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 murine model of BSCL2-associated Celia's encephalopathy.
Cobelo-Gómez S et al.
Neurobiology of Disease, 2023
Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y et al.
Biomolecules, 2022
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
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Fernández-Marmiesse A et al.
Seizure, 2019
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