Understanding how genetic mutations affect brain function in epilepsy
Mechanisms of altered synaptic integration and plasticity underlying cellular and circuit dysfunction in genetic epilepsy disorders
['FUNDING_R01'] · UNIVERSITY OF TEXAS AT AUSTIN · NIH-10811581
This study is looking at how certain genetic changes in people with specific types of epilepsy, like Dravet syndrome, affect brain function and learning, using mice to help find new ways to improve treatments for those who have these conditions.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF TEXAS AT AUSTIN (nih funded) |
| Locations | 1 site (AUSTIN, UNITED STATES) |
| Trial ID | NIH-10811581 on ClinicalTrials.gov |
What this research studies
This research investigates the cellular mechanisms that lead to disruptions in brain function and learning in patients with genetic epilepsy disorders, specifically focusing on Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome. By studying a mouse model with a specific genetic mutation, the researchers aim to uncover how these mutations affect synaptic integration and plasticity, which are crucial for information processing and memory. The study will involve detailed examinations of neuronal activity and the physiological changes that occur in the brain due to these genetic alterations. The ultimate goal is to identify potential therapeutic targets to improve treatment options for affected patients.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Generalized Epilepsy with Febrile Seizures Plus or Dravet syndrome, particularly those with SCN1B gene mutations.
Not a fit: Patients with epilepsy not linked to genetic mutations or those with other forms of epilepsy may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve seizure control and cognitive function in patients with genetic epilepsy disorders.
How similar studies have performed: Other research has shown promising results in understanding genetic influences on epilepsy, making this approach both relevant and potentially impactful.
Where this research is happening
AUSTIN, UNITED STATES
- UNIVERSITY OF TEXAS AT AUSTIN — AUSTIN, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: HOWARD, MACKENZIE A — UNIVERSITY OF TEXAS AT AUSTIN
- Study coordinator: HOWARD, MACKENZIE A
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.