Article
GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2021
Benova Barbora, Sanders Maurits W C B, Uhrova-Meszarosova Anna, Belohlavkova Anezka, Hermanovska Barbora, Novak Vilem, Stanek David, Vlckova Marketa, Zamecnik Josef, Aronica Eleonora, Braun Kees P J, Koeleman Bobby P C, Jansen Floor E, Krsek Pavel
Abstract excerpt
BACKGROUND: Variants of GATOR1-genes represent a recognised cause of focal cortical dysplasia (FCD), the most common structural aetiology in paediatric drug-resistant focal epilepsy. Reports on familial cases of GATOR1-associated FCD are limited, especially with respect to epilepsy surgery outcomes. METHODS: We present phenotypical manifestations of four unrelated patients with drug-resistant focal epilepsy, FCD...
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