A5041159807- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Genomic variations and chromosomal abnormalities
- Ion channel regulation and function
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Diet and metabolism studies
- Ion Transport and Channel Regulation
- Fetal and Pediatric Neurological Disorders
- Lysosomal Storage Disorders Research
- Cardiac electrophysiology and arrhythmias
- RNA and protein synthesis mechanisms
- Cellular transport and secretion
- Neurological disorders and treatments
- Congenital heart defects research
- Language Development and Disorders
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- RNA regulation and disease
- RNA modifications and cancer
- Infectious Encephalopathies and Encephalitis
Florey Institute of Neuroscience and Mental Health
2016-2025
The University of Melbourne
2016-2025
Murdoch Children's Research Institute
2012-2025
Austin Health
2016-2025
Royal Children's Hospital
2016-2025
Victorian Clinical Genetics Services
2008-2025
Austin Hospital
2007-2025
University College London
1991-2024
Great Ormond Street Hospital
1990-2024
West Virginia University
2024
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, approaches for classifying seizures forms of epilepsy. Generalized focal are redefined as occurring in rapidly engaging bilaterally distributed networks (generalized) within limited to one hemisphere either discretely localized or more widely (focal). generalized is simplified. No natural classification exists; should be described according their manifestations...
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...
The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. purpose such revision is to recognize that some types can have either focal or generalized onset, allow when the onset unobserved, include missing types, and adopt more transparent names. Because current knowledge insufficient form scientifically based classification, 2017 Classification (practical) on 1981 Classification, extended in 2010. Changes following: (1) "partial" becomes...
The Dravet syndrome is a complex childhood epilepsy disorder that associated with drug-resistant seizures and high mortality rate. We studied cannabidiol for the treatment of in syndrome.In this double-blind, placebo-controlled trial, we randomly assigned 120 children young adults to receive either oral solution at dose 20 mg per kilogram body weight day or placebo, addition standard antiepileptic treatment. primary end point was change convulsive-seizure frequency over 14-week period, as...
Summary This companion paper to the introduction of International League Against Epilepsy ( ILAE ) 2017 classification seizure types provides guidance on how employ classification. Illustration is enacted by tables, a glossary relevant terms, mapping old new suggested abbreviations, and examples. Basic extended versions are available, depending desired degree detail. Key signs symptoms seizures (semiology) used as basis for categories that focal or generalized from onset with unknown onset....
The clinical and genetic relationships of febrile seizures the generalized epilepsies are poorly understood. We ascertained a family with genealogical information in 2000 individuals where there was an unusual concentration epilepsy one part pedigree. first clarified complex consanguineous earlier generations then systematically studied phenotypes affected individuals. In branch (core family) 25 over four were affected. commonest phenotype, denoted as 'febrile plus' (FS+), comprised...
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 relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in sodium channel alpha 1 subunit gene SCN1A is well established. To explore phenotypic variability associated mutations, 188 patients a range epileptic encephalopathies were examined for sequence variations by denaturing high performance liquid chromatography sequencing. All had seizure onset within first 2 years life. A higher proportion...
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...
The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group five families from Australia, Britain Canada, containing 47 affected individuals, was studied. largest family contained 25 individuals spanning six generations. This characterized by clusters brief motor seizures, with hyperkinetic or tonic manifestations. Subjects often experienced an aura, remained aware throughout the attacks....
KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a mutation more severe outcome exist, but definite relationship has not been established. In this study we investigated whether KCNQ2/3 frequent cause of epileptic encephalopathies an early onset recognizable phenotype exists.We analyzed 80 unexplained or early-infantile associated psychomotor retardation mutations. Clinical imaging data were reviewed in...