Area of research
Genetics · Psychiatry and Mental health
Research interest
Research interests include Epilepsy research and treatment, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Neuroscience and Neuropharmacology Research.
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Development and Adaptive Function in Individuals With <i>SCN2A</i>-Related Disorders.
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <scp>(D/EE‐SWAS</scp>)
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.
"Don't Throw the Baby out with the Bathwater".
Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications
<i>ATP1A2-</i> and <i>ATP1A3-</i>associated early profound epileptic encephalopathy and polymicrogyria
The severe epilepsy syndromes of infancy: A population-based study.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Parental health spillover effects of paediatric rare genetic conditions
Developmental and epilepsy spectrum of <i>KCNB1</i> encephalopathy with long‐term outcome
Expanding the genetic and phenotypic relevance of <i>KCNB1</i> variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of <i>SCN2A</i> epilepsy
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation
<i>TBC1D24</i> genotype–phenotype correlation
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia
The genetic landscape of the epileptic encephalopathies of infancy and childhood
<i>SCN2A</i> encephalopathy
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1