A5030610444- Epilepsy research and treatment
- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Genetics and Neurodevelopmental Disorders
- Telemedicine and Telehealth Implementation
- Machine Learning in Healthcare
- COVID-19 and healthcare impacts
- Neuroscience and Neuropharmacology Research
- Healthcare Systems and Technology
- Topic Modeling
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Language Development and Disorders
- Infectious Encephalopathies and Encephalitis
- Bioinformatics and Genomic Networks
- Cellular transport and secretion
- Ion channel regulation and function
- Emergency and Acute Care Studies
- Functional Brain Connectivity Studies
- BRCA gene mutations in cancer
- Musculoskeletal pain and rehabilitation
- Mitochondrial Function and Pathology
- Bipolar Disorder and Treatment
- Congenital heart defects research
- Reading and Literacy Development
Children's Hospital of Philadelphia
2019-2024
University of Pennsylvania
2020-2024
Vassar College
2015
Abstract The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard describe and computationally analyze phenotypic abnormalities found human disease. HPO is now worldwide for phenotype exchange. has grown steadily since its inception due considerable contributions from clinical experts researchers diverse range of disciplines. Here, we present recent major extensions the neurology, nephrology, immunology, pulmonology, newborn...
To assess the rapid implementation of child neurology telehealth outpatient care with onset coronavirus disease 2019 (COVID-19) pandemic in March 2020.
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, phenotypic spectrum STXBP1-related disorders is wide and clear correlations between variant type clinical features have not been observed so far. Here, we harmonized data across 534 individuals with analysed 19 973 derived terms, including phenotypes 253 previously unreported scientific literature. The overall landscape characterized by abnormalities 95% seizures 89%...
PurposePathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports genotype–phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed.MethodsWe extracted information from primary descriptions SCN2A-related disorders literature between 2001 2019, which we coded Human Phenotype Ontology (HPO) terms. With higher-level phenotype terms inferred by HPO structure, assessed frequencies clinical features...
Abstract Objective Seizure frequency and seizure freedom are among the most important outcome measures for patients with epilepsy. In this study, we aimed to automatically extract clinical information from unstructured text in notes. If successful, could improve decision-making epilepsy allow rapid, large-scale retrospective research. Materials Methods We developed a finetuning pipeline pretrained neural models classify as being seizure-free containing their date of last annotated 1000 notes...
Abstract N-methyl-D-aspartate receptors (NMDARs) are ligand-gated ionotropic glutamate that mediate a calcium-permeable component to fast excitatory neurotransmission. NMDARs heterotetrameric assemblies of two obligate GluN1 subunits ( GRIN1 ) and GluN2 GRIN2A - GRIN2D ). Sequencing data shows 43% (297/679) all currently known NMDAR disease-associated genetic variants within the gene, which encodes GluN2A subunit. Here, we show unlike missense variants, individuals affected with null...
Childhood epilepsies have a strong genetic contribution, but the disease trajectory for many etiologies remains unknown. Electronic medical record (EMR) data potentially allow analysis of longitudinal clinical information this has not yet been explored.We analyzed provider-entered neurological diagnoses made at 62,104 patient encounters from 658 individuals with known or presumed epilepsies. To harmonize terminology, we mapped descriptors to Human Phenotype Ontology (HPO) terms and inferred...
Febrile infection-related epilepsy syndrome (FIRES) is a severe childhood with refractory status epilepticus after typically mild febrile infection. The etiology of FIRES largely unknown, and outcomes in most individuals are poor.Here, we reviewed the current state-of-the art genetic testing strategies FIRES. We performed systematic computational analysis to identify characterize clinical landscape using Electronic Medical Records (EMR). Among 25 confirmed diagnosis over last decade,...
Abstract Objective The clinical features of epilepsy determine how it is defined, which in turn guides management. Therefore, consideration the fundamental entities that comprise an essential study causes, trajectories, and treatment responses. Human Phenotype Ontology (HPO) used widely research genetics for concise communication modeling features, allowing extracted data to be harmonized using logical inference. We sought redesign HPO seizure subontology improve its consistency with current...
Artificial intelligence (AI) allows data analysis and integration at an unprecedented granularity scale. Here we review the technological advances, challenges, future perspectives of using AI for electro-clinical phenotyping animal models patients with epilepsy. In translational research, accurately identify behavioral states in epilepsy, allowing identification correlations between neural activity interictal ictal behavior. Clinical applications AI-based automated semi-automated audio video...
Abstract Febrile infection‐related epilepsy syndrome (FIRES) is a devastating characterized by new‐onset refractory status epilepticus with prior febrile infection. We performed exome sequencing in 50 individuals FIRES, including 27 patient–parent trios and 23 single probands, none of whom had pathogenic variants established genes for epilepsies or neurodevelopmental disorders. also HLA 29 FIRES 529 controls, which failed to identify prominent alleles. The genetic architecture substantially...
Abstract While genetic studies of epilepsies can be performed in thousands individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution complex phenotypes with age. Here, we present novel approach, applying phenotypic similarity analysis to total 3251 patient-years longitudinal electronic medical record data from previously reported cohort 658 individuals epilepsies. After mapping clinical Human Phenotype Ontology, determined sharing each...
Abstract Aim To characterize child neurology telemedicine visits flagged as requiring in‐person evaluation during the COVID‐19 pandemic. Method We analyzed 7130 audio‐video between March and November 2020. Visits of concern (VOCs) were defined where clinical scenario necessitated follow‐up sooner than if visit had been conducted in‐person. Results VOCs occurred in 5% (333/7130) for 292 individuals (148 females, 144 males). Providers noted technical challenges more often (40%; 133/333)...
On the basis of idea that thoughts held about pain may represent "self-suggestions" and evidence indicating people with higher levels trait hypnotizability are more responsive to suggestions, current study evaluated hypothesized moderating effects on associations between pain-related both intensity interference.Eighty-five individuals chronic were given measures hypnotizability, intensity, interference, (control beliefs, catastrophizing).Analyses supported a role association control beliefs...
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the basis linguistic differences separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization speech in 52,143 individuals, reconstructing clinical histories using large-scale data mining approach Electronic Medical Records (EMR) from entire large paediatric healthcare network. The reported...
EEG plays an integral part in the diagnosis and management of children with genetic epilepsies. Nevertheless, how quantitative features differ between epilepsies neurological outcomes remains largely unknown. Here, we aimed to identify biomarkers epilepsy a
Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the basis linguistic differences separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization speech in 52 143 individuals, reconstructing clinical histories using large-scale data-mining approach electronic medical records from entire large paediatric healthcare network. The reported...
Abstract Variants in genes encoding the voltage-gated ion channels are among most common monogenic causes of epilepsy and neurodevelopmental disorders. Functional effects a variant increasingly important for diagnosis therapeutic decisions. To incorporate knowledge regarding functional consequences formal clinical interpretation, we developed an approach evaluating multiple measurements within Bayesian framework modified ACMG/AMP guidelines. We analyzed 216 assessments 191 variants SCN1A...