Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding
نویسندگان
چکیده
منابع مشابه
Current understanding of chronic traumatic encephalopathy.
OPINION STATEMENT Chronic traumatic encephalopathy (CTE) is a unique neurodegenerative disease found in individuals with a history of repetitive head impacts. The neuropathology of CTE is increasingly well defined. Prospective, longitudinal studies with post-mortem neuropathologic validation as well as in vivo diagnostic techniques are needed in order to advance the understanding of CTE clinica...
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OBJECTIVE PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). The aim of this study was to evaluate both the process of cellular senescence and the effect of unsaturated fatty acids on preadipo...
متن کاملWhole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
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Posterior reversible encephalopathy syndrome (PRES) [1, 2] is a clinicoradiological entity that was well described by Hinchey et al. [3] in 1996 based on 15 cases, shortly after two other small case-series were published [4, 5]. This condition has been designated by a variety of names (reversible posterior leukoencephalopathy syndrome, reversible posterior cerebral edema syndrome, and reversibl...
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Investigators from the University Leipzig and University of Tübingen report mutations of KCNA2 as a novel cause of epileptic encephalopathy.
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine
سال: 2021
ISSN: 2077-0383
DOI: 10.3390/jcm10071435