Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
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DOI: 10.1007/s10072-020-04780-0
Abstract: We have read the report of congenital generalized lipodystrophy (CGL) type 2 by Ferranti et al. [1] with interest. The authors report the case of two sisters with progressive myoclonic epilepsy (PME) associated to type… read more here.
Keywords: progressive myoclonic; myoclonic epilepsy; seip syndrome; berardinelli seip ... See more keywords
Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy
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DOI: 10.1093/hmg/ddad016
Abstract: Abstract Berardinelli–Seip congenital lipodystrophy type 2 (CGL2) is a very rare human genetic disorder with potential significance to the understanding of the pathobiology of aging. CGL2 patients display characteristic progeroid features and suffer from type… read more here.
Keywords: dna; cgl2 patients; methylation alterations; dna methylation ... See more keywords