4,662 results match your criteria generalized tonic-clonic

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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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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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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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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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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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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A Case of Generalized Seizure after Toxic Epidermal Necrolysis.

Ann Dermatol 2020 Aug 30;32(4):334-336. Epub 2020 Jun 30.

Department of Dermatology, Chosun University College of Medicine, Gwangju, Korea.

Toxic epidermal necrolysis (TEN) is a severe mucocutaneous adverse reaction characterized by extensive necrosis and epidermal detachment involving more than 30% of the body surface area (BSA). It is commonly triggered by antiepileptics, sulfonamide antibiotics, and non-steroidal anti-inflammatory drugs. A 22-year-old female without any underlying medical history presented with painful multiple erythematous bullae and plaques of varied sizes throughout the body for 1 day. Read More

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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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CB2 receptors modulate seizure-induced expression of pro-inflammatory cytokines in the hippocampus but not neocortex.

Mol Neurobiol 2021 Apr 27. Epub 2021 Apr 27.

Institute of Higher Nervous Activity and Neurophysiology, Russian Academy of Sciences, Moscow, Russia.

We compared neuroinflammatory responses induced by nonconvulsive and convulsive seizures and analyzed the role that may be played by cannabinoid CB2 receptors in the neuroinflammatory response induced by generalized tonic-clonic seizures (GTCS). Using quantitative PCR, we analyzed expression of interleukin-1b, CCL2, interleukin-6, tumor necrosis factor (TNF), transforming growth factor beta 1 (TGFb1), fractalkine, and cannabinoid receptor type 2 in the neocortex, dorsal and ventral hippocampus, cortical leptomeninges, dura mater, and spleen in 3 and 6 h after induction of GTCS by a high dose of pentylenetetrazole (PTZ, 70 mg/kg) and absence-like activity by a low dose of PTZ (30 mg/kg). The low dose of PTZ had no effect on the gene expression 3 and 6 h after PTZ injection. Read More

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[DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review].

Zhonghua Er Ke Za Zhi 2021 May;59(5):400-406

Department of Pediatrics, Hunan Intellectual and Developmental Disabilities Research Center, Xiangya Hospital of Central South University, Changsha 410008, China.

To investigate the clinical characteristics of R403C variant in DNM1L gene caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1). The clinical data of three patients, who carried R403C variant in the DNM1L gene, diagnosed at Xiangya Hospital from February 2018 to February 2020 were retrospectively summarized. Literature reviewing was performed by taking "DNM1L" or "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1" as keywords for searching in online Mendelian inheritance in man (OMIM), PubMed, China national knowledge infrastructure (CNKI), and Wanfang data knowledge service platform up to July 2020. 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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Delayed Gemcitabine-Induced Posterior Reversible Encephalopathy Syndrome.

Am J Med Sci 2020 Nov 10. Epub 2020 Nov 10.

Cancer Center and Research Institute, University of Mississippi Medical Center Guyton Research Building, MS, United States. Electronic address:

Introduction: Posterior reversible encephalopathy syndrome (PRES) is a rare clinical-radiographic syndrome that has been expanding rapidly in the world of clinical medical oncology and hematology. In this article, we provide a unique patient case of delayed gemcitabine-induced PRES.

Brief Case Report: A 60-year-old African American female with significant past medical history of ER+/PR+/HER2- invasive ductal carcinoma of the left breast is seen in the medical oncology clinic with vague, mild complaints of lightheadedness. Read More

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November 2020

Successful Mechanical Thrombectomy for Basilar Artery Occlusion in a Seven-Year-Old Male.

Cureus 2021 Mar 17;13(3):e13950. Epub 2021 Mar 17.

Department of Neurology, University of Toledo, Toledo, USA.

Acute arterial strokes in children are rare but can potentially cause lasting and often permanent neurological deficits. Mechanical thrombectomy has a well-established efficacy and safety profile in adult stroke management, but in the pediatric population, it is yet to be proven efficacious and safe. We present a case of a seven-year-old male who presented with multiple episodes of generalized tonic-clonic seizures after sustaining a neck injury by falling from a trampoline. Read More

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Choroid plexus carcinoma in an adolescent male: a case report.

J Med Case Rep 2021 Apr 21;15(1):184. Epub 2021 Apr 21.

Department of Paediatrics, Jawaharlal Nehru Medical College, Sawangi (Meghe), Wardha, Maharashtra, 442001, India.

Introduction/background: Although central nervous system tumors are the most common etiology of malignancies in the pediatric age group, choroid plexus carcinomas are rare, with an annual incidence rate of 0.10 per 100,000 children.

Case Presentation: We report the case of an adolescent male belonging to central India who had presented with a history of persistent headache, projectile vomiting, neck stiffness, and an episode of generalized tonic-clonic seizure. Read More

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Atrophy in the Left Amygdala Predicted Drug Responses in Idiopathic Generalized Epilepsy Patients With Tonic-Clonic Seizures.

Front Neurosci 2021 31;15:640016. Epub 2021 Mar 31.

Department of Radiology, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing, China.

We aimed to determine the alterations in the subcortical structures of patients with idiopathic generalized epilepsy with tonic-clonic seizures (IGE-GTCS) MRI volumetry and vertex-based shape analysis and to evaluate the relationships between MRI measures and drug responses. In a follow-up sample of 48 patients with IGE-GTCS and 48 matched normal controls (NCs), high-resolution 3D TWI was performed at baseline. After 1 year of follow-up, 31 patients were classified as seizure free (SF) and 17 as drug resistant (DR). Read More

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Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.

Neurol Sci 2021 Apr 18. Epub 2021 Apr 18.

2nd Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi Street 1, 54636, Thessaloniki, Greece.

Introduction: Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an adult onset leukodystrophy, causally related to mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We report the unique case of a Greek HDLS patient, demonstrating an unusual phenotype, reminiscent of primary progressive aphasia (PPA).

Methods: A 63-year-old woman was referred with a 2-year history of deteriorating language and memory deficits, apathy, and two generalized tonic-clonic seizures. Read More

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Seizure and Interictal Electroencephalographic (EEG) Changes with Cannabinoid Concentrate Use.

Am J Case Rep 2021 Apr 18;22:e931360. Epub 2021 Apr 18.

Department of Neurology, University of California San Francisco (UCSF), San Francisco, CA, USA.

BACKGROUND The electroencephalographic (EEG) findings associated with tetrahydrocannabinol (THC) use, particularly in concentrated form, are not well-described, despite the current widespread availability of these products. There is a lack of prior research describing the EEG findings in adolescent cannabis users, and the effects of THC on the seizure threshold have been variably reported. CASE REPORT A 17-year-old girl with no prior history of seizures or known seizure risk factors presented to an Emergency Department with acutely abnormal behavior in the setting of daily vaping of highly concentrated THC marijuana ("wax"). Read More

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COVID-19-related refractory status epilepticus with the presence of SARS-CoV-2 (RNA) in the CSF: a case report.

Neurol Sci 2021 Apr 15. Epub 2021 Apr 15.

Department of Infectious Disease, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Amongst the neurologic complications of COVID-19 disease, very few reports have shown the presence of the virus in the cerebrospinal fluid (CSF). Seizure and rarely status epilepticus can be associated with COVID-19 disease. Here we present a 73-year-old male with prior history of stroke who has never experienced seizure before. Read More

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Population pharmacokinetics of oxcarbazepine: a systematic review.

Expert Rev Clin Pharmacol 2021 Apr 14. Epub 2021 Apr 14.

Department of Pharmacy, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.

Introduction: Oxcarbazepine is commonly used as first-line treatment for partial and generalized tonic-clonic seizures. Owing to the high pharmacokinetic variability, several population pharmacokinetic models have been developed for oxcarbazepine to explore potential covariates that affect its pharmacokinetic variation.

Areas Covered: This review summarises the published population pharmacokinetic studies of oxcarbazepine in children and adults available in PubMed and Embase databases. Read More

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Clinical Variability of -Associated Early-Onset Parkinsonism.

Front Neurol 2021 25;12:648457. Epub 2021 Mar 25.

Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, CIC Neurosciences, Paris, France.

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, , and cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, including , and , cause rarer, more severe diseases with a poor response to levodopa, generally with additional atypical features. Read More

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Distribution of the Cannabinoid Receptor Type 1 in the Brain of the Genetically Audiogenic Seizure-Prone Hamster GASH/Sal.

Front Behav Neurosci 2021 24;15:613798. Epub 2021 Mar 24.

Institute of Neurosciences of Castilla y León, University of Salamanca, Salamanca, Spain.

The endocannabinoid system modulates epileptic seizures by regulating neuronal excitability. It has become clear that agonist activation of central type I cannabinoid receptors (CB1R) reduces epileptogenesis in pre-clinical animal models of epilepsy. The audiogenic seizure-prone hamster GASH/Sal is a reliable experimental model of generalized tonic-clonic seizures in response to intense sound stimulation. Read More

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Health-related quality of life in pediatric patients with partial onset seizures or primary generalized tonic-clonic seizures receiving adjunctive perampanel.

Epilepsy Behav 2021 Apr 8;118:107938. Epub 2021 Apr 8.

Eisai Inc., Woodcliff Lake, NJ, USA.

Rationale: Study 311 (E2007-G000-311; NCT02849626) was a Phase 3, multicenter, open-label single-arm study of adjunctive perampanel oral suspension in pediatric patients (aged 4 to <12 years) with partial-onset seizures (POS) (with/without secondarily generalized tonic-clonic seizures [SGTCS]) or primary generalized tonic-clonic seizures (PGTCS). Health-related quality of life (HRQoL) was an exploratory endpoint initially analyzed through simple descriptive summaries. The aim of this post hoc analysis was to provide a more thorough assessment of HRQoL. Read More

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A Case of -Associated Neurodegeneration with Frequent Myoclonus And Generalized Onset Tonic-Clonic Seizures: Successful Treatment with Zonisamide.

J Clin Neurol 2021 Apr;17(2):319-321

Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, Seoul, Korea.

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[Efficacy and tolerability of perampanel as adjunctive treatment of focal and generalized tonic-clonic epileptic seizures in children over 4 years of age].

E D Belousova

Zh Nevrol Psikhiatr Im S S Korsakova 2021 ;121(3):116-120

Veltischev Research Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia.

The article is a short review of an observational study that proves the good efficacy and tolerability of perampanel suspension in the adjunctive treatment of epilepsy in children over 4 years of age. The study demonstrated a high level of 50% responders: 47% with focal seizures, 65% with transition of focal seizures to bilateral tonic-clonic seizures, 65% with primary generalized tonic-clonic seizures. Cessation of seizures was achieved in 12%, 19% and 55% of patients, respectively. Read More

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Risk of Fractures and Other Injuries in Children Treated with Antiseizure Medications for Epilepsy.

Calcif Tissue Int 2021 Apr 7. Epub 2021 Apr 7.

Department of Medicine (RMH), University of Melbourne, Melbourne, VIC, Australia.

This study aimed to investigate the prevalence of fractures and non-fracture injuries, including associated risk factors, in children with epilepsy prescribed antiseizure medications (ASM). A controlled, cross-sectional study was conducted in a hospital outpatient setting, comparing children with epilepsy prescribed ASMs with their non-epileptic siblings. Information was collected by questionnaire included history of fractures, non-fracture injuries and epilepsy, comorbidities and ASM use. Read More

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Case Report: Anti-NMDA Receptor Encephalitis With Bilateral Hearing Loss as the Initial Symptom.

Front Neurol 2021 17;12:648911. Epub 2021 Mar 17.

Jincheng People's Hospital Affiliated to Shanxi Medical University, Jincheng, China.

Anti--methyl-D-aspartate receptor (anti-NMDAR) encephalitis is an autoimmune disease associated with the NMDA receptor. This paper describes a patient who presented with bilateral hearing loss as the initial symptom of anti-NMDAR encephalitis. We describe a 31-year-old young female with anti-NMDAR encephalitis who presented with bilateral severe hearing loss after brief loss of consciousness and then accompanied by other symptoms, such as generalized tonic-clonic seizures, manic episodes, excessive salivation, severe cognitive impairment, and complex non-convulsive status epilepticus. Read More

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Essential oil related seizures (EORS): A multi-center prospective study on essential oils and seizures in adults.

Epilepsy Res 2021 Mar 26;173:106626. Epub 2021 Mar 26.

Department of Neurology, St. John's Medical College Hospital, Sarjapura Road, Bengaluru, Karnataka, 560034, India.

Objective: Essential oils (EOs) like eucalyptus and camphor have pro-convulsant properties. These EOs are present in many over- the- counter balms and oils. The effect of exposure to these EOs and occurrence of seizure is not systematically studied. Read More

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[Clinical and paramedical features of epilepsy in children at the Ziguinchor Peace Hospital: a documentation review].

Pan Afr Med J 2020 30;37:387. Epub 2020 Dec 30.

Université Cheikh Anta Diop de Dakar, Hôpital d´Enfants Albert Royer de Dakar, Dakar, Sénégal.

Epilepsy poses a public health problem in Senegal. The purpose of the study was to describe the clinical and paramedical features of epilepsy in children at the Ziguinchor Peace Hospital (ZPH). We conducted a literature review of the medical records of children with epilepsy, from January 1, 2015 to December 31, 2018. Read More

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Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.

Brain Dev 2021 Jun 27;43(6):688-697. Epub 2021 Mar 27.

Department of Neurological Sciences, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Rome, Italy. Electronic address:

Objective: Our goal was to investigate the long-term clinical course of juvenile myoclonic epilepsy (JME) in a cohort of patients and to identify prognostic factors for refractoriness and seizure relapse after anti-seizure medications (ASMs) withdrawal. A literature review is also presented to consolidate and compare our findings with the previously reported cases.

Methods: We retrospectively studied a series of patients diagnosed with JME with 15 years or more of evolution. Read More

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