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Focal epilepsy in SCN1A‐mutation carrying patients: is there a role for epilepsy surgery?

Developmental Medicine & Child Neurology2020Vol. 62(11), pp. 1331–1335

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Aikaterini Vezyroglou, Sophia Varadkar, Thomas Bast, Édouard Hirsch, Karl Strobl, A. Simon Harvey, Epilepsy Surgery in SCN1A Study Group, Ingrid E. Scheffer, Sanjay M. Sisodiya, J. Helen Cross

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.

Citations Over TimeTop 10% of 2020 papers

Abstract

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