Select Publications
Journal articles
2024, 'Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset', Seizure, 115, pp. 1 - 13, http://dx.doi.org/10.1016/j.seizure.2023.12.013
,2024, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 66, pp. 206 - 215, http://dx.doi.org/10.1111/dmcn.15695
,2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.15987
,2023, '“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy', European Journal of Paediatric Neurology, 47, pp. 94 - 104, http://dx.doi.org/10.1016/j.ejpn.2023.09.010
,2023, 'Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme', Journal of Paediatrics and Child Health, 59, pp. 307 - 318, http://dx.doi.org/10.1111/jpc.16291
,2023, 'Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice', Developmental Medicine and Child Neurology, 65, pp. 50 - 57, http://dx.doi.org/10.1111/dmcn.15308
,2023, 'Understanding the ongoing learning needs of Australian metropolitan, rural and remote paediatricians: Evaluation of a neurology outreach programme', Journal of Paediatrics and Child Health, 59, pp. 134 - 143, http://dx.doi.org/10.1111/jpc.16261
,2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, 1, http://dx.doi.org/10.1016/j.pecinn.2021.100014
,2022, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, 26, pp. 581 - 596, http://dx.doi.org/10.1177/13674935211033466
,2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, 12, pp. e063249, http://dx.doi.org/10.1136/bmjopen-2022-063249
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, 58, pp. 1722 - 1725, http://dx.doi.org/10.1111/jpc.16202
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, 58, pp. 1726 - 1728, http://dx.doi.org/10.1111/jpc.16187
,2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, 58, pp. 1718 - 1721, http://dx.doi.org/10.1111/jpc.16165
,2022, 'It's made a really hard situation even more difficult: The impact of COVID-19 on families of children with chronic illness', PLoS ONE, 17, http://dx.doi.org/10.1371/journal.pone.0273622
,2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, 37, pp. 129 - 138, http://dx.doi.org/10.1016/j.ejpn.2022.01.022
,2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 64, pp. 95 - 104, http://dx.doi.org/10.1111/dmcn.14971
,2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655
,2021, 'Evaluation of an educational video providing key messages for doctors to counsel families following a first afebrile seizure', Journal of Paediatrics and Child Health, 57, pp. 198 - 203, http://dx.doi.org/10.1111/jpc.15171
,2021, 'P0006 / #556: ASSESSING THE LOGISTICS, FEASIBILITY AND CHALLENGES OF ESTABLISHING CONTINUOUS EEG SERVICE IN A CHILDREN’S ICU', Pediatric Critical Care Medicine, 22, pp. 40 - 40, http://dx.doi.org/10.1097/01.pcc.0000738368.99382.28
,2020, 'RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features', American Journal of Human Genetics, 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005
,2020, 'Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study', Neurology, 95, pp. E2866 - E2879, http://dx.doi.org/10.1212/WNL.0000000000010794
,2020, 'The information needs of parents of children with early-onset epilepsy: A systematic review', Epilepsy and Behavior, 112, pp. 107382, http://dx.doi.org/10.1016/j.yebeh.2020.107382
,2019, 'Implementing a new adolescent epilepsy service: Improving patient experience and readiness for transition', Journal of Paediatrics and Child Health, 55, pp. 819 - 825, http://dx.doi.org/10.1111/jpc.14301
,2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
,2019, 'Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination', Acta Neuropathologica Communications, 7, http://dx.doi.org/10.1186/s40478-019-0786-3
,2018, 'EpApp: Development and evaluation of a smartphone/tablet app for adolescents with epilepsy', Journal of Clinical Neuroscience, 50, pp. 214 - 220, http://dx.doi.org/10.1016/j.jocn.2018.01.065
,2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
,2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
,2018, 'Unusual case of tuberculous meningitis with discordant ventricular and lumbar cerebrospinal fluid; lessons in the era of world-wide migration', Journal of Paediatrics and Child Health, 54, pp. 93 - 95, http://dx.doi.org/10.1111/jpc.13665
,2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
,2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922
,2016, 'The Severity of Gliosis in Hippocampal Sclerosis Correlates with Pre-Operative Seizure Burden and Outcome After Temporal Lobectomy', Molecular Neurobiology, 53, pp. 5446 - 5456, http://dx.doi.org/10.1007/s12035-015-9465-y
,2016, 'Evaluation of an E-learning resource on approach to the first unprovoked seizure', Journal of Paediatrics and Child Health, 52, pp. 896 - 900, http://dx.doi.org/10.1111/jpc.13277
,2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157
,2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
,2015, 'Exploring carer perceptions of training in out-of-hospital use of buccal midazolam for emergency management of seizures (2008-2012)', Journal of Paediatrics and Child Health, 51, pp. 704 - 707, http://dx.doi.org/10.1111/jpc.12811
,2014, 'Response to "About Focal Cortical Dysplasia (FCD) type IIIa"', Epilepsy Research, 108, pp. 1958 - 1959, http://dx.doi.org/10.1016/j.eplepsyres.2014.09.027
,2014, 'Caring for children and adolescents with epilepsy: Creating an innovative electronic educational resource', Journal of Clinical Neuroscience, 21, pp. 1831 - 1832, http://dx.doi.org/10.1016/j.jocn.2014.02.019
,2014, 'Clinicopathological associations in temporal lobe epilepsy patients utilising the current ILAE focal cortical dysplasia classification', Epilepsy Research, 108, pp. 1345 - 1351, http://dx.doi.org/10.1016/j.eplepsyres.2014.06.013
,2014, ''Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development', Journal of Paediatrics and Child Health, 50, pp. 393 - 398, http://dx.doi.org/10.1111/jpc.12485
,2013, 'Severe hemorrhagic meningoencephalitis due to angiostrongylus cantonensis among young children in Sydney, Australia', Clinical Infectious Diseases, 57, pp. 1158 - 1161, http://dx.doi.org/10.1093/cid/cit444
,2013, ''Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development', Journal of Paediatrics and Child Health, http://dx.doi.org/10.1111/jpc.12485
,2013, 'Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1', Nature Genetics, 45, pp. 825 - 830, http://dx.doi.org/10.1038/ng.2646
,2012, 'De novo mutations in ATP1A3 cause alternating hemiplegia of childhood', Nature Genetics, 44, pp. 1030 - 1034, http://dx.doi.org/10.1038/ng.2358
,2010, 'Personalised epilepsy education intervention for adolescents and impact on knowledge acquisition and psychosocial function', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13)
,2009, 'Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2', American Journal of Human Genetics, 84, pp. 44 - 51
,2009, 'Teaching paediatric epilepsy to medical students: A randomised crossover trial', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 45, pp. 727 - 730
,2009, 'Voxel-based morphometry in the detection of dysplasia and neoplasia in childhood epilepsy: Limitations of grey matter analysis', Journal of Clinical Neuroscience, 16, pp. 780 - 785, http://dx.doi.org/10.1016/j.jocn.2008.08.025
,2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914
,2007, 'The spectrum of SCN1A-related infantile epileptic encephalopathies', Brain, 130, pp. 843 - 852, http://dx.doi.org/10.1093/brain/awm002
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