A5066978144- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- EEG and Brain-Computer Interfaces
- Genomics and Rare Diseases
- Infectious Encephalopathies and Encephalitis
- Glycogen Storage Diseases and Myoclonus
- Ion channel regulation and function
- Pharmaceutical studies and practices
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Infant Development and Preterm Care
- Fetal and Pediatric Neurological Disorders
- Neuroscience of respiration and sleep
- Neurological and metabolic disorders
- Autoimmune Neurological Disorders and Treatments
- Childhood Cancer Survivors' Quality of Life
- Bacterial Infections and Vaccines
- Autism Spectrum Disorder Research
- Psychosomatic Disorders and Their Treatments
- Attention Deficit Hyperactivity Disorder
Mayo Clinic
2016-2025
WinnMed
2016-2025
Mayo Clinic in Arizona
2014-2025
Mayo Clinic in Florida
2015-2024
Massachusetts General Hospital
2024
Aarhus University
2024
Louisiana State University
2024
Vanderbilt University Medical Center
2024
Aarhus University Hospital
2024
Centre Hospitalier Universitaire Sainte-Justine
2024
Cannabidiol has been used for treatment-resistant seizures in patients with severe early-onset epilepsy. We investigated the efficacy and safety of cannabidiol added to a regimen conventional antiepileptic medication treat drop Lennox–Gastaut syndrome, developmental epileptic encephalopathy.
Summary Ketogenic dietary therapies ( KDTs ) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline management children on KDT was published, focusing topics patient selection, pre‐ counseling and evaluation, diet choice attributes, implementation, supplementation, follow‐up, side events, discontinuation. It has been...
The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. KD provided differently throughout the world, with occasionally significant variations in its administration. There exists a need more standardized protocols and management recommendations clinical research use. In December 2006, Charlie Foundation commissioned panel comprised of 26 pediatric epileptologists dietitians from nine countries particular expertise using KD. This...
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification definition of epilepsy syndromes in the neonate infant with seizure onset up to 2 years age. incidence is high this age group frequently associated significant comorbidities mortality. licensing syndrome specific antiseizure medications following randomized controlled trials development precision, gene‐related therapies are two drivers defining electroclinical phenotypes...
Abstract The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although cannot be determined in all children epilepsy, of specific provides guidance on management and prognosis. In this paper, we describe childhood onset syndromes, most which have both mandatory seizure type(s) interictal electroencephalographic (EEG) features. Based Classification Seizures Epilepsies, some names been updated...
In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described "genetic generalized epilepsies" (GGEs), which contained "idiopathic (IGEs). The goal this paper is to delineate four syndromes comprising IGEs, namely childhood absence epilepsy, juvenile myoclonic and epilepsy with tonic-clonic seizures alone. We provide updated diagnostic criteria for these IGE determined by expert consensus opinion ILAE's Task Force on Nosology Definitions (2017-2021)...
To describe the detection frequency and clinical associations of immunoglobulin G (IgG) targeting dipeptidyl-peptidase-like protein-6 (DPPX), a regulatory subunit neuronal Kv4.2 potassium channels.Specimens from 20 patients evaluated on service basis by tissue-based immunofluorescence yielded synaptic immunostaining pattern consistent with DPPX-IgG (serum, 20; CSF, all 7 available). Transfected HEK293 cell-based assay confirmed DPPX specificity in specimens. Sixty-nine stiff-person syndrome...
Febrile infection-related epilepsy syndrome (FIRES) is a devastating epileptic encephalopathy with limited treatment options and an unclear etiology. Anakinra recombinant version of the human interleukin-1 receptor antagonist used to treat autoinflammatory disorders. This first report anakinra for child super-refractory status epilepticus secondary FIRES. was well tolerated effective. Cerebral spinal fluid analysis revealed elevated levels proinflammatory cytokines before that normalized on...
<h3>Objective:</h3> To evaluate a trial of immunotherapy as an aid to diagnosis in suspected autoimmune epilepsy. <h3>Method:</h3> We reviewed the charts 110 patients seen at our neurology clinic with seizures chief complaint. Twenty-nine met following inclusion criteria: (1) epilepsy based on presence ≥1 neural autoantibody (n = 23), personal or family history physical stigmata autoimmunity, and frequent medically intractable seizures; (2) initiated 6- 12-week IV methylprednisolone (IVMP),...
Objective Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early sustained response initial treatments addresses both clinical remission electrographic resolution hypsarrhythmia. Secondarily, it assesses whether differs by etiology or developmental status. Methods The National Spasms Consortium established multicenter, prospective database enrolling...
Fenfluramine treatment may reduce monthly convulsive seizure frequency in patients with Dravet syndrome who have poor control their current stiripentol-containing antiepileptic drug regimens.
<h3>Importance</h3> Efficacy of cannabidiol has been demonstrated in seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have established conditions primarily focal seizures, such as tuberous sclerosis complex (TSC). <h3>Objective</h3> To evaluate efficacy safety 25-mg/kg/day 50-mg/kg/day dosages vs placebo against TSC. <h3>Design, Setting, Participants</h3> This double-blind, placebo-controlled randomized clinical trial (GWPCARE6) enrolled patients between...
Epilepsy syndromes have been recognized for >50 years, as distinct electroclinical phenotypes with therapeutic and prognostic implications. Nonetheless, no formally accepted International League Against (ILAE) classification of epilepsy has existed. The ILAE Task Force on Nosology Definitions was established to reach consensus regarding which entities fulfilled criteria an syndrome provide definitions each syndrome. We defined "a characteristic cluster clinical electroencephalographic...
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age onset, based on expert consensus International League Against Epilepsy Nosology and Definitions Taskforce (2017-2021). We use language consistent with current accepted seizure classifications incorporate knowledge from advances in genetics, electroencephalography, imaging. Our aim delineating present at aid diagnosis guide investigations etiology treatments these patients.
Abstract Objective This study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis management of Dravet syndrome (DS), in the context recently approved, DS‐specific therapies emerging disease‐modifying treatments. Methods A core working group convened consisting six with recognized expertise DS two representatives Syndrome Foundation. summarized current literature (focused on clinical presentation, comorbidities, maintenance rescue...
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well milder phenotypes associated with genetic febrile seizures plus. Gain of function SCN1A are familial hemiplegic migraine type 3. Novel SCN1A-related have been described including early infantile developmental and epileptic encephalopathy movement disorder, more recently neonatal presentations arthrogryposis. Here we describe clinical, functional evaluation affected...
Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon framework established in 2017. This revision, informed by implementation experience, involved a working group appointed ILAE Executive Committee. Comprising 37 members from all regions, utilized modified Delphi process, requiring consensus threshold more than two thirds for any proposal. Following public comments, Committee seven additional experts to...
Summary: Data from a regional EEG laboratory allowed us to identify almost all children in Nova Scotia (population 850,000) with one or more unprovoked, afebrile seizures 1977 through 1985. We then reviewed hospital and pediatric neurology physician charts limit cases those two definite between the ages of 1 month 16 years. In all, 693 developed epilepsy: typical childhood absence (AS) (97), either generalized tonic‐clonic (GTCs) partial secondarily not (511), other seizure types, including...