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Berardinelli-Seip syndrome and progressive myoclonus epilepsy Volume 21, issue 1, February 2019

  • [Opri et al., 2016] Opri R., Fabrizi G.M., Cantalupo G. Progressive myoclonus epilepsy in congenital generalized lipodystrophy type 2: report of 3 cases and literature review. Seizure. 2016;42:1-6.
  • [Guillén-Navarro et al., 2013] Guillén-Navarro E., Sánchez-Iglesias S., Domingo-Jiménez R. A new seipin-associated neurodegenerative syndrome. J Med Genet. 2013;50:401-409.
  • [Tseng et al., 2009] Tseng C.F., Ho C.S., Chiu N.C., Lin S.P., Tzen C.Y., Wu Y.H. Lafora disease and congenital generalized lipodystrophy: a case report. Kaohsiung J Med Sci. 2009;25:663-668.
  • [Ruiz-Riquelme et al., 2015] Ruiz-Riquelme A., Sánchez-Iglesias S., Rábano A. Larger aggregates of mutant seipin in Celia's encephalopathy, a new protein misfolding neurodegenerative disease. Neurobiol Dis. 2015;83:44-53.