128,824 results match your criteria Seizures

Predicting outcome of patients with psychogenic nonepileptic seizures after diagnosis in an epilepsy monitoring unit.

Epilepsy Behav 2021 May 10;120:108004. Epub 2021 May 10.

Department of Clinical Neurological Sciences, Western University, London, Ontario, Canada; Psychology, Western University, London, Ontario, Canada.

Objective: To identify predictors of Psychogenic NonEpileptic Seizure (PNES) improvement and anti-seizure medication (ASM) discontinuation in patients with PNES only.

Methods: This is a retrospective study of a consecutively enrolled cohort of 271 patients diagnosed with PNES by video-EEG (vEEG) telemetry in our Epilepsy Monitoring Unit (EMU) between May 2000 and February 2010. Patients with any possibility of past or present comorbid epilepsy based on clinical, EEG, and neuroimaging, or less than one year of follow-up after discharge were excluded. Read More

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Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Invest Ophthalmol Vis Sci 2021 May;62(6):15

University of Washington, Department of Ophthalmology, Seattle, Washington, United States.

Purpose: Children with cerebral visual impairment (CVI) often have abnormal visual orienting behaviors due to impaired or damaged visual cortex. Alternatively, visual-cortical function is intact but visual information is not transformed downstream into an appropriate oculomotor output (visuomotor dysfunction). We examined visual, anatomic, and oculomotor assessments to distinguish visuomotor dysfunction from CVI associated with severely reduced visual-cortical response. Read More

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Anesthetic Management of a Child With Propionic Acidemia Complicated by Bacteremia and Severe Acute Respiratory Syndrome Coronavirus 2.

J Med Cases 2021 Apr 8;12(4):152-156. Epub 2021 Feb 8.

Department of Anesthesiology and Critical Care, Saint Louis University Hospital, 1201 S. Grand Boulevard, St. Louis, MO 63104, USA.

Propionic acidemia (PA) is a rare, multi-systemic inborn error of metabolism. PA results from an impaired activity of the mitochondrial enzyme, propionyl-CoA carboxylase (PCC). PCC holds an essential role in the catabolic pathways for odd-chain fatty acids, cholesterol side-chains and branched-chain amino acids. Read More

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Epilepsy and episodic ataxia type 2: family study and review of the literature.

J Neurol 2021 May 13. Epub 2021 May 13.

Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Udine, Italy.

Episodic ataxia type 2 (EA2) is a hereditary disorder characterized by paroxysmal attacks of ataxia, vertigo and nausea, due to mutations in the CACNA1A gene, which encodes for α1 subunit of the P/Q-type voltage-gated Ca channel (CaV2.1). Other manifestations may be associated to CACNA1A mutations, such as migraine and epilepsy. Read More

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Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.

Epilepsia 2021 May 13. Epub 2021 May 13.

Department of Biological Sciences, Hunter College of City University of New York, New York, New York, USA.

Objective: Fibroblast growth factor homologous factors (FHFs) are brain and cardiac sodium channel-binding proteins that modulate channel density and inactivation gating. A recurrent de novo gain-of-function missense mutation in the FHF1(FGF12) gene (p.Arg52His) is associated with early infantile epileptic encephalopathy 47 (EIEE47; Online Mendelian Inheritance in Man database 617166). Read More

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The well responsiveness of drug-resistant focal seizures in anti-AMPA2 receptor encephalitis to perampanel treatment.

Neurol Sci 2021 May 12. Epub 2021 May 12.

Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, Shandong, China.

Anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor encephalitis is an anti-neuronal surface antigen autoimmune encephalitis and is relatively rare. Our study evaluated a patient who developed anti-AMPA2 receptor encephalitis with memory deficits and refractory focal seizures as paroxysmal jerking on right face as well as dystonic seizure on right hand. On this patient, the combination treatment of levetiracetam, carbamazepine, and clonazepam, monthly periodic intravenous immunoglobin and immunosuppressive therapies for 5 months was not effective for the focal seizures, while his memory loss was slightly improved. Read More

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Complexities of pyridoxine response in PNPO deficiency.

Epilepsy Behav Rep 2021 3;16:100443. Epub 2021 Apr 3.

Pediatric Neurology, Department of Pediatrics, Kalawati Saran Children's Hospital, Delhi, India.

Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Read More

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ST-segment elevation myocardial infarction with normal coronary arteries secondary to anterior communicating cerebral artery aneurysmal rupture: a case report.

Eur Heart J Case Rep 2021 May 5;5(5):ytab168. Epub 2021 May 5.

Department of Cardiology, Kettering General Hospital, NHS, Rothwell Road, Kettering, NN16 8UZ, UK.

Background: Myocardial infarction (MI) with non-obstructive coronary arteries presenting with ST-segment elevation can be challenging. Understanding the cardiac and non-cardiac causes aid in identifying the underlying diagnosis and deciding on the management. Neurological insult resulting in a mismatch of oxygen supply or demand to cardiomyocytes can lead to type 2 MI. Read More

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Hypoparathyroidism Masquerading as Corticobasal Syndrome.

Mov Disord Clin Pract 2021 May 3;8(4):600-603. Epub 2021 Apr 3.

Center for Parkinson's Disease and Movement Disorders Clinic Vikram Hospitals Bangalore India.

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Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion.

Cureus 2021 Apr 10;13(4):e14402. Epub 2021 Apr 10.

Neurology, Universidad San Francisco de Quito, Quito, ECU.

Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis. We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Read More

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Laparoscopic gynaecological surgery in the context of maintaining normal intracranial pressure.

BMJ Case Rep 2021 May 12;14(5). Epub 2021 May 12.

Epworth Hospital, Richmond, Victoria, Australia.

A nulliparous patient in her early 20s was referred to a fertility specialist for fertility preservation, before commencing chemo-radiation therapy for a recently diagnosed malignant brain tumour. Two weeks prior, she had presented with seizures and undergone emergency craniotomy and tumour resection. Taking into consideration of the tight time frame and her comorbidities, several measures were undertaken to minimise the potential increase in intracranial pressure that may lead to cerebral oedema during laparoscopy. Read More

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Psychiatric and cognitive characteristics of older adults admitted to a Video-EEG monitoring (VEM) unit.

Epilepsy Behav 2021 May 9;120:107987. Epub 2021 May 9.

Department of Medicine (RMH), The University of Melbourne, Australia; Department of Neurology, Royal Melbourne Hospital, Parkville, Australia; Melbourne School of Psychological Sciences, The University of Melbourne, Australia.

Objective: To compare the clinical, psychiatric, and cognitive characteristics of older with younger patients presenting to a video-EEG monitoring (VEM) unit.

Method: This was a retrospective case-control study involving patients admitted for VEM over a two-year period (from April 2018 to April 2020) at two comprehensive epilepsy units. Patients were categorized into an older (≥60 years) and a younger (<60 years) group. Read More

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Is severe head injury associated with functional (psychogenic) seizures?

Seizure 2021 May 1;89:38-40. Epub 2021 May 1.

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

Objectives: The aim of the current study was to compare the frequency of significant head injuries in three groups of people with seizures [idiopathic generalized epilepsies (IGE) vs. temporal lobe epilepsy (TLE) vs. functional seizures (FS)]. Read More

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Neurosci Lett 2021 May 9:135948. Epub 2021 May 9.

Neuroscience Program, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil; Department of Pharmacology, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address:

Introduction: Epilepsy is a common pathological condition that predisposes individuals to seizures, as well as cognitive and emotional dysfunctions. Different studies have demonstrated that inflammation contributes to the pathophysiology of epilepsy. Indeed, seizures change the peripheral inflammatory pattern, which, in turn, could contribute to seizures. Read More

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

Am J Hum Genet 2021 May 5. Epub 2021 May 5.

de Duve Institute, UCLouvain, 1200 Brussels, Belgium. Electronic address:

We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-sugars synthesis and ensuing glycosylation reactions. Read More

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Neural recruitment by ephaptic coupling in epilepsy.

Epilepsia 2021 May 12. Epub 2021 May 12.

Neural Engineering, Department of Biomedical Engineering, Case Western Reserve University, Cleveland, Ohio, USA.

Objective: One of the challenges in treating patients with drug-resistant epilepsy is that the mechanisms of seizures are unknown. Most current interventions are based on the assumption that epileptic activity recruits neurons and progresses by synaptic transmission. However, several experimental studies have shown that neural activity in rodent hippocampi can propagate independently of synaptic transmission. Read More

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Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder.

Epilepsia 2021 May 12. Epub 2021 May 12.

NYU Langone Medical Center, New York, NY, USA.

CDKL5 deficiency disorder (CDD) is an X-linked pharmacoresistant neurogenetic disorder characterized by global developmental delays and uncontrolled seizures. Fenfluramine (FFA), an antiseizure medication (ASM) indicated for treating convulsive seizures in Dravet syndrome, was assessed in six patients (five female; 83%) with CDD whose seizures had failed 5-12 ASMs or therapies. Median age at enrollment was 6. Read More

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Neurogenesis is Enhanced in Young Rats with Genetic Absence Epilepsy: An Immuno-electron Microscopic Study.

Turk Neurosurg 2020 Dec 22. Epub 2020 Dec 22.

Marmara University School of Medicine, Department of Histology and Embryology, IstanbuI, Turkey.

Aim: Neurogenesis is an age-related process that is closely associated with neurological disorders. In the present study, we aimed to investigate neurogenesis in both adult and 3-week-old genetic absence epilepsy rats from Strasbourg (GAERS) to determine if newly formed neurons within the dentate gyrus (DG) form synaptic contacts with GABAergic (gamma aminobutyric acid) and glutamatergic nerve terminals and compared to the control (non-GAERS) Wistar rats.

Material And Methods: Brain tissue was processed for electron microscopic assessment. Read More

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December 2020

Cerebral venous sinus thrombosis and subdural hematoma in a female patient with systemic lupus erythematosus: a case report and literature review.

Ann Palliat Med 2021 Apr 26. Epub 2021 Apr 26.

Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, China.

Cerebral venous sinus thrombosis (CVST) and subdural hematoma (SDH) are extremely rare in patients with systemic lupus erythematosus (SLE), and when conditions are severe, it can endanger the life of the patients. We report a case of a 44-year-old woman who was admitted to our hospital due to multiple paroxysmal headaches, dizziness, and seizures for 20 days. In the past 2 years, she had severe thrombocytopenia. Read More

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Intracerebroventricular delivery of vascular endothelial growth factor in patients with amyotrophic lateral sclerosis, a phase I study.

Brain Commun 2020 29;2(2):fcaa160. Epub 2020 Sep 29.

Department of Neurosciences, KU Leuven - University of Leuven, Leuven, Belgium.

We studied the feasibility, safety, tolerability and pharmacokinetics of intracerebroventricular delivery of recombinant human vascular endothelial growth factor in patients with amyotrophic lateral sclerosis. In this phase I study in patients with amyotrophic lateral sclerosis, the study drug was delivered using an implantable programmable pump connected to a catheter inserted in the frontal horn of the lateral cerebral ventricle. A first cohort received open label vascular endothelial growth factor (0. Read More

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September 2020

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.

Neurol Genet 2021 Feb 12;7(1):e553. Epub 2021 Jan 12.

Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri.

Objective: To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.

Methods: Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings.

Results: CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (), which encodes a vesicular membrane fusion protein. Read More

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February 2021

A founder mutation in the gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.

JIMD Rep 2021 May 23;59(1):32-41. Epub 2021 Feb 23.

Centre de recherche CHU de Québec- Université Laval, Laval University Québec Québec Canada.

Pyridoxine-dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to vitamin B6 treatment. Whole exome sequencing of three unrelated families identified homozygous pathogenic mutation c. Read More

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Auto-brewery syndrome caused by oral fungi and periodontal disease bacteria.

Acute Med Surg 2021 Jan-Dec;8(1):e652. Epub 2021 May 3.

Department of Central Clinical Laboratory Iwate Medical University Hospital Morioka Japan.

Background: Auto-brewery syndrome (ABS) is often caused by fungi in the intestinal tract. We describe a rare case of alcohol production by and periodontal disease bacteria in the oral cavity.

Case Presentation: A man aged in his 60s had a car accident, and alcohol was detected on his breath. Read More

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Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.

Case Rep Neurol 2021 Jan-Apr;13(1):211-217. Epub 2021 Mar 22.

Department of Neurology, Akita National Hospital, National Hospital Organization, Yurihonjo, Japan.

We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration. Read More

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Frontotemporal Dementia with Parkinsonism and Epilepsy Associated with VGKC Antibodies: Case Report and Literature Review.

Case Rep Neurol 2021 Jan-Apr;13(1):205-210. Epub 2021 Mar 19.

Department of Neurology, Royal Cornwall Hospitals NHS Trust, Truro, United Kingdom.

Antibodies directed against the voltage-gated potassium channel complex (anti-VGKCs) are implicated in several autoimmune conditions including limbic encephalitis and epilepsy. However, emerging evidence suggests that only specific subtypes of anti-VGKCs are pathogenic. We present the case of a 55-year-old man who initially presented with focal unaware seizures and behavioural changes mimicking anti-VGKC-seropositive encephalitis that further progressed to parkinsonism with evidence of frontotemporal dementia and pre-synaptic dopaminergic deficit. Read More

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Cerebral Venous Thrombosis Associated with COVID-19 Infection: An Observational, Multicenter Study.

Cerebrovasc Dis Extra 2021 May 11;11(2):55-60. Epub 2021 May 11.

Rashid Hospital, Dubai, United Arab Emirates.

Background And Purpose: Coronavirus disease 2019 (CO-VID-19) has an increased propensity for systemic hypercoagulability and thromboembolism. An association with cerebrovascular diseases, especially cerebral venous thrombosis (CVT), has been reported among these patients. The objective of the present study was to identify risk factors for CVT as well as its presentation and outcome in COVID-19 patients. Read More

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Costs of Epilepsy in Austria: Unemployment as a primary driving factor.

Seizure 2021 Apr 30;89:24-29. Epub 2021 Apr 30.

Klinik Hietzing and Karl Landsteiner Institute for Clinical Epilepsy Research and Cognitive Neurology, Vienna, Austria.

Purpose: Epilepsy is one of the most common chronic neurological disorders, and long-term treatment with antiseizure medication is often central to its management. The costs of antiseizure medication are more evident than other disease-related costs; thus, we assessed the direct and indirect costs of epilepsy focusing on both drug expenditure and other cost-driving factors.

Methods: Outpatient records and questionnaires applied in a tertiary epilepsy centre in Vienna were used in this bottom-up cost-of-illness study to evaluate disease duration, age at onset, epilepsy syndrome, seizure frequency, sex, healthcare utilisation, diagnostic evaluations, antiseizure medication, and occupation. Read More

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Treatment of epilepsy for people with Alzheimer's disease.

Cochrane Database Syst Rev 2021 May 11;5:CD011922. Epub 2021 May 11.

Department of Geriatric Neurology, Chinese PLA General Hospital, Beijing, China.

Background: Any type of seizure can be observed in Alzheimer's disease. Antiepileptic drugs seem to prevent the recurrence of epileptic seizures in most people with Alzheimer's disease. There are pharmacological and non-pharmacological treatments for epilepsy in people with Alzheimer's disease, however there are no current systematic reviews to evaluate the efficacy and tolerability of these treatments. Read More

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Rapid-acting antidepressants and the regulation of TrkB neurotrophic signalling - insights from ketamine, nitrous oxide, seizures, and anaesthesia.

Basic Clin Pharmacol Toxicol 2021 May 10. Epub 2021 May 10.

Laboratory of Neurotherapeutics, Drug Research Program, Division of Pharmacology and Pharmacotherapy, Faculty of Pharmacy, University of Helsinki, Finland.

Increased glutamatergic neurotransmission and synaptic plasticity in the prefrontal cortex have been associated with the rapid antidepressant effects of ketamine. Activation of BDNF (brain-derived neurotrophic factor) receptor TrkB is considered a key molecular event for antidepressant-induced functional and structural synaptic plasticity. Several mechanisms have been proposed to underlie ketamine's effects on TrkB, but much remains unclear. Read More

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