Authors :
Presenting Author: Julia Vieira, MD – Clinica Cukiert
Jose Augusto Burratini, MD – Clinica Cukiert; Rafael Guimaraes, MD – Clinica Cukiert; Vanessa Lessa, MD – Clinica Cukiert; João Paulo Oliveira, MD – Clinica Cukiert; cristine Cukiert, MD – Clinica Cukiert; Arthur Cukiert, MD, PHD – Clinica Cukiert
Rationale:
Genetic etiologies are increasingly recognized in patients with DRE and include pathogenic variants of genes encoding ion channels, receptors, and synaptic protein (1). Previous studies have mostly focused on the efficacy of VNS and CMDBS in patients harboring variants of the SCN1A or TSC1/TSC2 gene, but there have been few reports on patients with drug resistant epilepsy and other genetic mutations treated with neuromodulation.
Methods:
We studied ten patients with DRE of monogenic etiology who underwent VNS or DBS. Their genetic mutation was confirmed by whole-exome sequencing, or by chromosome copy number variation (CNV) sequencing.
A responder was defined as a patient with more than a 50% reduction in seizure frequency after surgical treatment, compared with the preoperative baseline value. Seizure freedom was defined as freedom from seizures for at least six months.
Results:
There were seven males and ages ranged from 10 to 56 years old. The most frequent mutation found was SCN8A’s (30%). Nine patients (90%) were submitted to VNS therapy (one previously submitted to callosotomy), one had DBS alone (previously submitted to callosotomy), and four patients (40%) had DBS following initial VNS therapy.
The most frequent seizure type was absence (90%); 70% of the patients had tonic, 80% had generalized tonic-clonic, 20% had atonic, and 50% had myoclonic seizures. All patients had focal/multifocal and generalized interictal EEG abnormalities. A total of 70% had normal MRI.
Absences had the best response to neuromodulation. Eight patients with absences were responders: three patients were absence-free and one patient didn’t respond.
Conclusions:
VNS and DBS have proved to be effective in the treatment of generalized and focal epilepsy. There is no adequate comparison between the outcome during VNS or DBS in patients with or without genetic etiologies. Our cohort showed that patients with genetic mutations and normal MRI might have a good outcome during neuromodulation therapy and that both VNS or DBS should be considered while treating this challenging patient population.
Funding: No funding