A5072614402- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Autoimmune Neurological Disorders and Treatments
- Neurological disorders and treatments
- Esophageal and GI Pathology
- Genomics and Rare Diseases
- Ion channel regulation and function
- EEG and Brain-Computer Interfaces
- Esophageal Cancer Research and Treatment
- Mitochondrial Function and Pathology
- Bacterial Infections and Vaccines
- Functional Brain Connectivity Studies
- Gastroesophageal reflux and treatments
- Attention Deficit Hyperactivity Disorder
- Infectious Encephalopathies and Encephalitis
- Eosinophilic Esophagitis
- Ion Transport and Channel Regulation
- Dysphagia Assessment and Management
- Genomic variations and chromosomal abnormalities
- Pharmaceutical Economics and Policy
University of Padua
2015-2025
Azienda Ospedaliera Carlo Poma
2015-2024
Fondazione Poliambulanza Istituto Ospedaliero
2019-2024
University of Genoa
2022
Cognitive Research (United States)
2022
European Medicines Agency
2019-2021
Meyer Children's Hospital
2016
Institute of Neurological Sciences
2013
Bambino Gesù Children's Hospital
2003-2007
Genethon (France)
2003
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding epilepsies and their underlying mechanisms following major scientific advances that have taken place since last ratified classification 1989. As a critical tool for practicing clinician, epilepsy must be relevant dynamic changes thinking, yet robust translatable all areas globe. Its primary purpose is diagnosis patients, but it also research, development...
国際抗てんかん連盟(ILAE)は,1989年の前回分類以降の大きな科学的進歩によっててんかんやその発症機序に関する理解が深まったことをうけ,今回てんかん分類を改訂するに至った。てんかん分類は臨床医に不可欠なツールとして,考え方の変化に関連し変動するものでなければならないが,同時に確固たるものでかつ全世界で翻訳可能なものでなければならない。てんかん分類の第一の目的は患者の診断であるが,てんかんの研究,治療法の開発,世界中のコミュニケーションにおいても重要である。今回の新たな分類は,パブリック・コメントを募集するために2013年に提出した初案に端を発しており,数回にわたる協議を経ててんかんに関わる世界各国の人々からの幅広い意見を組み込んで改訂されたものである。この分類には3つのレベルがある。最初のレベルは「発作型」診断であり,2017年ILAE発作分類の定義に基づいて患者がてんかん発作を有していることを前提としている。発作型診断の次のステップは「てんかん病型」診断であり,焦点てんかん,全般てんかん,全般焦点合併てんかん,病型不明てんかんのいずれかに分類される。3つ目のレベルは「てんか...
<b><i>Objectives:</i></b><i>SCN1A</i> mutations were recently reported in several patients with severe myoclonic epilepsy infancy (SMEI). The authors analyzed <i>SCN1A</i> 93 SMEI and made genotype-phenotype correlation to clarify the role of this gene etiology SMEI. <b><i>Methods:</i></b> All fulfilled criteria for all using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, sequenced patient both parents. <b><i>Results:</i></b><i>SCN1A</i>...
Summary People with epilepsy ( PWE s) are often advised against participating in sports and exercise, mostly because of fear, overprotection, ignorance about the specific benefits risks associated such activities. Available evidence suggests that physical exercise active participation may favorably affect seizure control, addition to producing broader health psychosocial benefits. This consensus paper prepared by International League Against Epilepsy ILAE ) Task Force on Sports offers...
Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% all epilepsies. Despite their high heritability 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out two-stage genome-wide association study (GWAS) including 3020 patients with 3954 controls European ancestry. dissect syndrome-related variants, also explored two distinct subgroups comprising 1434...
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. prominent in very rare epileptic encephalopathy due de novo CHD2 mutations, but also seen encephalopathies other gene mutations. We determined whether variation underlies photosensitivity common epilepsies, specific photosensitive epilepsies and individuals studied 580 epilepsy either seizures photoparoxysmal on...
Summary Purpose To dissect the genetics of benign familial epilepsies first year life and to assess extent genetic overlap between neonatal seizures ( BFNS ), neonatal‐infantile BFNIS infantile BFIS ). Methods Families with at least two first‐degree relatives affected by focal starting within normal development before seizure onset were included. classified as when all family members experienced seizures, in was 1 4 months age or showed both after members. SCN 2A, KCNQ 2, 3, PPRT 2 point...
Abstract Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need prompt diagnosis. Beyond etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) location of generator neurophysiological classification); particularly, knowing anatomical source...
The authors investigated immunomodulatory treatments in 15 patients with Rasmussen encephalitis (RE) (14 childhood and one adolescent onset RE). Positive time-limited responses were obtained 11 using variable combinations of corticosteroids, apheresis, high-dose IV immunoglobulins. Although surgical exclusion the affected hemisphere is only treatment that halts disease progression, immunomodulation can be considered when early surgery not feasible, late-onset slower few cases bilateral disease.
The detailed anatomy of the interatrial septum (IAS) and mitral annulus (MA) as observed on cardiac magnetic resonance, computed tomography two-dimensional/three-dimensional transthoracic transesophageal echocardiography is reviewed. IAS comprises two components: primum that membrane-like forming floor fossa ovalis (FO) secundum a muscular rim surrounds FO. latter an enfolding atrial wall groove. Named Waterston's groove, it filled with adipose tissue epicardial side. Thus, safest area for...
To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in severe myoclonic epilepsy infancy (SMEI).SMEI patients were recruited from different centers according to the following criteria: age > or =3 years; at least four tonic-clonic seizures/month during last 8 weeks; previous use two drugs. Levetiracetam was orally administrated starting dose approximately 10 mg/kg/day up 50 60 doses. Treatment period included a 5- 6-week up-titration phase 12-week evaluation phase....
Mutations in PRRT2 have been described paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD seizures), recently also some families benign familial seizures (BFIS) alone. We analyzed 49 three sporadic cases BFIS only of Italian, German, Turkish, Japanese origin identified the previously mutation c.649dupC an unstable series nine cytosines to occur 39 our one case (77% index cases). Furthermore, novel mutations were found other families, whereas 17% did...
Summary Purpose: Electroencephalography–functional magnetic resonance imaging (EEG‐fMRI) coregistration has recently revealed that several brain structures are involved in generalized spike and wave discharges (GSWDs) idiopathic epilepsies (IGEs). In particular, deactivations activations have been observed within the so‐called default mode network (DMN) thalamus, respectively. present study we analyzed dynamic time course of blood oxygen level–dependent (BOLD) changes preceding following 3...
Objective: To define the clinical spectrum and etiology of progressive myoclonic epilepsies (PMEs) in Italy using a database developed by Genetics Commission Italian League against Epilepsy. Methods: We collected laboratory data from patients referred to 25 epilepsy centers regardless whether positive causative factor was identified. PMEs undetermined origins were grouped 2-step cluster analysis. Results: 204 patients, including 77 with diagnosis Unverricht-Lundborg disease 37 Lafora body...