Abstract
4225 Evaluation of Neurotransmitters in Channelopathy-Related Epilepsy
Journal of clinical and translational science, Vol.4(Suppl 1), pp.95-95
06/01/2020
DOI: 10.1017/cts.2020.298
Abstract
OBJECTIVES/GOALS: Variants in voltage-gated sodium channels (VGSC) are a common cause of severe early onset epilepsy. Changes in CSF neurotransmitters (NT) were identified in 2 cases of VGSC-related epilepsy. Here we investigate NT changes in patients and a novel mouse model of VGSC-related epilepsy. METHODS/STUDY POPULATION: We conducted a single site IRB approved retrospective chart review of patients with VGSC-related epilepsy who underwent CSF NT testing for diagnostic purposes. In parallel, we examined NT levels from the brains of wild-type (WT) and a novel VGSC-related epilepsy mouse model after obtaining IACUC approval. We rapidly isolated forebrain, cortex, striatum, and brainstem from 5-6 animals per sex and genotype. A combination of HPLC with electrochemical detection and mass spectrometry were used to quantify NT levels from brain samples. RESULTS/ANTICIPATED RESULTS: We identified 10 patients with VGSC-related epilepsy who received CSF NT testing. Two of these patients had abnormal NT results including changes to dopamine (DA) or serotonin (5-HT) metabolites. We analyzed NT levels from four brain regions from male and female WT and VGSC-related epilepsy mice. We anticipate that most of the NT levels will be similar to WT, however subtle changes in the DA or 5-HT metabolites may be seen in VGSC-related epilepsy. DISCUSSION/SIGNIFICANCE OF IMPACT: Patients with VGSC-related epilepsy often have autism spectrum disorder, sleep, and movement disorders. Understanding the role of aberrant NT levels in VGSC-related epilepsy may provide additional therapeutic targets that address common neuropsychological comorbidities as well as seizures.
Details
- Title: Subtitle
- 4225 Evaluation of Neurotransmitters in Channelopathy-Related Epilepsy
- Creators
- Sunita N Misra - Northwestern UniversityTheresa M. Czech - Northwestern UniversityJennifer A. Kearney - Northwestern University
- Resource Type
- Abstract
- Publication Details
- Journal of clinical and translational science, Vol.4(Suppl 1), pp.95-95
- DOI
- 10.1017/cts.2020.298
- ISSN
- 2059-8661
- eISSN
- 2059-8661
- Publisher
- Cambridge University Press
- Language
- English
- Date published
- 06/01/2020
- Academic Unit
- Stead Family Department of Pediatrics; Neurology (Pediatrics)
- Record Identifier
- 9984697048602771
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