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Published on: September 20, 2024
Epilepsy surgery in PCDH 19 related developmental and epileptic encephalopathy: A case report
Lakshmi Nagarajan1,2, Soumya Ghosh1,3, Jason Dyke2,4
1Children's Neuroscience Service, Dept of Neurology, Perth Children's Hospital, Nedlands, WA 6009, Australia.
Insights
This case study details a young girl with PCDH19 epilepsy, experiencing drug-resistant seizures and developmental delays. Epilepsy surgery significantly reduced seizure frequency, but breakthrough seizures occurred during a COVID-19 infection.
Area of Science:
- Pediatric Neurology
- Epileptology
- Neurogenetics
Background:
- PCDH19-related epilepsy is a severe genetic disorder causing developmental and epileptic encephalopathy.
- Early-onset, drug-resistant seizures are characteristic, often accompanied by cognitive and behavioral impairments.
Observation:
- A female child presented with PCDH19 epilepsy at 10 months, exhibiting drug-resistant seizures, developmental stagnation, and regression.
- Ictal EEG and MRI suggested a left temporal lobe origin for seizures.
- The patient underwent a left temporal lobectomy at 2 years and 3 months.
Findings:
- Epilepsy surgery resulted in a significant reduction in seizure frequency and severity (Engel class 3).
- The patient achieved 10 months of seizure freedom post-surgery.
- A breakthrough seizure cluster occurred during COVID-19 infection, impacting developmental trajectory.
Implications:
- Temporal lobectomy can be a viable option for managing severe PCDH19 epilepsy, offering substantial seizure control.
- PCDH19 epilepsy patients may require vigilant monitoring for seizure recurrence, especially during intercurrent illnesses.
- Despite challenges, continued rehabilitation can support cognitive and language skill development in these patients.
Abstract:
We report a female child with PCDH19 related developmental and epileptic encephalopathy with drug-resistant seizures, cognitive and language impairment, autism spectrum disorder and sleep dysfunction. Her seizures, which started at 10 months of age, were resistant to multiple anti-seizure medications. Developmental stagnation followed by regression occurred after the onset of recurrent seizures. Her ictal EEGS suggested left temporal lobe origin for her recorded seizures. MRI upon expert re-review showed a subtle abnormality in the left temporal lobe. In view of the severe nature and frequency of her seizures, a left temporal lobectomy was undertaken at the age of 2 years and 3 months. Though her seizure outcome was Engel class 3, her seizure frequency and severity were significantly reduced. She has been seizure-free for 10 months at her last outpatient assessment when she was 4 years and 8 months of age (2 years and 5 months after epilepsy surgery). However she recently had an admission for COVID19 infection, with a breakthrough cluster of seizures. Her developmental trajectory changed, though she is making good progress with her cognitive and language skills.
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