Select Publications
Journal articles
2017, 'Frequency and predictors of psychological distress after a diagnosis of epilepsy: A community-based study', Epilepsy and Behavior, 75, pp. 190 - 195, http://dx.doi.org/10.1016/j.yebeh.2017.07.044
,2017, 'DNM1 encephalopathy', Neurology, 89, pp. 385 - 394, http://dx.doi.org/10.1212/WNL.0000000000004152
,2017, 'GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, 54, pp. 460 - 470, http://dx.doi.org/10.1136/jmedgenet-2016-104509
,2017, 'Psychometric evaluation of quality of life measures in a three-arm, randomized, double-blind, placebo-controlled phase III study of everolimus as adjunctive therapy in patients with tuberous sclerosis complex (TSC) who have refractory partial-onset seizures (EXIST-3) (P2.057)', Neurology, 88, http://dx.doi.org/10.1212/wnl.88.16_supplement.p2.057
,2017, 'Management Strategies for CLN2 Disease', Pediatric Neurology, 69, pp. 102 - 112, http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.034
,2017, 'TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients', Orphanet Journal of Rare Diseases, 12, pp. 2, http://dx.doi.org/10.1186/s13023-016-0553-5
,2017, 'Outcomes in patients with tuberous sclerosis complex-associated treatment-refractory seizures, transitioning from placebo in core phase to everolimus during extension phase of the EXIST-3 trial', Journal of the Neurological Sciences, 381, pp. 87 - 87, http://dx.doi.org/10.1016/j.jns.2017.08.293
,2016, 'Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study', The Lancet, 388, pp. 2153 - 2163, http://dx.doi.org/10.1016/S0140-6736(16)31419-2
,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, 'Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth', Pediatric Dermatology, 33, pp. 536 - 542, http://dx.doi.org/10.1111/pde.12946
,2016, 'Phenotypic insights into ADCY5-associated disease', Movement Disorders, 31, pp. 1033 - 1040, http://dx.doi.org/10.1002/mds.26598
,2016, 'Eye movement disorders are an early manifestation of CACNA1A mutations in children', Developmental Medicine and Child Neurology, 58, pp. 639 - 644, http://dx.doi.org/10.1111/dmcn.13033
,2016, 'Expert opinion on the management of CLN2 disease', Molecular Genetics and Metabolism, 117, pp. S103 - S104, http://dx.doi.org/10.1016/j.ymgme.2015.12.432
,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
,2015, 'Anti-N-methyl-D-Aspartate encephalitis - a case study of symptomatic progression', Australasian Psychiatry, 23, pp. 422 - 425, http://dx.doi.org/10.1177/1039856215588229
,2015, 'Ten-year single-center experience of the ketogenic diet: Factors influencing efficacy, tolerability, and compliance', Journal of Pediatrics, 166, pp. 1030 - 1036.e1, http://dx.doi.org/10.1016/j.jpeds.2014.12.018
,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, '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, 'Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex', Journal of Pediatrics, 164, pp. 1195 - 1200, http://dx.doi.org/10.1016/j.jpeds.2013.12.053
,2014, 'Managing tuberous sclerosis in the Asia-Pacific region: Refining practice and the role of targeted therapy', Journal of Clinical Neuroscience, 21, pp. 1180 - 1187, http://dx.doi.org/10.1016/j.jocn.2013.06.029
,2013, 'Coeliac disease, epilepsy, and cerebral calcifications: Association with TG6 autoantibodies', Developmental Medicine and Child Neurology, 55, pp. 90 - 93, http://dx.doi.org/10.1111/j.1469-8749.2012.04369.x
,2012, 'A genetic diagnostic approach to infantile epileptic encephalopathies', Journal of Clinical Neuroscience, 19, pp. 934 - 941, http://dx.doi.org/10.1016/j.jocn.2012.01.017
,2012, 'Changes in Anticonvulsant Prescribing for Australian Children: Implications for Quality use of medicines', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 48, pp. 490 - 495, http://dx.doi.org/10.1111/j.1440-1754.2011.02223.x
,2011, 'An Australian tuberous sclerosis cohort: Are surveillance guidelines being met?', Journal of Paediatrics and Child Health, 47, pp. 711 - 716, http://dx.doi.org/10.1111/j.1440-1754.2011.02038.x
,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, 'Resolution of hydrocephalus-associated sensorineural hearing loss after insertion of ventriculoperitoneal shunt: Case report', Journal of Neurosurgery-Pediatrics, 4, pp. 394 - 396, http://dx.doi.org/10.3171/2009.4.PEDS09103
,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, 'A teenager with mononeuritis multiplex: A case report and review of the literature', Clinical Neurophysiology, 119, pp. e22 - e23, http://dx.doi.org/10.1016/j.clinph.2007.10.046
,2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914
,2007, 'Memory and phonological awareness in children with Benign Rolandic Epilepsy compared to a matched control group', Epilepsy Research, 75, pp. 57 - 62
,2007, 'Voxel-based morphometry in the detection of dysplasia and neoplasia in childhood epilepsy: Combined grey/white matter analysis augments detection', Epilepsy Research, 77, pp. 93 - 101, http://dx.doi.org/10.1016/j.eplepsyres.2007.09.004
,2006, 'Longitudinal assessment of neuropsychologic and language function in children with benign Rolandic epilepsy', Journal of Child Neurology, 21, pp. 518 - 522
,2006, 'Quality of life of children with benign rolandic epilepsy', Pediatric Neurology, 35, pp. 240 - 245
,2006, 'The impact of epilepsy surgery on quality of life in children', Neurology, 66, pp. 557 - 561
,2005, 'Distinct Clinicopathological subtypes of cortical dysplasia of Taylor', Neurology, 64, pp. 55 - 61
,2005, 'Neuropsychological and language profile in benign rolandic epilepsy over time', Journal of the Neurological Sciences, 238, pp. S83 - S83
,2005, 'Quality of life in childhood epilepsy: Validating the QOLCE', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 41, pp. 157 - 158
,2005, 'Spike morphology, location, and frequency in benign epilepsy with centrotemporal spikes', Journal of Child Neurology, 20, pp. 188 - 194
,2005, 'The impact of epilepsy surgery on quality of life in children: A prospective study', Epilepsia, 46, pp. 249 - 250
,2005, 'The neuropsychological and language profile of children with benign rolandic epilepsy', Epilepsia, 46, pp. 924 - 930
,2005, 'Voxel based morphometry detects subtle dysplasia and neoplasia in childhood epilepsy', Journal of the Neurological Sciences, 238, pp. S259 - S260
,2004, 'Pharyngeal-cervical-brachial variant Guillain-Barré syndrome in a child', Journal of Child Neurology, 19, pp. 626 - 627, http://dx.doi.org/10.1177/088307380401900812
,2004, 'Application of statistical parametric mapping to SPET in the assessment of intractable childhood epilepsy', European Journal of Nuclear Medicine and Molecular Imaging, 31, pp. 369 - 377, http://dx.doi.org/10.1007/s00259-003-1366-z
,2004, 'Identification of focal cortical dysplasia and neoplasms in the MRI ofchildren with epilepsy rising voxel based morphometry', Epilepsia, 45, pp. 83 - 83
,2004, 'Memory function in childhood epilepsy syndromes', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 40, pp. 20 - 27
,2004, 'Speech and language deterioration in benign rolandic', Journal of Child Neurology, 19, pp. 53 - 58
,2003, 'Intelligence in childhood epilepsy syndromes', Epilepsy Research, 53, pp. 139 - 150
,2003, 'The health-related quality of life of childhood epilepsy syndromes', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 39
,2003, 'Validation of the quality of life in childhood epilepsy questionnairein American epilepsy patients', Epilepsy and Behavior, 4, pp. 680 - 691
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