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Developmental and epileptic encephalopathies: what we do and do not know.

发育性和癫痫性脑病: 我们做什么和不知道什么。

  • 影响因子:7.52
  • DOI:10.1093/brain/awaa371
  • 作者列表:"Specchio N","Curatolo P
  • 发表时间:2021-02-12
Abstract

:Developmental encephalopathies, including intellectual disability and autistic spectrum disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to describe an assumed causal relationship between epilepsy and developmental delay. Developmental encephalopathies pathogenesis more independent from epilepsy is supported by the identification of several gene variants associated with both developmental encephalopathies and epilepsy, the possibility for gene-associated developmental encephalopathies without epilepsy, and the continued development of developmental encephalopathies even when seizures are controlled. Hence, 'developmental and epileptic encephalopathy' may be a more appropriate term than epileptic encephalopathy. This update considers the best studied 'developmental and epileptic encephalopathy' gene variants for illustrative support for 'developmental and epileptic encephalopathy' over epileptic encephalopathy. Moreover, the interaction between epilepsy and developmental encephalopathies is considered with respect to influence on treatment decisions. Continued research in genetic testing will increase access to clinical tests, earlier diagnosis, better application of current treatments, and potentially provide new molecular-investigated treatments.

摘要

: 发育性脑病,包括智力障碍和自闭症谱系障碍,经常与婴儿癫痫有关。癫痫性脑病用于描述癫痫和发育迟缓之间假定的因果关系。发育性脑病的发病机制更独立于癫痫,这得到了与发育性脑病和癫痫相关的几种基因变异的鉴定、无癫痫的基因相关发育性脑病的可能性以及即使在癫痫发作得到控制的情况下仍继续发展发育性脑病的支持。因此,“发育性和癫痫性脑病” 可能是比癫痫性脑病更合适的术语。本更新考虑了最佳研究的 “发育性和癫痫脑病” 基因变异,以说明性支持 “发育性和癫痫脑病” 而不是癫痫性脑病。此外,考虑癫痫和发育性脑病之间的相互作用对治疗决策的影响。基因检测的持续研究将增加临床检测的可及性,早期诊断,更好地应用当前的治疗方法,并可能提供新的分子研究治疗方法。

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DOI:10.1007/s11033-021-06155-w
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影响因子:2.68
发表时间:2021-02-01
DOI:10.1080/14656566.2020.1814255
作者列表:["Sawada H","Oeda T","Kohsaka M","Tomita S","Umemura A","Park K","Yamamoto K","Kiyohara K"]

METHODS:BACKGROUND:Cholinergic neurotransmission regulates neuroinflammation in Parkinson disease (PD). RESEARCH DESIGN AND METHODS:The authors conducted a delayed-start study of donepezil for cognitive decline in non-demented PD patients. The study consisted of a 96-week randomized placebo-controlled double-blind phase 1, followed by a 24-week donepezil extension phase 2. The primary outcome measure was a change in the Mini-Mental State Examination (MMSE) at week 120. RESULTS:A total of 98 patients were randomly allocated to the early-start (donepezil-to-donepezil) and delayed-start (placebo-to-donepezil) groups. Mean (SD) of the baseline MMSE was 27.6 (2.0) and 28.0 (2.1), respectively. MMSE change at week 120 was better in the early-start group than in the delayed-start group, but the difference was not significant. The MMSE declined in apolipoprotein ε4 carriers, but not in non-carriers, and the factor interaction (intervention × ε4 genotype) was highly significant (P < 0.001). Analyzed with the interaction, the difference was significant (group difference 1.95 [0.33 to 3.57], P = 0.018). The MMSE decline slope in phase 1 was significantly better in the early-start group than in the delayed-start group (P = 0.048). CONCLUSIONS:Cognitive function deteriorated in ε4 carriers, but not in non-carriers, and early-start donepezil may postpone cognitive decline in the former.

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发表时间:2021-03-24
DOI:10.1007/s11033-021-06299-9
作者列表:["Louvrier A","Terranova L","Meyer C","Meyer F","Euvrard E","Kroemer M","Rolin G"]

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