Case Report: A case of progressive encephalopathy with or without lipodystrophy caused by BSCL2 variant and literature review

ObjectivesTo describe a case of Progressive Encephalopathy with or without Lipodystrophy (PELD), characterized by a late onset of neurological regression at 9 years old, due to a homozygous c.974dupG variant in the BSCL2 gene.MethodsAn 11-year, 9-month-old girl with repeated seizures over 2 years un...

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Hauptverfasser:	Yao Wang, Jing Guo, Peiqi Zhang, Fang Liu, Hua Li
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2025-02-01
Schriftenreihe:	Frontiers in Genetics
Schlagworte:	BSCL2 gene progressive encephalopathy with or without lipodystrophy celia’s encephalopathy progressive myoclonus epilepsy neurological regression
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1528563/full
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