A5029407224- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Mitochondrial Function and Pathology
- Infant Development and Preterm Care
- Genetics and Neurodevelopmental Disorders
- EEG and Brain-Computer Interfaces
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Muscle Physiology and Disorders
- Fetal and Pediatric Neurological Disorders
- Viral Infections and Immunology Research
- RNA regulation and disease
- Cardiac Arrhythmias and Treatments
- Genomics and Rare Diseases
- Infectious Encephalopathies and Encephalitis
- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
- Cerebrovascular and genetic disorders
- Amyotrophic Lateral Sclerosis Research
- Eosinophilic Disorders and Syndromes
- Acute Lymphoblastic Leukemia research
- Child Abuse and Related Trauma
- Nuclear Receptors and Signaling
- Tracheal and airway disorders
Starship Children's Health
2005-2023
Auckland City Hospital
2022
University College London
2005-2017
University of Pennsylvania
2016
Children's Hospital at Westmead
2016
Children's Hospital of Pittsburgh
2016
University of Pittsburgh
2016
The University of Sydney
2016
University of Padua
2016
Queensland Children’s Hospital
2016
Dysembryoplastic neuroepithelial tumors (DNTs) are associated with medically intractable epilepsy and a favorable prognosis after surgical resection. The authors describe the clinical, radiologic, pathologic characteristics outcomes in children resection of pathologically confirmed DNT to ascertain prognostic features for seizure recurrence following surgery.Neurology, neurosurgery, pathology databases from 1993 2002 at Hospital Sick Children were searched retrospectively identify...
Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management this important emerging disorder. Methods Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans . We then undertook a detailed analysis the clinical, histopathological imaging features these patients. Results All had prenatal or early onset hypotonia contractures. None...
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause genetic generalized epilepsy. We previously reported that >10% (4 34) a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses new 55 patients EOAE to confirm finding. Patients typical seizures beginning before 4 years age were screened for solute carrier family 2 (facilitated glucose transporter), member (SLC2A1) or deletions. All spike-waves on...
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response treatment.Identification etiology treatment 377 enrolled clinical trial between 2007 2014 using systematic review history, examination, investigations. They were classified pediatric adaptation International Classification Diseases, Tenth Revision (ICD-10).A total 219 (58%) had proven etiology, whom 128 responded, 58 108 (54%) allocated hormonal treatment, 70 111 (63%)...
To study rituximab in pediatric neuromyelitis optica (NMO)/NMO spectrum disorders (NMOSD) and the relationship between rituximab, B cell repopulation, relapses order to improve monitoring redosing.Multicenter retrospective of 16 children with NMO/NMOSD receiving ≥2 courses. According CD19 counts, events during were categorized as "repopulation," "depletion," or "depletion failure" (repopulation threshold ≥10 × 10(6) cells/L).The patients (14 girls; mean age 9.6 years, range 1.8-15.3) had a...
A distinctive pattern of enterovirus 71 (EV71) infection, characterized by fever, exanthem, acute pulmonary edema (PE), brainstem encephalitis, and flaccid paresis, affects infants young children. Most die rapidly owing to respiratory failure fulminant PE.The authors report short- long-term outcome six survivors the illness.In context PE widespread weakness, recognition underlying neurologic disorder was facilitated MRI signal abnormalities in posterior pons medulla. EV71-specific PCR...
The purpose of this study was to identify the pathologic features that predict postoperative outcome in children with cortical dysplasia adjacent dysembryoplastic neuroepithelial tumors. We reviewed records tumor who underwent epilepsy surgery and had at least 1 year surgical follow-up. divided tumors into three pathology classes (simple, complex, nonspecific), categorized adjunctive four types, compared histopathology seizure outcomes. identified 26 Dysembryoplastic were complex 19 patients...
During the Australian summer of 2000/2001, there was an outbreak enterovirus 71 infection in Sydney. Between December 2000 and May 2001, approximately 200 children presented to Sydney Children's Hospital with hand-foot-and-mouth disease 18 experienced neurologic complications. Four acute invasive central nervous system severe pulmonary edema. We describe cardiorespiratory disturbances intensive care management these four consecutive successfully treated for neurogenic edema attributed proven...
To assess the use of two-channel electroencephalographical (EEG) recordings for predicting adverse neurodevelopmental outcome (death or Bayley II mental developmental index/psychomotor index < 70) in extremely preterm infants and to determine relationship between quantitative continuity measures a specialist neurophysiologist assessment same EEG segment outcome.Observational study.The study was conducted neonatal intensive care unit.Preterm born <29 weeks' gestation.Two-channel EEGs using...
Superoxide dismutase-1 is a ubiquitously expressed antioxidant enzyme. Mutations in SOD1 can cause amyotrophic lateral sclerosis, probably via toxic gain-of-function involving protein aggregation and prion-like mechanisms. Recently, homozygosity for loss-of-function mutations has been reported patients presenting with infantile-onset motor neuron disease. We explored the bodily effects of superoxide enzymatic deficiency eight children homozygous p.C112Wfs*11 truncating mutation. In addition...
The aim of this study was to describe the clinical and neurophysiologic correlates atypical absence seizures in children with intractable epilepsy. In a retrospective review, 19 videoelectroencephalographic monitoring (female n=14; male n=5) fulfilled electroclinical criteria for seizure type. Atypical occurred spectrum conditions associated educational disability seizures. comparison only seizures, association multiple types were more likely have severe (n=11 13; P = .01), slower ictal...
This case illustrates an uncommon form of symptomatic startle-induced epilepsy associated with infantile hemiplegia. Seizure semiology, neuroimaging and neurophysiological findings support involvement the supplementary motor area in generation this seizure type. We present 11-year-old girl seizures, illustrated on video-EEG, against background left hemiplegia extensive right hemispheric porencephaly but preserved cognitive functioning. The epileptic focus appears to be dorsolateral frontal...
Disorders of mitochondrial function are a collectively common group genetic diseases in which deficits core translation machinery, including aminoacyl tRNA synthetases, key players. Biallelic variants the
A 2-year-old presented with lethargy, acute visual loss, fixed dilated pupils and severe bilateral retinal haemorrhages. The findings raised concerns about abusive head trauma, but subsequent investigations confirmed the diagnosis of optic neuritis associated disseminated encephalomyelitis.
The purpose of this study was to identify the pathologic features that predict postoperative outcome in children with cortical dysplasia adjacent dysembryoplastic neuroepithelial tumors. We reviewed records tumor who underwent epilepsy surgery and had at least 1 year surgical follow-up. divided tumors into three pathology classes (simple, complex, nonspecific), categorized adjunctive four types, compared histopathology seizure outcomes. identified 26 Dysembryoplastic were complex 19 patients...