Article
Clinical and histopathological outcomes in patients with SCN1A mutations undergoing surgery for epilepsy.
Journal of neurosurgery. Pediatrics - 1 Dec 2015
Skjei Karen L, Church Ephraim W, Harding Brian N, Santi Mariarita, Holland-Bouley Katherine D, Clancy Robert R, Porter Brenda E, Heuer Gregory G, Marsh Eric D
Abstract excerpt
OBJECT: Mutations in the sodium channel alpha 1 subunit gene (SCN1A) have been associated with a wide range of epilepsy phenotypes including Dravet syndrome. There currently exist few histopathological and surgical outcome reports in patients with this disease. In this case series, the authors describe the clinical features, surgical pathology, and outcomes in 6 patients with SCN1A mutations and refractory...
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