A5038397541- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- ATP Synthase and ATPases Research
- Biochemical and Molecular Research
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- Amino Acid Enzymes and Metabolism
- Epilepsy research and treatment
- Metalloenzymes and iron-sulfur proteins
- Functional Brain Connectivity Studies
- Diet and metabolism studies
- Advanced Neuroimaging Techniques and Applications
- RNA regulation and disease
- Neonatal and fetal brain pathology
- Esophageal and GI Pathology
- Trace Elements in Health
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- GDF15 and Related Biomarkers
- Cerebrovascular and genetic disorders
- Ear Surgery and Otitis Media
- Connective tissue disorders research
- Glycogen Storage Diseases and Myoclonus
- Congenital heart defects research
- Cellular transport and secretion
The University of Sydney
2020-2024
National Institute of Mental Health and Neurosciences
2014-2022
Children's Hospital at Westmead
2020-2022
Sydney Children’s Hospitals Network
2021
Manipal Academy of Higher Education
2021
Institute of Bioinformatics
2021
Radboud University Nijmegen
2021
Sydney Children's Hospital
2021
Mitochondrial disorders are clinically complex and have highly variable phenotypes among all inherited disorders. Mutations in mitochon drial DNA (mtDNA) nuclear genome or both been reported mitochondrial diseases suggesting common pathophysiological pathways. Considering the clinical heterogeneity of encephalopathy, lactic acidosis stroke-like episodes (MELAS) phenotype including focal neurological deficits, it is important to look beyond gene mutation.The clinical, histopathological,...
Complex febrile seizures (CFS), a subset of paediatric (FS), have been studied for their prognosis, epileptogenic potential and neurocognitive outcome. We evaluated functional connectivity differences with simple (SFS) in children recent-onset FS. Resting-state fMRI (rs-fMRI) datasets 24 recently diagnosed FS (SFS-n = 11; CFS-n 13) were analysed. Functional (FC) was estimated using time series correlation seed region-to-whole-brain-voxels network topology assessed graph theory measures....
The overlapping clinical and neuroimaging phenotypes of leukodystrophies pose a diagnostic challenge to both clinicians researchers alike. Studies on the application exome sequencing in diagnosis are emerging. We used targeted gene panel 6440 genes investigate genetic etiology cohort 50 children with leukodystrophy/genetic leukoencephalopathy unknown etiology. These patients without definite biochemical or were derived from 88 seen during 2.5-year period (2015 January-2017 June). Patients...
PurposeBiallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.MethodsSynthesis of clinical and molecular data concerning 34 five previously reported 12 novel variants, 11 which were functionally characterized.ResultsAmong individuals, only 6 remain...
Ethylmalonic encephalopathy (EE; OMIM #602473) is an autosomal recessive disorder characterized by (1) progressive neurologic impairment, including global developmental delay with periods of regression during illness, pyramidal and extrapyramidal signs, seizures; (2) generalized microvascular damage, petechial purpura chronic hemorrhagic diarrhea. It leads to premature death. EE caused mutations in ethylmalonic protein 1 ( ETHE1 ), more than 60 different have been reported.1,2 encodes a...
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result enzyme deficiency. We report the case female infant who presented with mild gross motor delay at 4 months, seizures hypoglycaemia 5 months. Newborn screening returned total leucine/isoleucine 99.5th centile population; however, as second-tier testing reported...
Identification and characterisation of monogenic causes complex neurological phenotypes are important for genetic counselling prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved early steps Fe-S cluster biogenesis, rare cause two distinct phenotypes: isolated sideroblastic anemia phenotype with variant non-ketotic hyperglycinemia. In this study, we analysed evolution clinical MRI findings long-term outcome patients GLRX5 mutations.
Hereditary folate malabsorption (HFM, congenital malabsorption; OMIM#229050) is a rare, potentially treatable autosomal recessive disorder with multisystem involvement.1 It caused by homozygous or compound heterozygous mutations in SLC46A1 resulting loss of function proton-coupled transporter (PCFT),2 required for intestinal absorption and transport across choroid plexus.1,2 This leads to the deficiency serum CSF, causing hematologic, immunologic, gastrointestinal, neurologic...
Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene patient progressive external ophthalmoplegia (PEO) multiple mtDNA deletions. The encodes mitochondria-located complementary 1 Q subcomponent-binding protein, involved mitochondrial homeostasis. Biallelic mutations cause cardiomyopathy and/or PEO variable age of onset. Our showed only late-onset PEO-plus syndrome without overt cardiac involvement. Available data suggest that...
A 7-year-old girl with MEGD(H)EL [3-methylglutaconic aciduria, dystonia-deafness, (hepatopathy), encephalopathy, Leigh-like syndrome, SERAC1]1 presented worsening respiratory compromise. The evaluation showed type II failure (e.g., hypercapnic) necessitating mechanical ventilation. Cerebral MRI demonstrated progression of known changes in (Figure, and B) symmetric nucleus tractus solitarius (NTS) involvement C D). She was ventilator dependent subsequently died from the effect disease.