John Libbey Eurotext

Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant Volume 23, numéro 5, October 2021

1 Department of Pediatrics, Child Neurology Unit, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy
2 Child Neuropsychiatry Unit, Neuroscience Division, Medicine & Surgery Department, University of Parma, Parma, Italy
3 Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL- IRCCS di Reggio Emilia, Reggio Emilia, Italy
* Correspondence: Silvia Schiavoni S.C. Neuropsichiatria Infantile, Presidio Ospedaliero Provinciale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, viale Risorgimento, n̊ 80, 42100 Reggio Emilia, Italy

Although neurobeachin (NBEA) de novo genetic variants have been mainly reported in patients with neurodevelopmental disorders (NDD), they have also been recently associated with early childhood epilepsy. We report an 11-year-old boy who was first evaluated at 34 months of age because of drug-resistant epileptic encephalopathy. He also had developmental delay and prominent autistic features. Whole-exome sequencing (WES) disclosed a pathogenic NBEA c.5258_5279del, p.(Ala1753Valfs*13) variant, occurring de novo and a paternally-inherited heterozygous NBEA c.416T>C p.(Met139Thr) variant of uncertain significance (VUS). The patient showed good response to the ketogenic diet, suggesting that this therapy may be an effective option for patients with seizures who carry NBEA variants.