Abstract
Variants in the gene SCN1A are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to Dravet syndrome. Focal onset seizures and structural lesions can be present in these patients and the question arises whether epilepsy surgery should be considered. We report eight patients (mean age 13y 11mo [SD 8y 1mo], range 3-26y; four females, four males) with SCN1A variants, who underwent epilepsy surgery. Outcomes were variable and seemed to be directly related to the patient's anatomo-electroclinical epilepsy phenotype. Patients with Dravet syndrome had unfavourable outcomes, whilst patients with focal epilepsy, proven to arise from a single structural lesion, had good results. We conclude that the value of epilepsy surgery in patients with an SCN1A variant rests on two issues: understanding whether the variant is pathogenic and the patient's anatomo-electroclinical phenotype. Careful evaluation of epilepsy phenotype integrated with understanding the significance of genetic variants is essential in determining a patient's suitability for epilepsy surgery. Patients with focal onset epilepsy may benefit from epilepsy surgery, whereas those with Dravet syndrome do not. WHAT THIS PAPER ADDS: Patients should not automatically be excluded from epilepsy surgery evaluation if they carry an SCN1A variant. Patients with focal epilepsy may benefit from epilepsy surgery; those with Dravet syndrome do not.
Highlights
AIKATERINI VEZYROGLOU1,2 | SOPHIA VARADKAR2 | THOMAS BAST3,4 | EDOUARD HIRSCH5 | KARL STROBL3 | A SIMON HARVEY6 | EPILEPSY SURGERY IN SCN1A STUDY GROUP,* | INGRID E SCHEFFER6,7 | SANJAY M SISODIYA8 | J HELEN CROSS1,2
Focal onset seizures and structural lesions can be present in these patients and the question arises whether epilepsy surgery should be considered
We conclude that the value of epilepsy surgery in patients with an SCN1A variant rests on two issues: understanding whether the variant is pathogenic and the patient’s anatomo-electroclinical phenotype
Summary
There is increasing interest in whether a pathogenic variant in SCN1A precludes successful epilepsy surgery. We describe a series of eight patients with SCN1A variants who underwent epilepsy surgery. Those who had focal onset seizures with concordant preoperative investigations benefited from focal resection, whereas those with a clinical phenotype of Dravet syndrome had poor postoperative outcome, despite resection of a structural lesion. Little has been published about the outcome of epilepsy surgery in patients with SCN1A variants. Barba et al.[7] described two patients with Dravet syndrome and SCN1A pathogenic variants who underwent epilepsy surgery for associated structural lesions, both with poor outcomes. Skjei et al.[8] reported six patients with SCN1A variants who had epilepsy surgery, again with poor outcomes. Five patients had classical Dravet syndrome and one had GEFS+ with a history of severe head trauma
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