Efficacy of Cenobamate in the Treatment of Refractory Seizures in Patients with Chromosome 8 Partial Deletion: A Case Report
Abstract number :
3.43
Submission category :
7. Anti-seizure Medications / 7E. Other
Year :
2024
Submission ID :
336
Source :
www.aesnet.org
Presentation date :
12/9/2024 12:00:00 AM
Published date :
Authors :
Nikhita Suzanne Roshan, MBBS – Jersey Shore University Medical Center, Hackensack School of Medicine, Hackensack Meridian Health System
Presenting Author: Arun Antony, MD – Jersey Shore University Medical Center, Hackensack School of Medicine, Hackensack Meridian Health System.
Rajesh Sachdeo, MD – Jersey Shore University Medical Center, Hackensack Meridian Health System
Rahul Guha, MD – Jersey Shore University Medical Center, Hackensack Meridian Health System
Rationale:
Cenobamate is a novel anti-seizure medication (ASM) that works as a positive allosteric modulator of GABAA receptors by blocking constant sodium currents which in turn maintains the inactive state of the voltage-gated sodium channels (1). The prevalence of epilepsy in Chromosome 8p deletion is approximately 25% (2). We present a patient with Chromosome 8p deletion and refractory seizures treated with Cenobamate.
Methods:
A 22-year-old woman with a history of Lennox-Gastaut syndrome, refractory seizures since the age of ten years, speech delay, intellectual disability, behavioural abnormalities and chromosome 8p deletion, presented with recurrent breakthrough seizures. Multiple ASMs, including Topiramate, Phenytoin, Lorazepam, Levetiracetam and Cannabidiol failed to yield significant improvement. Repeat genetic testing confirmed the presence of a 5.09 megabase deletion of 8p23.3. An MRI of the brain showed malformation of cortical development involving the left temporal lobe but a PET scan did not detect focal hypometabolism. A video EEG detected left central temporal interictal spikes and polyspikes. One focal impaired awareness seizure was recorded from the left central temporal region.
Results:
We observed a significant reduction ( >90%) in seizure frequency in a short period of 3 months following the administration of Cenobamate in our patient with refractory seizures and Chromosome 8p deletion. Furthermore, it led to a reduction in the daily medication burden, suggesting a potential avenue for investigation into its impact on medication adherence.
Conclusions:
Our report aims to emphasize the therapeutic potential of Cenobamate in managing refractory seizures, particularly in patients with genetic abnormalities such as Chromosome 8p deletion. These results highlight the need for continued investigation into Cenobamate's efficacy and safety profile, as well as its role in optimizing seizure management strategies for this patient population.
Funding: None
Anti-seizure Medications