Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI
Patrick W Carney1, A Simon Harvey, Samuel F Berkovic
1Epilepsy Research Centre, Austin Health, Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.
Insights
Siblings with refractory occipital epilepsy, a rare genetic condition, experienced frequent visual seizures. Their condition, potentially a form of Gastaut syndrome, persisted into adolescence, suggesting unique genetic factors.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Benign occipital epilepsies of childhood include Panayiotopoulos and Gastaut syndromes.
- Idiopathic photosensitive occipital epilepsy can manifest in childhood or adolescence.
Observation:
- We report on siblings presenting with refractory, frequent, brief visual seizures.
- Magnetic resonance imaging (MRI) revealed normal results in affected siblings.
- Electroencephalography (EEG) combined with functional MRI (fMRI) localized interictal epileptiform activity to the occipital lobes.
Findings:
- The siblings exhibit characteristics of Gastaut syndrome but with unusual persistent, refractory seizures into adolescence.
- Evidence suggests a shared genetic basis for focal epilepsy within a localized occipital network.
- The refractory nature of seizures in adolescence points towards specific underlying genetic determinants.
Implications:
- This case highlights the potential for genetic factors to influence the presentation and refractoriness of occipital epilepsy.
- Further research into the genetic underpinnings of occipital epilepsy is warranted.
- Understanding these genetic determinants could lead to more targeted therapeutic strategies for refractory epilepsy syndromes.
Abstract:
The benign occipital epilepsies of childhood include Panayiotopoulos and Gastaut syndromes; a third syndrome, idiopathic photosensitive occipital epilepsy may also begin in childhood or adolescence. We describe siblings with occipital epilepsy characterized by refractory, frequent, brief visual seizures and normal magnetic resonance imaging (MRI). Electroencephalography (EEG) with functional MRI (fMRI) supports localization of interictal epileptiform activity to the occipital lobes. Our hypothesis is that the siblings share a genetic focal epilepsy arising from a localized occipital network. Although they share many features of Gastaut syndrome, their refractory ongoing seizures in adolescence is unusual and likely due to underlying genetic determinants.
