Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report

A number of genetic syndromes associated with variants in the BSCL2/seipin gene have been identified. Variants that cause skipping of exon 7 are associated with progressive encephalopathy with/without lipodystrop...

Source: Italian Journal of Pediatrics - October 24, 2020 Category: Pediatrics Authors: Stefania Pedicelli, Luca de Palma, Caterina Pelosini and Marco Cappa Tags: Case report Source Type: research