A5008443205- Genetics and Neurodevelopmental Disorders
- Connexins and lens biology
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Cellular transport and secretion
- Autism Spectrum Disorder Research
- Lipid Membrane Structure and Behavior
- RNA regulation and disease
- Biomedical and Engineering Education
- Ion channel regulation and function
- Genetics, Bioinformatics, and Biomedical Research
Apex Foundation
2021-2023
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%...
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians lack familiarity with these diseases, timely molecular diagnosis may improve outcomes. Herein we describe Genome-to-Treatment, an automated, virtual system for disease and acute management guidance. Diagnosis is achieved in 13.5 h by expedited whole genome sequencing, superior analytic...
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...
Abstract Introduction Pathogenic variants in STXBP1 cause a spectrum of disorders mainly consisting developmental and epileptic encephalopathy (DEE), often featuring drug-resistant epilepsy. An increased mortality risk occurs individuals with epilepsy DEE, sudden unexpected death (SUDEP) the major death. This study aimed to identify rate causes -related disorders. Methods Through an international call, we analyzed data on pathogenic variants, who passed away from related their disease....
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...