Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
复制标题
DOI：
10.3390/ijms22084202
复制
发表时间：
2021-04-18
影响因子：
5.6
通讯作者：
Pisani F
中科院分区：
文献类型：
--
作者：
Spagnoli C;Fusco C;Percesepe A;Leuzzi V;Pisani F
尽管扩展了下一代测序技术，并增加了对癫痫和发育性/癫痫性脑病（DE/EE）与运动障碍（MD）相关的复杂神经系统表型的临床兴趣，但与婴儿期相比，这些单基因疾病在新生儿期的研究较少。我们回顾了2000-2020年研究期间的医学文献，报告了以新生儿癫痫发作和/或DE/EE和MD发展为特征的单基因疾病，并描述了其电临床、遗传和神经影像学谱。根据PRISMA声明，我们创建了数据收集表和方案，规定了入选和排除标准。共鉴定了28种不同的基因（来自49篇论文），导致具有多种癫痫发作类型的胎儿发作DE/EE，主要特征为强直性和肌阵挛性，但也有局灶性运动性癫痫发作和89%的条件下的多动性MD，其中22%为新生儿发作。新生儿癫痫症状学或MD发病年龄并非始终可用。运动功能减退性MD的发生率较低，并且仅在新生儿期描述，具有含WW结构域的氧化还原酶（WWOX）致病性变体。结果的特点是相关的神经发育障碍和小头畸形的发生率高。在大多数情况下，脑MRI结果是正常的或非特异性的，但为了检测进行性异常，可能需要连续成像。我们发现了高遗传异质性和低数量的描述患者。神经系统表型是复杂的，反映了早期大脑发育所必需的基因的参与。未来的研究应集中在准确的新生儿癫痫表型，并详细描述的符号学和时间过程中，相关的MD，特别是对于最罕见的条件。
Despite expanding next generation sequencing technologies and increasing clinical interest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic conditions have been less extensively investigated in the neonatal period compared to infancy. We reviewed the medical literature in the study period 2000–2020 to report on monogenic conditions characterized by neonatal onset epilepsy and/or DE/EE and development of an MD, and described their electroclinical, genetic and neuroimaging spectra. In accordance with a PRISMA statement, we created a data collection sheet and a protocol specifying inclusion and exclusion criteria. A total of 28 different genes (from 49 papers) leading to neonatal-onset DE/EE with multiple seizure types, mainly featuring tonic and myoclonic, but also focal motor seizures and a hyperkinetic MD in 89% of conditions, with neonatal onset in 22%, were identified. Neonatal seizure semiology, or MD age of onset, were not always available. The rate of hypokinetic MD was low, and was described from the neonatal period only, with WW domain containing oxidoreductase (WWOX) pathogenic variants. The outcome is characterized by high rates of associated neurodevelopmental disorders and microcephaly. Brain MRI findings are either normal or nonspecific in most conditions, but serial imaging can be necessary in order to detect progressive abnormalities. We found high genetic heterogeneity and low numbers of described patients. Neurological phenotypes are complex, reflecting the involvement of genes necessary for early brain development. Future studies should focus on accurate neonatal epileptic phenotyping, and detailed description of semiology and time-course, of the associated MD, especially for the rarest conditions.
登录
查看更多内容
影响因子：
5.6
作者：
Carecchio M;Mencacci NE
通讯作者：
Mencacci NE
影响因子：
5.6
作者：
Denis, Julien;Villeneuve, Nathalie;Milh, Mathieu
通讯作者：
Milh, Mathieu
影响因子：
9.9
作者：
Aran, Adi;Rosenfeld, Nuphar;Levy-Lahad, Ephrat
通讯作者：
Levy-Lahad, Ephrat
影响因子：
3.5
作者：
Graziano, Claudio;Wischmeijer, Anita;Seri, Marco
通讯作者：
Seri, Marco
影响因子：
3.1
作者：
Blumkin, Lubov;Suls, Arvid;Lerman-Sagie, Tally
通讯作者：
Lerman-Sagie, Tally