Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report
Abstract 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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-10-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13052-020-00916-2 |