A5056664861- Epilepsy research and treatment
- Amino Acid Enzymes and Metabolism
- Drug Transport and Resistance Mechanisms
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Pain Mechanisms and Treatments
- Child Nutrition and Feeding Issues
- Ion Transport and Channel Regulation
- Neuroscience and Neuropharmacology Research
- Diet and metabolism studies
- Ion channel regulation and function
Amgen (United States)
2014
Clinical genetic studies have shown that loss of Nav1.7 function leads to the complete acute pain perception. The global deletion is reported lethal in mice, however, and mice with promoter-specific deletions suggested role transduction depends on precise form pain. We developed animal husbandry strategies overcame neonatal-lethal phenotype enabled construction a knockout mouse. Knockouts were anatomically normal, reached adulthood, had wholly analogous human congenital indifference (CIP):...
To evaluate the impact of pediatric sleep disturbances and night-time seizure monitoring children with rare epilepsy syndromes on quality mental health caregivers. A cross-sectional study was conducted using caregiver entered data from Rare Epilepsy Network Patient Reported Outcomes Measurement Information System measures for fatigue, disturbance, sleep-related impairment, depression, anxiety, companionship, cognition. Logistic regression used to examine associations between risk factors...
Background: SLC13A5 Citrate Transporter Disorder is a rare pediatric neurodevelopmental disorder. Patients have epilepsy, developmental disability, and impaired mobility. While sleep disorders are common in children with disorders, abnormalities not been reported patients. Methods: Here, we assessed disturbances patients through caregiver surveys transgenic mouse model of deficiency. A total 26 were evaluated the Sleep Disturbance Scale for Children three times over one-year span. wake...
To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental epileptic encephalopathy 25, DEE25), a rare genetic early infantile caused by deficiency sodium-citrate transporter, characterized heavy seizure burden neonatal period. We analyzed longitudinal neurodevelopmental outcomes from prospective natural history study DEE25, using standardized assessments Mullen Scales Early Learning, Peabody Developmental...