# Genetic and transcriptomic profiling of the epileptic network in patients with surgically treated seizures

> **NIH NIH R21** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2022 · $242,250

## Abstract

PROJECT SUMMARY
Medically-refractory epilepsy affects nearly 1 in 300 people, and for these patients resective brain surgery may
be the only change for seizure freedom. Patients with abnormal neuroimaging findings which correlate with
abnormal electroencephalography (EEG) activity have the best chance of seizure freedom after epilepsy
surgery. In patients without clear neuroimaging abnormalities, stereo-EEG (sEEG) can localize an epileptic
lesion and increase the success of a future resective surgery. sEEG is a minimally invasive procedure where
electrodes are placed throughout, and within the brain to identify the seizure onset zone, peri-epileptic network
and nonepileptic brain regions. After sEEG electrode removal, adherent cells can be used to evaluate genomic
material in order to better understand the molecular processes that define an epileptic network. The overall
objective of this application is to understand the mechanisms in the development of intractable epilepsy with
the goal of developing a precision medicine approach to therapy. We will evaluate the genetics and
transcriptomics of brain tissue resected in children and young adults with intractable epilepsy undergoing
sEEG followed by resective surgery. Our central hypothesis that patients who develop intractable epilepsy
have 1) somatic mutations in epilepsy-related molecular pathways which are not present in the germline and
2) unique gene expression profiles will be identified in epileptic tissue with dysregulation of
known neurotransmitter and inflammatory pathways, compared to peri-epileptic and non-epileptic brain tissue.

## Key facts

- **NIH application ID:** 10528013
- **Project number:** 1R21NS123461-01A1
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Adam Lawrence Numis
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $242,250
- **Award type:** 1
- **Project period:** 2022-07-15 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10528013

## Citation

> US National Institutes of Health, RePORTER application 10528013, Genetic and transcriptomic profiling of the epileptic network in patients with surgically treated seizures (1R21NS123461-01A1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10528013. Licensed CC0.

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