Paediatric Epilepsy Research Group Publications
Please see some key and recent publications from our research group below. If you are interested in reviewing individual articles, these are available within each of our staff profiles.
Five highlights over the past 5 years:
- ILAE Classification and definition of epilepsy syndromes with onset in neonates and infants. Epilepsia. 2022 Jun
https://pubmed.ncbi.nlm.nih.gov/35503712/ - Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology. 2022 Mar
https://pubmed.ncbi.nlm.nih.gov/35074891/ - Gene variant effects across sodium channelopathies predict function and guide precision therapy Brain. 2022 Jan
https://pubmed.ncbi.nlm.nih.gov/35037686/ - Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021 Oct
https://pubmed.ncbi.nlm.nih.gov/34687210/ - ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017 Apr
https://pubmed.ncbi.nlm.nih.gov/28276062/
Recent publications:
- The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022 Jun
https://pubmed.ncbi.nlm.nih.gov/35696452/ - Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. Neurology. 2022 Mar
https://pubmed.ncbi.nlm.nih.gov/35074891/ - Gene variant effects across sodium channelopathies predict function and guide precision therapy Brain. 2022 Jan
https://pubmed.ncbi.nlm.nih.gov/35037686/ - Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain. 2021 Oct
https://pubmed.ncbi.nlm.nih.gov/34687210/ - Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020
https://pubmed.ncbi.nlm.nih.gov/32090326/ - Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohort. Neurology. 2020 Sep
https://pubmed.ncbi.nlm.nih.gov/32690789/ - Epilepsy and developmental disorders: Next generation sequencing in the clinic. Eur J Paediatr Neurol; 2020
https://pubmed.ncbi.nlm.nih.gov/31882278/ - Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. Eur J Paediatr Neurol. 2020 Jan
https://pubmed.ncbi.nlm.nih.gov/31924506/ - SCN1A variants from bench to bedside-improved clinical prediction from functional characterization. Hum Mutat. 2020 Feb
https://pubmed.ncbi.nlm.nih.gov/31782251/ - Infantile spasms: Etiology, lead time and treatment response in a resource limited setting. Epilepsy Behav Rep. 2020 Oct
https://pubmed.ncbi.nlm.nih.gov/33196034/