A5007097008- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- EEG and Brain-Computer Interfaces
- Nausea and vomiting management
- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Infectious Diseases and Tuberculosis
- Neuroscience and Music Perception
- Neuroscience and Neuropharmacology Research
- Anesthesia and Pain Management
- Neutropenia and Cancer Infections
- Neonatal and fetal brain pathology
- Amino Acid Enzymes and Metabolism
- Functional Brain Connectivity Studies
- Genomic variations and chromosomal abnormalities
- Cardiac, Anesthesia and Surgical Outcomes
- Cardiac pacing and defibrillation studies
- Infective Endocarditis Diagnosis and Management
- RNA and protein synthesis mechanisms
Helen DeVos Children's Hospital
2017-2024
Corewell Health
2024
University of Michigan
2014
The Ohio State University
2013
Nationwide Children's Hospital
2013
Indiana University School of Medicine
2008
Indiana University – Purdue University Indianapolis
2008
Abstract Objectives We aimed to develop consensus on comorbidities (frequency, severity, and prognosis) overall outcomes in epilepsy, development, cognition for the five phenotypes of SCN8A ‐related disorders. Methods A core panel consisting 13 clinicians, 1 researcher, 6 caregivers was formed split into three workgroups. One group focused prognosis. All groups performed a literature review developed questions use modified‐Delphi process. Twenty‐eight one from 16 countries participated...
Abstract Objective We aimed to develop consensus for diagnosis/management of SCN8A ‐related disorders. Utilizing a modified Delphi process, global cohort experienced clinicians and caregivers provided input on diagnosis, phenotypes, treatment, management Methods A Core Panel (13 clinicians, one researcher, six caregivers), divided into three subgroups (diagnosis/phenotypes, comorbidities/prognosis), performed literature review developed questions the process. Twenty‐eight expert 13 from 16...
Glycosylphosphatidylinositol anchoring disorders (GPI-ADs) are a subgroup of congenital glycosylation. GPI biosynthesis requires proteins encoded by over 30 genes which 24 linked to neurodevelopmental disorders. Patients, especially those with PIGA-encephalopathy, have high risk premature mortality sometimes is attributed cardiomyopathy. We aimed explore the occurrence cardiomyopathy among patients GPI-ADs and raise awareness about this potentially lethal feature. Unpublished genetically...
SLC6A1 is associated with an autosomal dominant early-onset seizure and epileptic encephalopathy intellectual disability. We present a 2-yr-old girl developmental delay epilepsy, using new computational filtering impact score to show the patient's variant ranks other pathogenic variants. Genomic studies within patient revealed G443D of uncertain significance. Structural evolutionary assessments establish this as loss function protein. Compiled metrics through our custom tools on sequence,...
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This case report describes a rare instance of reflex seizures in 4-year-old boy with complex medical history, including total anomalous pulmonary venous connection and developmental disabilities. The patient experienced triggered exclusively by specific visual stimulus: the transition scene from Disney castle to Pixar lamp Disney-Pixar movies. Video electroencephalography (EEG) revealed biparasagittal rhythmic delta waves diffuse slowing, suggesting parietal involvement cortical processing....
Abstract Predicting genotype‐to‐phenotype correlations from genomic variants has been challenging, particularly for genes that have a complex balance of dominant and recessive inheritance phenotypes. Variants in NMDA receptor components GRIN1 , GRIN2A GRIN2B cause myriad disease phenotypes, with the most common being epilepsy autism spectrum disorder. Starting analysis variant uncertain significance (VUS, G760S), we realized need tools to map receptor. Some within exert developmental delay,...