A5057229562- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Connexins and lens biology
- Autism Spectrum Disorder Research
- RNA regulation and disease
- Pharmacological Effects and Toxicity Studies
- CRISPR and Genetic Engineering
- Vascular Malformations Diagnosis and Treatment
- Infectious Encephalopathies and Encephalitis
- Intracranial Aneurysms: Treatment and Complications
- Childhood Cancer Survivors' Quality of Life
- Cellular transport and secretion
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
Children's Hospital of Philadelphia
2022-2025
University of Pennsylvania
2019-2025
Philadelphia University
2023-2025
Heidelberg University
2023
University Hospital Heidelberg
2023
Cerebral cavernous malformation (CCM) is a genetic, cerebrovascular disease. Familial CCM caused by genetic mutations in KRIT1, CCM2, or PDCD10 Disease onset earlier and more severe individuals with mutations. Recent studies have shown that lesions arise from excess mitogen-activated protein kinase 3 (MEKK3) signaling downstream of Toll-like receptor 4 (TLR4) stimulation lipopolysaccharide derived the gut microbiome. These findings suggest gut-brain disease axis but fail to define it explain...
STXBP1-related disorders are rare genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models formal frameworks to assess lived experience individuals their families provide a basis for generating outcome measures.
Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset the first year of life a variety seizure types, including epileptic spasms. However, impact early seizures and antiseizure medication (ASM) on risk developing spasms their trajectory are poorly understood, limiting informed anticipatory treatment, as well trial design.
Abstract STXBP1-related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, longitudinal epilepsy course developmental end points, have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1281 cumulative patient-years of seizure histories 162 individuals with established natural history framework. characterized by dynamic pattern seizures first year life high variability trajectories...
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,...
Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with de novo disruptive BSN , which encodes the presynaptic protein Bassoon. To expand phenotypic spectrum, identified 15 additional protein-truncating (PTVs) from large biobanks. Clinical features were standardized using Human Phenotype Ontology (HPO) across all 29 individuals, revealed clinical characteristics including epilepsy (13/29 45%),...
Pathogenic variants in
To delineate disease trajectories and longitudinal treatment landscapes in genetic epilepsies through Real-World Data captured from routine clinical care.
Purpose: Genetic counselors (GCs) increasingly play key roles in advancing genomic medicine through innovative research. Here, we examine one large cohort of GCs’ evolving contributions to the literature, with goal facilitating worldwide professional development for GCs scholarly activities. Methods: Publications were cataloged by members Section Counseling (Section), established at Children’s Hospital Philadelphia and University Pennsylvania 2014, including publication year, journal, impact...
Abstract STXBP1 -related disorders are among the most common genetic epilepsies and neurodevelopmental disorders. However, longitudinal epilepsy course developmental endpoints have not yet been described in detail, which is a critical prerequisite for clinical trial readiness. Here, we assessed 1,281 cumulative patient-years of seizure histories 162 individuals with established natural history framework. characterized by dynamic pattern seizures first year life high variability trajectories...
ABSTRACT Background and Objectives Individuals with disease-causing variants in STXBP1 frequently have epilepsy onset the first year of life a variety seizure types, including epileptic spasms. However, impact early-onset seizures anti-seizure medication (ASM) on risk developing spasms their trajectory is poorly understood, limiting informed anticipatory treatment, as well trial design. Methods We retrospectively reconstructed histories weekly intervals for individuals -related disorders...
Abstract Objective STXBP1 -related disorders are common genetic epilepsies and neurodevelopmental disorders, but the impact of symptoms across clinical domains is poorly understood. Disease concept models formal frameworks to assess lived experience individuals their families provide a basis for generating outcome measures. Methods We conducted semi-structured, qualitative interviews with 19 caregivers 16 7 healthcare professionals. systematically coded themes using NVivo software grouped...
Abstract 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...