Article
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Human mutation - 1 Feb 2017
Parrini Elena, Marini Carla, Mei Davide, Galuppi Anna, Cellini Elena, Pucatti Daniela, Chiti Laura, Rutigliano Domenico, Bianchini Claudia, Virdò Simona, De Vita Dalila, Bigoni Stefania, Barba Carmen, Mari Francesco, Montomoli Martino, Pisano Tiziana, Rosati Anna, Guerrini Renzo
Abstract excerpt
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive...
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