A5093057455- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Olfactory and Sensory Function Studies
- Dermatology and Skin Diseases
- Pharmacological Effects and Toxicity Studies
- Epilepsy research and treatment
- RNA and protein synthesis mechanisms
- Allergic Rhinitis and Sensitization
Medical Research Institute of New Zealand
2024
University of Otago
2023-2024
Abstract Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes DNA methylation are implicated various neurodevelopmental disorders but remain unstudied DEEs. We interrogate the diagnostic utility genome-wide array analysis on peripheral blood samples from 582 genetically unsolved identify rare differentially methylated regions (DMRs) explanatory episignatures to uncover candidate...
PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration synaptic activity by binding regulating G-actin PPP1CA. This study aimed to expand the genotype phenotype of patients with
Abstract SCN8A variants cause a spectrum of epilepsy phenotypes ranging from self‐limited infantile (SeLIE) to developmental and epileptic encephalopathy. SeLIE is an onset focal epilepsy, occurring in developmentally normal infants, which often resolves by 3 years. Our aim was ascertain when ‐SeLIE. We identified unpublished individuals with ‐SeLIE performed detailed phenotyping. Literature searched for published cases. Nine four families were (age at study = 3.5–66 years). Six had their...
Abstract Background Eczema is a chronic, relapsing skin condition commonly managed by emollients and topical corticosteroids. Prevalence of use demand for effective botanical therapies eczema high worldwide, however, clinical evidence benefit limited many currently available treatment options. Robustly-designed adequately powered randomised controlled trials (RCTs) are essential to determine benefit. This protocol describes an RCT that aims investigate whether mānuka oil based emollient...
ABSTRACT Sequence-based genetic testing currently identifies causative variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes DNA methylation are implicated various neurodevelopmental disorders but remain unstudied DEEs. Rare epigenetic variations (“epivariants”) can drive disease by modulating gene expression at single loci, whereas genome-wide result distinct “episignature” biomarkers for monogenic a growing number rare diseases. Here, we...