Amy Schneider
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View article: Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy
Variants in <i>ATP6V0C</i> are associated with Dravet‐like developmental and epileptic encephalopathy Open
Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy. Diagnosis is clinical, but ~90% of patients have pathogenic variants in SCN1A . ATP6V0C has recently been proposed as a novel candidate gene for epilepsy, with…
View article: <scp><i>SCN1A</i></scp> pathogenic variants do not have a distinctive blood‐derived <scp>DNA</scp> methylation signature
<span><i>SCN1A</i></span> pathogenic variants do not have a distinctive blood‐derived <span>DNA</span> methylation signature Open
DNA methylation signatures (“episignatures”) can be used as biomarkers of genetic aberrations, clinical phenotypes, and environmental exposures in rare diseases. Episignatures are utilized in molecular diagnostics and can clarify variants …
View article: Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement Open
View article: Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <scp>(D/EE‐SWAS</scp>)
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep <span>(D/EE‐SWAS</span>) Open
Objective To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave activation in sleep (DEE‐SWAS) and epileptic encephalopathy with spike–w…
View article: Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless Open
Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health A…
View article: Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies
Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies Open
Objective SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, a…
View article: A Vertically Integrated Project Approach to Ethnographic Methods Training
A Vertically Integrated Project Approach to Ethnographic Methods Training Open
The Vertically Integrated Project (VIP) model, developed in engineering, is a methodological approach that integrates undergraduate students, graduate students and faculty in projects for both research and student training. Recent applicat…
View article: Inhaltsverzeichnis
Inhaltsverzeichnis Open
View article: Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature Open
Sequence-based genetic testing currently identifies causative genetic variants in ∼50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmenta…
View article: Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless. Open
Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health A…
View article: Posthuman pedagogy: experiential education for an era of mutualism
Posthuman pedagogy: experiential education for an era of mutualism Open
Wildlife-human relations in the United States are predominantly influenced by Euro-American sociocultural dynamics and (neo)colonial legacies. Humans dominate nonhuman animals through violence, suffering, and death. Wildlife management as …
View article: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients Open
View article: Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies Open
We showed that proportions of patients with CSE, NCSE, and SUDEP differ for commonly encountered genetic DEEs. The estimates for each genetic DEE studied will inform early diagnosis and management of status epilepticus and SUDEP and inform…
View article: EP292/#552 Hope and choices: direct patient preference elicitation for durable versus fixed survival gains in women with recurrent ovarian cancer (ROC)
EP292/#552 Hope and choices: direct patient preference elicitation for durable versus fixed survival gains in women with recurrent ovarian cancer (ROC) Open
Objectives Hope in oncology can be defined as the desire to be a statistical outlier (tail of the curve). We examined preferences of ROC patients for tail of the curve survival. Methods Patients chose between a clinical trial (chance at du…
View article: EP268/#553 Side effects and decision-making factors associated with maintenance therapy: patient preferences using a visual scale analog (VAS) assessment
EP268/#553 Side effects and decision-making factors associated with maintenance therapy: patient preferences using a visual scale analog (VAS) assessment Open
Objectives Women with advanced stage ovarian cancer (OC) have several options for maintenance therapy (MT). Given the extended time over which MT is given, we assessed patient preferences for potential side effects (SEs) and decision-makin…
View article: EP293/#574 Do patients prefer maintenance therapy or surveillance? Weighing gain in progression-free survival and risks of adverse events via time trade-off and standard gamble assessments
EP293/#574 Do patients prefer maintenance therapy or surveillance? Weighing gain in progression-free survival and risks of adverse events via time trade-off and standard gamble assessments Open
Objectives Maintenance therapy (MT) offers improved PFS for women with ovarian cancer (OC). Patients face a trade-off between potential gain in PFS and risk of adverse events (AEs). We assessed preferences for MT using direct elicitation m…
View article: Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Open
View article: Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies Open
This study provides Class II evidence that a combined SCN1A genetic score and seizure onset model distinguishes Dravet syndrome from other GEFS+ phenotypes.
View article: Expanding the phenotypic and genetic CUX2 spectrum
Expanding the phenotypic and genetic CUX2 spectrum Open
View article: Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndrome
Somatic <i>IDH1</i> variant (p.R132C) in an adult male with Maffucci syndrome Open
Maffucci syndrome is a rare, highly variable somatic mosaic condition, and well-known cancer-related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported individuals. Features …
View article: Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials
Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials Open
Objective The classical description of Dravet syndrome, the prototypic developmental and epileptic encephalopathy, is of a normal 6‐month‐old infant presenting with a prolonged, febrile, hemiclonic seizure and showing developmental slowing…
View article: Pathogenic <scp> <i>MAST3</i> </scp> Variants in the <scp>STK</scp> Domain Are Associated with Epilepsy
Pathogenic <span> <i>MAST3</i> </span> Variants in the <span>STK</span> Domain Are Associated with Epilepsy Open
Objective The MAST family of microtubule‐associated serine–threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been conclusively associated with neurologica…
View article: Graphical Abstract: Angew. Chem. Int. Ed. 24/2021
Graphical Abstract: Angew. Chem. Int. Ed. 24/2021 Open
CycloparaphenylenesIn their Communication on page 13529, Michal Juríc ˇek et al. describe a neutral open-shell carbon nanoring and show that its reactivity is a result of steric and electronic effects of the cycloparaphenylene framework.
View article: Pathogenic<i>MAST3</i>variants in the STK domain are associated with epilepsy
Pathogenic<i>MAST3</i>variants in the STK domain are associated with epilepsy Open
Objective The MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been associated with neurological disease, wit…
View article: Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (vol 3, fcaa235, 2021)
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (vol 3, fcaa235, 2021) Open
[This corrects the article DOI: 10.1093/braincomms/fcaa235.][This corrects the article DOI: 10.1093/braincomms/fcaa235.].
View article: Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain Open
Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism …
View article: <i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability
<i>FBXO28</i> causes developmental and epileptic encephalopathy with profound intellectual disability Open
Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28 , have been implicated in monogenic disease. Patie…
View article: The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective Open
View article: NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Open
View article: Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome Open