26,268 results match your criteria generalized epilepsy

Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.

Mov Disord 2021 May 5. Epub 2021 May 5.

Klinik für Neurologie, Asklepios Fachklinikum Stadtroda, Stadtroda, Germany.

Background: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications.

Objectives: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity).

Methods: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Read More

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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable.

Epilepsia 2021 May 5. Epub 2021 May 5.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Objective: The clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration of the fundamental clinical entities that comprise an epilepsy is essential in the study of causes, trajectories, and treatment responses. The Human Phenotype Ontology (HPO) is used widely in clinical and research genetics for concise communication and modeling of clinical features, allowing extracted data to be harmonized using logical inference. Read More

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Pearls and Oy-sters: Driving Safety in Photosensitive Genetic Generalized Epilepsy.

Neurology 2021 May 4. Epub 2021 May 4.

From the Department of Neurology, West Virginia University School of Medicine, Morgantown, WV.

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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.

Hum Genet 2021 May 4. Epub 2021 May 4.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 (CHD5) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development. Pathogenic variants in six of nine chromodomain (CHD) genes cause autosomal dominant neurodevelopmental disorders, while CHD5-related disorders are still unknown. Thanks to GeneMatcher and international collaborations, we assembled a cohort of 16 unrelated individuals harboring heterozygous CHD5 variants, all identified by exome sequencing. Read More

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Hyperammonemia in Patients With Status Epilepticus Treated With or Without Valproic Acid.

Neurologist 2021 May 5;26(3):80-82. Epub 2021 May 5.

Department of Neurology, Mayo Clinic, Rochester, MN.

Background: Hyperammonemia is a common side effect of valproic acid (VPA) and can occur after generalized seizures, but the clinical significance is unclear. The aim of this study was to better understand the clinical practice and utility of ammonia testing in status epilepticus (SE) treated with or without VPA.

Methods: Charts of adult patients with SE from St. Read More

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Epilepsy lifetime prevalence in Iran: a large population- based national survey.

Sci Rep 2021 May 3;11(1):9437. Epub 2021 May 3.

Shefa Neuroscience Research Center, Khatam-Ol-Anbia Hospital, Tehran, Iran.

Epilepsy has garnered increased public health focus because patients who suffer from epilepsy experience pronounced and persistent health and socioeconomic disparities despite treatment and care advances. The epidemiology of epilepsy is diverse in different countries and regions. This nationwide population-based cross-sectional study was conducted to determine the life time prevalence and health related factors of epilepsy for the first time in Iran through a two-phase door-to-door survey method. Read More

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Effect and tolerability of perampanel in patients with drug-resistant epilepsy.

Epilepsy Behav 2021 Apr 30;119:107965. Epub 2021 Apr 30.

The National Center for Epilepsy, Sandvika, Oslo University Hospital, Oslo, Norway; University of Oslo University, Norway; Program for Pharmacy, Department of Life Sciences and Health, Faculty of Health Sciences, Oslo Metropolitan University, Oslo, Norway.

Objective: Perampanel is one of the most recently approved antiseizure medications. The aim of the present study was to assess clinical efficacy and tolerability, in combination with pharmacokinetic variability, of perampanel treatment in patients at a tertiary referral center for epilepsy.

Methods: We performed a retrospective observational study of patients given perampanel as adjunctive treatment in the period January 2013 - February 2019 at the National Center for Epilepsy at Oslo University Hospital, Norway. Read More

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Driving rate in patients with seizures: Epilepsy vs. functional seizures.

Epilepsy Behav 2021 Apr 30;119:107985. Epub 2021 Apr 30.

Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Objectives: We investigated the rate of driving in patients with seizures [i.e., epilepsy or functional seizures (FS)]. Read More

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CSF and Serum Biomarkers of Cerebral Damage in Autoimmune Epilepsy.

Front Neurol 2021 16;12:647428. Epub 2021 Apr 16.

Department of Epileptology, University Hospital Bonn, Bonn, Germany.

Our goal was to investigate whether biomarkers of cerebral damage are found in autoimmune-mediated epilepsy (AIE) and whether these can differentiate AIE from other seizure disorders. We retrospectively searched our cerebrospinal fluid (CSF) database for patients with definite AIE, hippocampal sclerosis due to other causes (HS), genetic generalized epilepsy (GGE), and psychogenic, non-epileptic seizures (PNES). We measured serum and CSF tau, neurofilament 1 (NFL), glial fibrillary acid protein (GFAP), and ubiquitin-carboxy-terminal hydrolase L1 with a single-molecule array. Read More

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Characteristics of visual sensitivity in familial cortical myoclonic tremor and epilepsy.

Epileptic Disord 2021 Apr 30. Epub 2021 Apr 30.

Epilepsy and Sleep Disorders Unit, Department of Neurology, Xijing hospital, Air Force Military Medical University, Xi'an, China.

The aim of the study was to describe the electroclinical features of visual sensitivity in patients with familial cortical myoclonic tremor and epilepsy. We searched the EEG database using the terms "familial cortical myoclonic tremor and epilepsy" and "visual sensitivity" over a seven-year period from March 2013 to April 2020 in the Xijing hospital, Xi'an, China. The inclusion criteria were demonstrable electroclinical visual sensitivity in the form of eye-opening sensitivity, eye-closure sensitivity, eyes-closed sensitivity and photosensitivity. Read More

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Non-convulsive status epilepticus induced by acute thalamic lesions: A report of three cases.

Seizure 2021 Apr 22;89:1-4. Epub 2021 Apr 22.

EEG/Sleep Laboratory, Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisboa, Portugal; Univ Lisboa, Fac Med, Clin Univ Neurol, Lisboa, Portugal; Centro de Referência para Epilepsias Refratárias do CHULN, Member of ERN EpiCare, Portugal.

The thalamocortical network appears to play a pivotal role in ictogenesis. We herein present three cases of non-convulsive status epilepticus (SE), in adult patients without previous history of epilepsy or seizures, precipitated by acute thalamic vascular and metabolic-induced lesions. In all cases the EEG showed patterns consistent with generalized SE confirmed either by a fast and complete clinical and EEG response to anti-seizure medication or definitive subtle motor signs consistent with SE. Read More

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.


Am J Hum Genet 2021 Apr 28. Epub 2021 Apr 28.

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Read More

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Levetiracetam effectiveness as add-on therapy in Bulgarian patients with drug-resistant epilepsy.

Folia Med (Plovdiv) 2021 Apr;63(2):234-241

Medical University of Plovdiv, Plovdiv, Bulgaria.

Introduction: There are no reliable prospective studies on the effectiveness of LEV in Bulgarian adult patients with drug-resistant epilepsy.

Aim: The study aimed at conducting an open, prospective study on various aspects of levetiracetam (LEV) effectiveness in Bulgarian patients with drug-resistant epilepsy.

Materials And Methods: The study was performed with patients with epilepsy recruited from those attending the Department of Neurology at the University Hospital in Plovdiv, Bulgaria. Read More

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Efficacy and tolerability of adjuvant perampanel: an Australian multicenter real-world observational study in refractory focal and generalized epilepsy syndromes.

Epilepsy Behav 2021 Apr 27;119:107935. Epub 2021 Apr 27.

Department of Medicine, St Vincent's Hospital Melbourne, The University of Melbourne, Australia.

Purpose: To explore the efficacy and tolerability of adjuvant perampanel (PER) and their associated risk factors in late add-on drug-resistant epilepsy.

Method: Retrospective multicenter 'real-world' observational study. Consecutively identified patients commenced on PER, with mixed epilepsy syndromes, from nine Australian epilepsy centers. Read More

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Eucalyptus Oil-Induced Seizures in Children: A Single-Center Prospective Study.

Cureus 2021 Mar 25;13(3):e14109. Epub 2021 Mar 25.

Pediatrics, Prathima Institute of Medical Sciences, Karimnagar, IND.

Objective Eucalyptus oil (EO) is known to have proconvulsant properties. EO is present in many over-the-counter preparations and used orally or topically to treat many ailments. In this study, we seek to describe clinical features, neuroimaging, and electroencephalographic findings and follow up outcome in children with eucalyptus oil-induced seizures (EOIS). Read More

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Celecoxib Decrease Seizures Susceptibility in a Rat Model of Inflammation by Inhibiting HMGB1 Translocation.

Pharmaceuticals (Basel) 2021 Apr 19;14(4). Epub 2021 Apr 19.

Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah 21589, Saudi Arabia.

The risk of developing epilepsy is strongly linked to peripheral inflammatory disorders in humans. High-mobility group box protein 1 (HMGB1) has the most focus for being a suspect in this scenario. The current study aimed to detect the celecoxib effect, an anti-inflammatory drug, on decreasing seizure susceptibility and organ damage in lipopolysaccharides (LPS)/pilocarpine (PILO) pretreated Wistar rats. Read More

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Long-term effects of zonisamide in adult patients with intellectual disability.

Acta Neurol Scand 2021 Apr 29. Epub 2021 Apr 29.

Department of Neurology, Epilepsy Center, Sana-Krankenhaus Rummelsberg (teaching hospital of the Friedrich-Alexander-Universität Erlangen-Nürnberg), Schwarzenbruck, Germany.

Objective: This study aimed to evaluate the tolerability and efficacy of zonisamide (ZNS) in adult patients with drug-resistant epilepsy and intellectual disability (ID) at our epilepsy centre.

Patients And Methods: By conducting a monocentric, open-label observational study based on standardized seizure records we retrospectively assessed 87 patients (39 female, mean age 40.6 ± 13. Read More

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Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

Neurol Genet 2021 Apr 18;7(2):e579. Epub 2021 Mar 18.

Research Institute of the McGill University Health Centre (K.M.), Montreal, PQ; Division of Child Neurology (K.M.), Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ; Department of Neurology & Neurosurgery (K.M.), Montreal Children's Hospital, McGill University, Montreal, PQ; Child Neurology and Psychiatry (C.M.), Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy; Division of Genetic Medicine (G.L.C., J.N., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Neurology (A.M.), Great Ormond Street Hospital for Children, London, UK; Developmental Neurosciences Programme (A.M.), UCL Great Ormond Street Institute of Child Health, London, UK; Neurology Network Melbourne (J.P.), Melbourne, Victoria, Australia; Murdoch Children's Research Institute (C.S., I.E.S.), Parkville, Victoria, Australia; Department of Paediatrics and Child Health (T.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Division of Neurology (S.M.), Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada; Neurology Unit and Neurogenetic Laboratories (C.B., A.R., R.G.), Meyer Children's Hospital, Florence, Italy; Department of Clinical Genetics (R.H.S.), Great Ormond Street Hospital, London, UK; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia; and The Florey Institute of Neuroscience and Mental Health (I.E.S.), Heidelberg, Victoria, Australia.

Objective: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia.

Methods: We performed phenotyping on patients with deletions, duplications, or point mutations and a history of seizures.

Results: Twenty-three patients with MAND and seizures were included. Read More

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Cognitive Dysfunction in Juvenile Myoclonic Epilepsy (JME) - A Tertiary Care Center Study.

Ann Indian Acad Neurol 2021 Jan-Feb;24(1):40-50. Epub 2021 Feb 16.

Department of Neurology, Govind Ballabh Pant Institute of Post Graduate Medical Education and Research (GIPMER), New Delhi, India.

Background And Aim: Epilepsy often leads to cognitive impairment. Idiopathic generalized epilepsy as a group is considered to be benign in terms of its effects on cognition. Though, neuropsychological testing reveals subtle frontal impairment in patients with juvenile myoclonic epilepsy (JME). Read More

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February 2021

Sudden Unexpected Death in Epilepsy: A PersonaliZed Prediction Tool.

Neurology 2021 Apr 28. Epub 2021 Apr 28.

Ashwani Jha, NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK; Cheongeun Oh,Division of Biostatistics, Department of Population Health, New York University Langone Health, New York, NY, USA;Dale Hesdorffer,Department of Epidemiology, Columbia University Medical Center, New York, NY, USA; Beate Diehl, NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK; Sasha Devore, Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY, USA; Martin Brodie,Epilepsy Unit, University of Glasgow, Glasgow, Scotland; Torbjörn Tomson,Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Josemir W. Sander,NIHR University College London Hospitals Biomedical Research Centre, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK & Chalfont Centre for Epilepsy, Chalfont St Peter, SL9 0RJ, UK & Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede, Netherlands; Thaddeus S. Walczak,MINCEP Comprehensive Epilepsy Center, University of Minnesota, Minneapolis, MN, USA;Orrin Devinsky,Comprehensive Epilepsy Center, New York University Langone Medical Center, New York, NY, USA.

Objective: To develop and validate a tool for individualised prediction of Sudden Unexpected Death in Epilepsy (SUDEP) risk, we re-analysed data from one cohort and three case-control studies undertaken 1980-2005.

Methods: We entered 1273 epilepsy cases (287 SUDEP, 986 controls) and 22 clinical predictor variables into a Bayesian logistic regression model.

Results: Cross-validated individualized model predictions were superior to baseline models developed from only average population risk or from generalised tonic-clonic seizure frequency (pairwise difference in leave-one-subject-out expected log posterior density = 35. Read More

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Proteomics and Transcriptomics of the Hippocampus and Cortex in SUDEP and High-Risk SUDEP Patients.

Neurology 2021 Apr 28. Epub 2021 Apr 28.

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

Objective: To identify the molecular signaling pathways underlying sudden unexpected death in epilepsy (SUDEP) and high-risk SUDEP compared to epilepsy control patients.

Methods: For proteomics analyses, we evaluated the hippocampus and frontal cortex from microdissected post-mortem brain tissue of 12 SUDEP and 14 non-SUDEP epilepsy patients. For transcriptomics analyses, we evaluated hippocampus and temporal cortex surgical brain tissue from mesial temporal lobe epilepsy (MTLE) patients: 6 low-risk and 8 high-risk SUDEP as determined by a short (< 50 seconds) or prolonged (≥ 50 seconds) postictal generalized EEG suppression (PGES) that may indicate severely depressed brain activity impairing respiration, arousal, and protective reflexes. Read More

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Brivaracetam: How Well Does It Fare as an Anti-Epileptic? A Review.

Neurol India 2021 Mar-Apr;69(2):284-293

Lead - Scientific writing, Indegene Pvt Ltd., Nagwara, Bangalore, India.

Objectives: Epilepsy is a common neurological ailment contributing to significant disability. About one-third of all epilepsy patients would be refractory to two or more medications. Brivaracetam (BRV) is one of the newer anti-seizure medications on which extensive data is available, but its efficacy as an early add-on agent (first/second adjuvant) is unclear. Read More

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Network Substrates of Centromedian Nucleus Deep Brain Stimulation in Generalized Pharmacoresistant Epilepsy.

Neurotherapeutics 2021 Apr 26. Epub 2021 Apr 26.

Movement Disorders and Neurostimulation, Department of Neurology, Focus Program Translational Neuroscience (FTN), University Medical Center of the Johannes Gutenberg University Mainz, Rhine Main Neuroscience Network (rmn2), Mainz, Germany.

Deep brain stimulation (DBS), specifically thalamic DBS, has achieved promising results to reduce seizure severity and frequency in pharmacoresistant epilepsies, thereby establishing it for clinical use. The mechanisms of action are, however, still unknown. We evidenced the brain networks directly modulated by centromedian (CM) nucleus-DBS and responsible for clinical outcomes in a cohort of patients uniquely diagnosed with generalized pharmacoresistant epilepsy. Read More

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[Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene].

Zhonghua Yi Xue Za Zhi 2021 Apr;101(16):1182-1185

Center for Reproductive Medicine(Henan Key Laboratory of Reproduction and Genetics), the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

Genetic analysis was performed on a family of fraternal twins affected with Dravet syndrome by genetic tests whose parents were normal. To further analyze the cause of the disease, the fraternal twins were subjected to whole exome sequencing (WES), and the family was verified by Sanger sequencing, with the father semen and peripheral blood DNA were further analysed by target sequencing. The WES test identified a heterozygous c. Read More

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[The etiology of 340 infants with early-onset epilepsy].

Zhonghua Er Ke Za Zhi 2021 May;59(5):387-392

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

To investigate the etiology of epilepsy onset before 6 months old and improve clinical understanding. The medical history, electroencephalogram, brain imaging, genetic examination and other clinical data of 340 patients who were diagnosed with epilepsy with onset under 6 months of age and were hospitalized in the Department of Neurology, Beijing Children's Hospital, Capital Medical University between January 2017 and December 2018 were retrospectively analyzed. Rank sum test was used to compare the ages of onset of different etiologic groups. Read More

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Lateralized Periodic Discharges in a Patient With Dural Arteriovenous Fistula: SPECT and DWI Studies Suggest They are Ictal.

Clin EEG Neurosci 2021 Apr 26:15500594211012352. Epub 2021 Apr 26.

64005Hacettepe University Faculty of Medicine, Ankara, Turkey.

Lateralized periodic discharges (LPDs) are unilateral electroencephalography (EEG) waveforms, recurring at regular intervals. There has been a long-lasting debate about whether they represent ictal or interictal phenomena. Very few patients in the literature have been investigated with multimodal functional imaging techniques. Read More

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Premature Mortality, Risk Factors, and Causes of Death Following Childhood-Onset Neurological Impairments: A Systematic Review.

Front Neurol 2021 9;12:627824. Epub 2021 Apr 9.

Kenya Medical Research Institute (KEMRI-Wellcome Trust Research Programme), Clinical Research (Neurosciences), Kilifi, Kenya.

Neurological impairment (NI) and disability are associated with reduced life expectancy, but the risk and magnitude of premature mortality in children vary considerably across study settings. We conducted a systematic review to estimate the magnitude of premature mortality following childhood-onset NI worldwide and to summarize known risk factors and causes of death. We searched various databases for published studies from their inception up to 31st October 2020. Read More

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Our reasons for converting to valproic acid treatment in female patients with genetic generalized epilepsy: a retrospective, single-centre study.

Neurol Sci 2021 Apr 23. Epub 2021 Apr 23.

Department of Neurology, Clinical Neurophysiology, Faculty of Medicine, Dokuz Eylul University, İzmir, Turkey.

Introduction And Aim: Valproic acid (Na valproate) is a broad-spectrum anti-seizure medication used in children and adolescents. It is thought to have fewer adverse effects; however, recent studies have restricted its use in women of reproductive age due to the teratogenic impacts on cognition. Although alternative drugs have been used to treat patients in clinical follow-up, some patients have to return to using valproic acid. Read More

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Chronic loss of inhibition in piriform cortex following brief, daily optogenetic stimulation.

Cell Rep 2021 Apr;35(3):109001

Department of Neurobiology, Duke University Medical School, Durham, NC 27705, USA. Electronic address:

It is well established that seizures beget seizures, yet the cellular processes that underlie progressive epileptogenesis remain unclear. Here, we use optogenetics to briefly activate targeted populations of mouse piriform cortex (PCx) principal neurons in vivo. After just 3 or 4 days of stimulation, previously subconvulsive stimuli trigger massive, generalized seizures. Read More

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Origin of post-ictal and post-anesthesia adverse effects and possibly of SUDEP.

Med Hypotheses 2021 Apr 9;151:110591. Epub 2021 Apr 9.

Physics Dept., Sami Shamoon College of Engineering, Beer-Sheva, Israel.

The origin of post-ictal malfunctions is debatable. We want to propose a novel idea of a cause of these adverse results occurring following epileptic seizures and anesthesia. Previously we have put forward the idea that epileptic seizures termination is caused by the function of the glymphatic system in the brain. Read More

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