Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04418-1.pdf
Reference10 articles.
1. Patni N, Garg A (2015) Congenital generalized lipodystrophies—new insights into metabolic dysfunction. Nat Rev Endocrinol 11(9):522–534. https://doi.org/10.1038/nrendo.2015.123
2. Opri R, Fabrizi GM, Cantalupo G, Ferrarini M, Simonati A, Dalla Bernardina B, Darra F (2016) Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review. Seizure. 42:1–6. https://doi.org/10.1016/j.seizure.2016.08.008
3. Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM (2016) Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr 8:23. https://doi.org/10.1186/s13098-016-0140-x
4. Tseng CF, Ho CS, Chiu NC, Lin SP, Tzen CY, Wu YH (2009) Lafora disease and congenital generalized lipodystrophy: a case report. Kaohsiung J Med Sci 25(12):663–668. https://doi.org/10.1016/S1607-551X(09)70572-8
5. Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D (2013) A new seipin-associated neurodegenerative syndrome. J Med Genet 50(6):401–409. https://doi.org/10.1136/jmedgenet-2013-101525
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review;Journal of Pediatric Endocrinology and Metabolism;2022-11-28
2. Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding;Journal of Clinical Medicine;2021-04-01
3. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome;Neurological Sciences;2020-10-21
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