Article
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Pediatric neurology - 1 Sept 2024
Ferretti Alessandro, Furlan Margherita, Glinton Kevin E, Fenger Christina D, Boschann Felix, Amlie-Wolf Louise, Zeidler Shimriet, Moretti Raffaella, Stoltenburg Corinna, Tarquinio Daniel C, Furia Francesca, Parisi Pasquale, Rubboli Guido, Devinsky Orrin, Mignot Cyril, Gripp Karen W, Møller Rikke S, Yang Yaping, Stankiewicz Pawel, Gardella Elena
Abstract excerpt
BACKGROUND: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to BPTF gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL. METHODS: We...
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