotavirus vaccination was implemented in 2006 in the private sector. The population-based impact of rotavirus vaccination on gastroenteritis and comorbidities of children remains under-investigated.We analyzed the annual prevalence of rotavirus-related disease, including gastroenteritis, convulsions, epilepsy, type I diabetes mellitus, intussusception, and biliary atresia among children under 5 years of age. Read More

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Pliny the Elder: Lessons from the Naturalist as an Early Neuroscientist.

Neuroscientist 2021 Jun 23:10738584211026527. Epub 2021 Jun 23.

Division of Neurology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

Pliny the Elder was a prolific Roman author, naturalist, and military leader. Yet, his impact on modern-day neuroscience, psychiatry, and neurology has been little explored. Here, we aimed to trace the origins of our current understanding of the brain in ancient Rome through Pliny and his work, . Read More

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Proteomic differences in the hippocampus and cortex of epilepsy brain tissue.

Brain Commun 2021 9;3(2):fcab021. Epub 2021 Mar 9.

Comprehensive Epilepsy Center, New York University Grossman School of Medicine, New York, NY, USA.

Epilepsy is a common neurological disorder affecting over 70 million people worldwide, with a high rate of pharmaco-resistance, diverse comorbidities including progressive cognitive and behavioural disorders, and increased mortality from direct (e.g. sudden unexpected death in epilepsy, accidents, drowning) or indirect effects of seizures and therapies. Read More

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Seizures induced by micturition: A rare form of reflex epilepsy.

Epilepsy Behav Rep 2021 31;16:100460. Epub 2021 May 31.

IRCCS Neuromed, Pozzilli (IS), Italy.

•Micturition-induced seizures are a rare form of reflex epilepsy.•Video-EEG monitoring is crucial for diagnosis.•Symptomatogenic zone involves mesial fronto-parietal cortex. Read More

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EEG signal analysis using classification techniques: Logistic regression, artificial neural networks, support vector machines, and convolutional neural networks.

Heliyon 2021 Jun 7;7(6):e07258. Epub 2021 Jun 7.

Universidad Distrital Francisco José de Caldas, Bogotá, Colombia.

Epilepsy is a brain abnormality that leads its patients to suffer from seizures, which conditions their behavior and lifestyle. Neurologists use an electroencephalogram (EEG) to diagnose this disease. This test illustrates the signaling behavior of a person's brain, allowing, among other things, the diagnosis of epilepsy. Read More

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Sporadic and rapidly progressive arrhythmogenic right ventricular cardiomyopathy in a 12-year-old boy who was diagnosed with epilepsy.

Oxf Med Case Reports 2021 Jun 18;2021(6):omab046. Epub 2021 Jun 18.

Faculty of Medicine, University of Aleppo, Syria.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is one of the leading causes of sudden cardiac death amongst young people and athletes. In this genetic disease, arrhythmia and fibro-fatty changes in the right ventricular myocardium are the main characteristics of the disease. Here, we report a case of ARVC in a 12-year-old boy who was previously diagnosed with epilepsy, the patient's condition manifested sporadically and was complicated by rapid progression, and unfortunate fatal deterioration after admission into the pediatric emergency room due to fatigue, dizziness and palpitation. Read More

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How Parents Cope with the Care of a Child with Epilepsy: Based upon Grounded Theory.

Ethiop J Health Sci 2021 Mar;31(2):329-338

Assistant Professor, Nursing Research Center, Kerman University of Medical Sciences, Kerman, Iran.

Background: Parents of children with seizure face the complicated health issues of their children. Adaptation strategies of parents as major care providers impact not only their handling of stresses on themselves but also children's quality of life. This study investigated the adaptation processes of parents of children with seizure at two educational hospitals affiliated with Kerman University of Medical Sciences in Iran. Read More

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Self-injurious behavior in epilepsy.

Ind Psychiatry J 2020 Jul-Dec;29(2):352-354. Epub 2021 Mar 15.

Department of Psychiatry, Dr. D Y Patil Medical College, Dr D Y Patil University, Pimpri, Pune, Maharashtra, India.

Self-injurious behavior (SIB) can be described as an act involving self-inflicted destruction of tissue, right away or over a period of time. Patients with epilepsy have to deal with an often chronic and unpredictable disorder leading to adversity in many psychosocial variables such as employment, stigma, and overall quality of life. The above factors contribute toward SIB in these patients. Read More

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Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.

Hum Mutat 2021 Jun 22. Epub 2021 Jun 22.

Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

SYNCRIP encodes for the Synaptotagmin-binding cytoplasmic RNA-interacting protein, involved in RNA-binding and regulation of multiple cellular pathways. It has been proposed as a candidate gene for neurodevelopmental disorders (NDDs) with autism spectrum disorder (ASD), intellectual disability (ID), and epilepsy. We ascertained genetic, clinical, and neuroradiological data of three additional individuals with novel de novo SYNCRIP variants. Read More

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Oxygen toxicity seizure mimics.

Diving Hyperb Med 2021 Jun;51(2):161-166

Department of Hyperbaric Medicine, Fiona Stanley Hospital, Perth, Australia.

Introduction: Oxygen toxicity seizures (OTS) are a well-recognised complication of hyperbaric oxygen treatment (HBOT). As such, seizure-like activity during HBOT is usually presumed to be a result of central nervous system oxygen toxicity (CNS-OT). Four cases are reported here where causes other than CNS-OT were determined as being the likely cause of the seizure; causes we have labelled 'OTS mimics'. Read More

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A deep learning framework with multi-perspective fusion for interictal epileptiform discharges detection in scalp electroencephalogram.

J Neural Eng 2021 Jun 22. Epub 2021 Jun 22.

BeiHang University School of Biological Science and Medical Engineering, No. 37 Xueyuan Road, Haidian District, Beijing, Beijing, 100191, CHINA.

Objective: Interictal epileptiform discharges (IEDs) are an important and widely accepted biomarker used in the diagnosis of epilepsy based on scalp electroencephalography (EEG). Because the visual detection of IEDs has various limitations, including high time consumption and high subjectivity, a faster, more robust, and automated IED detector is strongly in demand.

Approach: Based on deep learning, we proposed an end-to-end framework with multi-scale morphologic features in the time domain and correlation in sensor space to recognize IEDs from raw scalp EEG. Read More

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Feasibility of using an automated analysis of formulation effort in patients' spoken seizure descriptions in the differential diagnosis of epileptic and nonepileptic seizures.

Seizure 2021 Jun 13;91:141-145. Epub 2021 Jun 13.

Academic Neurology Unit, University of Sheffield, Royal Hallamshire Hospital, Sheffield, United Kingdom.

Objective: There are three common causes of Transient Loss of Consciousness (TLOC), syncope, epileptic and psychogenic nonepileptic seizures (PNES). Many individuals who have experienced TLOC initially receive an incorrect diagnosis and inappropriate treatment. Whereas syncope can be distinguished relatively easily with a small number of "yes"/"no" questions, the differentiation of the other two causes of TLOC is more challenging. Read More

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Ictal gamma-band interactions localize ictogenic nodes of the epileptic network in focal cortical dysplasia.

Clin Neurophysiol 2021 May 26;132(8):1927-1936. Epub 2021 May 26.

Department of Physiology, Second Faculty of Medicine, Charles University, Prague, Czech Republic; Department of Developmental Epileptology, Institute of Physiology, Czech Academy of Sciences, Prague, Czech Republic. Electronic address:

Objective: Epilepsy surgery fails in > 30% of patients with focal cortical dysplasia (FCD). The seizure persistence after surgery can be attributed to the inability to precisely localize the tissue with an endogenous potential to generate seizures. In this study, we aimed to identify the critical components of the epileptic network that were actively involved in seizure genesis. Read More

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Translational potential of the ghrelin receptor agonist macimorelin for seizure suppression in pharmacoresistant epilepsy.

Eur J Neurol 2021 Jun 22. Epub 2021 Jun 22.

Department of Pharmaceutical Chemistry, Drug Analysis and Drug Information, Research Group Experimental Pharmacology, Center for Neurosciences (C4N), Vrije Universiteit Brussel (VUB), Laarbeeklaan 103, 1090, Brussels, Belgium.

Background: Current drugs for epilepsy affect seizures, but no antiepileptogenic or disease-modifying drugs are available that prevent or slow down epileptogenesis, which is characterized by neuronal cell loss, inflammation and aberrant network formation. Ghrelin and ghrelin receptor (ghrelin-R) agonists were previously found to exert anticonvulsant, neuroprotective and anti-inflammatory effects in seizure models and immediately after status epilepticus (SE). Therefore, the aim of this study was to assess whether the ghrelin-R agonist macimorelin is antiepileptogenic in the pharmacoresistant intrahippocampal kainic acid (IHKA) mouse model. Read More

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Comment on the paper: Evidence-based treatment recommendations for neck and low back pain across Europe: A systematic review of guidelines.

Eur J Pain 2021 Jun 22. Epub 2021 Jun 22.

Center for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.

Corp et al. conducted an important study to synthesize the evidence from European guidelines on neck and lower back pain to identify appropriate recommendations (Corp et al., 2021). Read More

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Epileptic Seizure Recognition Using Reduced Deep Convolutional Stack Autoencoder and Improved Kernel RVFLN from EEG Signals.

IEEE Trans Biomed Circuits Syst 2021 Jun 22;PP. Epub 2021 Jun 22.

In this paper, reduced deep convolutional stack autoencoder (RDCSAE) and improved kernel random vector functional link network (IKRVFLN) are combined to recognize the epileptic seizure using both the multichannel scalp and single-channel electroencephalogram (EEG) signals. The novel RDCSAE structure is designed to extract the most discriminative unsupervised features from EEG signals and fed into the proposed supervised IKRVFLN classifier to train efficiently by reducing the mean-square error cost function for recognizing the epileptic seizure activity with promising accuracy. The proposed RDCSAE-IKRVFLN algorithm is tested over the benchmark Boston Childrens Hospital multichannel scalp EEG (sEEG) and Boon University, Germany single-channel EEG databases. Read More

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Association of Intellectual Disability With All-Cause and Cause-Specific Mortality in Sweden.

JAMA Netw Open 2021 Jun 1;4(6):e2113014. Epub 2021 Jun 1.

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Importance: Knowledge of the health challenges and mortality in people with intellectual disability (ID) should guide health policies and practices in contemporary society.

Objective: To examine premature mortality in individuals with ID.

Design, Setting, And Participants: This population-based longitudinal cohort study obtained data from several national health care, education, and population registers in Sweden. Read More

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Operative variations in temporal lobe epilepsy surgery and seizure and memory outcome in 226 patients suffering from hippocampal sclerosis.

Neurol Res 2021 Jun 22:1-10. Epub 2021 Jun 22.

Department of Neurosurgery, Medical University Vienna, Vienna, Austria.

: The aim of this retrospective cohort study was to assess seizure and memory outcomes following temporal lobe surgery in patients suffering from medically refractory temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS).: A retrospective monocentric data analysis was performed in consecutive patients who were operated on during 2002-2018. In the first decennium, standard temporal lobe resections (TLR) were predominately performed, and later, antero-temporal lobe resections (ATLR) were mainly performed. Read More

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