Associated Papers
Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review.
Wang Y et al.
Frontiers in Genetics, 2025
A Novel, Heterozygous BSCL2 Variant in Association With Early-Onset Epileptic Encephalopathy.
Stanley NE et al.
Journal of Neuropathology and Experimental Neurology, 2022
Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S et al.
Journal of Clinical Medicine, 2021
Metreleptin for the treatment of progressive encephalopathy with/without lipodystrophy (PELD) in a child with progressive myoclonic epilepsy: a case report.
Pedicelli S et al.
Italian Journal of Pediatrics, 2020
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A et al.
Seizure, 2019
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Sánchez-Iglesias S et al.
Neurogenetics, 2019
Berardinelli-Seip syndrome and progressive myoclonus epilepsy.
Serino D et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
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