Epilepsy surgery as a treatment option for select patients with PCDH19-related epilepsy

Area of Science:

• Epilepsy Genetics
• Neurosurgery
• Pediatric Neurology

Background:

• PCDH19 gene variants are a common cause of epilepsy, frequently presenting with medication-resistant, fever-related seizures.
• Historically, surgical intervention has not been a standard treatment for PCDH19-related epilepsy.
• Identifying effective treatment strategies for this specific epilepsy subtype remains a clinical challenge.

Purpose of the Study:

• To evaluate the efficacy of epilepsy surgery in patients with PCDH19 gene variants.
• To determine if surgical candidates can be identified based on specific clinical and diagnostic criteria.
• To challenge the traditional view of surgical ineligibility for PCDH19-related epilepsy.

Main Methods:

• Retrospective review of three pediatric patients with pathogenic PCDH19 variants.
• Inclusion criteria: childhood onset seizures, single seizure semiology, medication resistance, and concordant imaging, semiology, and electrographic findings.
• All patients underwent temporal lobectomy.

Main Results:

• All three patients achieved complete seizure freedom following temporal lobectomy.
• The surgical outcomes suggest that selected patients with PCDH19 epilepsy can benefit from surgical intervention.
• Concordant clinical, imaging, and electrophysiological data were key in patient selection.

Conclusions:

• Epilepsy surgery, specifically temporal lobectomy, can be a viable and effective treatment for select patients with PCDH19-related epilepsy.
• Patients with PCDH19 variants and a single seizure semiology may be suitable candidates for surgical evaluation.
• These findings expand treatment options for medication-resistant PCDH19 epilepsy.