A5003148807- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Muscle Physiology and Disorders
- HIV Research and Treatment
- Peripheral Neuropathies and Disorders
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Genomics and Rare Diseases
- HIV-related health complications and treatments
- Pharmaceutical studies and practices
- HIV/AIDS Research and Interventions
- Diet and metabolism studies
- Bacterial Infections and Vaccines
- Infectious Diseases and Tuberculosis
- Obsessive-Compulsive Spectrum Disorders
- Infectious Encephalopathies and Encephalitis
- Adolescent and Pediatric Healthcare
- Autism Spectrum Disorder Research
- EEG and Brain-Computer Interfaces
- Global Health and Surgery
- Neurological diseases and metabolism
- Neuroscience and Neuropharmacology Research
University of Cape Town
2016-2025
Red Cross War Memorial Children's Hospital
2016-2025
Media Working Group
2024
University of Rochester Medical Center
2023
American Academy of Neurology
2023
Massachusetts General Hospital
2023
Cincinnati Children's Hospital Medical Center
2023
Erasmus MC - Sophia Children’s Hospital
2023
Nationwide Children's Hospital
2023
Aga Khan University Nairobi
2023
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)...
Seizures are the most common neurological emergency in neonatal period and contrast to those infancy childhood, often provoked seizures with an acute cause may be electrographic-only. Hence, not fit easily into classification schemes for epilepsies primarily developed older children adults. A Neonatal Task Force was established by International League Against Epilepsy (ILAE) develop a modification of 2017 ILAE Classification Epilepsies, relevant neonates. The framework emphasizes role...
To provide information on the effect of coronavirus disease 2019 (COVID-19) pandemic people with epilepsy and consensus recommendations how to best possible care for while avoiding visits urgent facilities hospitalizations during novel pandemic.The authors developed statements in 2 sections. The first was "How should we/clinicians modify our clinical pathway COVID-19 pandemic?" second "What general advice we give this crisis? individually scored a scale -10 (strongly disagree) +10 agree)....
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...
Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation surgical candidacy can be life-saving who are identified as appropriate candidates, and may also enhance care nonsurgical candidates through improvement in diagnosis, optimization therapy, comorbidities. Yet, referral evaluations often delayed while palliative options pursued, significant adverse consequences due to increased morbidity mortality associated intractable epilepsy. The...
Centronuclear myopathy (CNM) is a rare congenital characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel implicated various myopathies. We investigated whether cause CNM.We sequenced entire coding sequence 24 patients diagnosis from South Africa (n = 14) Europe 10) identified 17 patients. The most...
Benzodiazepine-resistant status epilepticus is an ongoing clinical challenge. Burman et al. show that longer seizure duration a useful indicator of benzodiazepine resistance, and resistance caused by changes in GABAA receptor-mediated synaptic transmission. The findings could help optimise current management protocols.
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances genomic knowledge analysis platforms have begun to make clinical genetic testing accessible for, principle, people of all ages epilepsy. For this reason, Genetics Commission International League Against (ILAE) presents update on practice, including current techniques,...
Cerebral palsy is the most common cause of physical disability in children worldwide. However, little reported on this condition African context. Doctors from 22 countries Africa, and representatives a further 5 outside met to discuss challenges evaluation management with cerebral Africa propose service needs research. Basic care limited by poor availability diagnostic facilities or medical personnel experience expertise managing palsy, exacerbated lack available interventions such as...