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Article

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

Italian journal of pediatrics - 24 Oct 2020

Pedicelli Stefania, de Palma Luca, Pelosini Caterina, Cappa Marco

Abstract excerpt

BACKGROUND: 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 lipodystrophy (PELD), which is characterized by the development of progressive myoclonic epilepsy at a young age, severe progressive neurological impairment, and early death, often in childhood. Because...

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Identifiers

PMID: 33099310
DOI: 10.1186/s13052-020-00916-2
PMCID: PMC7585287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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