A5032739545- Neuroscience and Neuropharmacology Research
- Metabolism and Genetic Disorders
- Receptor Mechanisms and Signaling
- Mitochondrial Function and Pathology
- Neurotransmitter Receptor Influence on Behavior
- Biochemical and Molecular Research
- Epilepsy research and treatment
- Nuclear Receptors and Signaling
- Neurological disorders and treatments
- Metalloenzymes and iron-sulfur proteins
- Memory and Neural Mechanisms
- Herpesvirus Infections and Treatments
- Nicotinic Acetylcholine Receptors Study
- Neurological diseases and metabolism
- Genetics and Neurodevelopmental Disorders
- Retinal Development and Disorders
- Chemical Reactions and Isotopes
- Genomics and Rare Diseases
- Autoimmune Neurological Disorders and Treatments
Rady Children's Hospital-San Diego
2020-2025
University of California, San Diego
2020-2025
Child Neurology Associates
2020
Vanderbilt University
2012-2015
University School of Nashville
2010-2011
Few studies have explored the efficacy of laser interstitial thermal therapy in pediatric epilepsy surgery. This study aims to evaluate seizure-free outcomes children and adolescents with mesial temporal lobe who underwent therapy. was a retrospective cohort performed at level 4 center. All patients had comprehensive presurgical evaluations consensus treatment decision made by multidisciplinary team. Brain magnetic resonance imaging (MRI) data were used determine lesional vs nonlesional...
Many neurotransmitters, hormones, and sensory stimuli elicit their cellular responses through the targeted activation of receptors coupled to G(αq) family heterotrimeric G proteins. Nevertheless, we still understand little about consequences loss this signaling activity on brain function. We therefore examined effects genetic inactivation Gnaq, gene that encode for G(αq), responsiveness in a battery behavioral tests order assess contribution capacity circuits mediating expression affective...
Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant NFS1 has been previously reported to cause infantile complex II III deficiency. We describe three additional unrelated patients with same missense variant. Two infants homozygous presented hypotonia, weakness lactic acidosis, one patient compound heterozygous p.(Arg412His) variants as a...
We present a case of young child with rare metabolic disorder whose clinical presentation resembled that autoimmune myasthenia gravis. The differential diagnosis was expanded when autoantibody testing negative and the patient did not respond to standard immunomodulatory therapies. Rapid whole genome sequencing identified 2 variants uncertain significance in SLC52A3 gene shown be compound heterozygous state after parental testing. Biallelic mutations are associated Riboflavin Transporter...
Abstract Diagnosing anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis clinically can be challenging. There is a growing interest in identifying specific electroencephalographic features to help guide early management. A retrospective chart review was conducted of pediatric patients admitted Rady Children's Hospital between January 1, 2010 and April 2017. We included with the diagnosis who underwent continuous video electroencephalogram (VEEG) for at least 12 hours, presented less than...
Thursday, April 30April 14, 2020Free AccessUridine Supplementation for Treatment of Epileptic Encephalopathy from Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase and Dihydroorotase (CAD) Gene Mutation (5288)Aliya Frederick, Kimberly Sherer, Linda Nguyen, Michelle Sahagian, Richard HaasAuthors Info & AffiliationsApril 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.5288 Letters to the Editor