更新于：2024-05-01
Epilepsy, Benign Neonatal
新生儿癫痫
更新于：2024-05-01
基本信息
别名 Benign Neonatal Convulsion、Benign Neonatal Convulsions、Benign Neonatal Epilepsies + [46] |
简介 A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) |
关联
靶点 |
作用机制 |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段 |
首次获批国家/地区 |
首次获批日期 |
靶点 |
作用机制 |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段 |
首次获批国家/地区 |
首次获批日期 |
Pilot Study on the Use of a Wearable Remote Electroencephalography Device to Identify Neonates at Risk for Neonatal Seizures and Status Epilepticus
Phenobarbital Versus Levetiracetam Neonatal Convulsion
Adescriptive Study on Incidence of Metabolic Disorders in Neonatal Convulsions
100 项与 新生儿癫痫 相关的临床结果
登录后查看更多信息
100 项与 新生儿癫痫 相关的转化医学
登录后查看更多信息
登录后查看更多信息
2024-02-10Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].
Article
作者: Xin Zhang ; Shiyan Qiu ; Li Yang ; Yufen Li ; Na Xu ; Xixi Yu
OBJECTIVE:
To explore the clinical and genetic characteristics of five children with epilepsies due to variants of SCN8A gene.
METHODS:
Clinical data of five children (four males and one female) admitted to Linyi People's Hospital due to hereditary epilepsies between August 2015 and August 2022 were collected. Whole exome sequencing was carried out for these children, and candidate variants were verified by Sanger sequencing.
RESULTS:
All of the five children were found to harbor variants of the SCN8A gene. Case 1, who had benign familial infantile epilepsy, inherited a known pathogenic c.4840A>G variant from his father with similar symptoms. Cases 2 to 4 had presented with intermediate epilepsy. Among these, case 2 has harbored a de novo c.3967G>A variant which was rated as pathogenic (PS1+PS2+PM1+PM2_Supporting+PP3) based on the guidelines from the American College of Medical Genetics and Genomics. Cases 3 and 4 were found to respectively harbor a de novo c.415A>T and a c.4697C>T variant, which were both rated as likely pathogenic (PS2+PM1+PM2_Supporting+PP3). Case 5, who had early-onset infantile epileptic encephalopathy transformed into Lennox Gastaut-like syndrome, has harbored a de novo c.5615G>A variant, which was known to be pathogenic. The children had their age of onset ranging from 2 to 14 months, and all had focal seizures and generalized tonic clonic seizures. Four children (cases 1, 2, 3 and 5) had cluster seizures, four (cases 1 to 4) had become seizure-free after single or dual treatment and showed normal growth and development, whilst case 5 was drug-resistant and showed severe developmental retardation.
CONCLUSION:
The five children had new features such as cluster seizures, occasional benign seizures in adulthood, and intermediate epilepsy which are prone to relapse after discontinuation of medication, which may be attributed to the pathogenic variants of the SCN8A gene.
2024-02-05European journal of human genetics : EJHG
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Article
作者: Mahmoud Koko ; Maha A Elseed ; Inaam N Mohammed ; Ahlam A Hamed ; Amal S I Abd Allah ; Ashraf Yahia ; Rayan A Siddig ; Janine Altmüller ; Mohammad Reza Toliat ; Esra O Elmahdi ; Mutaz Amin ; Elhami A Ahmed ; Isra Z M Eltazi ; Fatima A Elmugadam ; Wasma A Abdelgadir ; Esraa Eltaraifee ; Mohamed O M Ibrahim ; Nabila M H Ali ; Hiba M Malik ; Arwa M Babai ; Yousuf H Bakhit ; Peter Nürnberg ; Muntaser E Ibrahim ; Mustafa A Salih ; Julian Schubert ; Liena E O Elsayed ; Holger Lerche
Heterozygous PRRT2 variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability. In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy. We evaluated both dominant and recessive inheritance using whole exome sequencing and genomic arrays. We identified a pathogenic homozygous splice-site variant in the first intron of PRRT2 [NC_000016.10(NM_145239.3):c.-65-1G > A] that segregated with the phenotype in this family. This work taps into the genetics of epilepsy in an underrepresented African population and suggests that the phenotypes of homozygous PRRT2 variants may include milder epilepsy presentations without movement disorders.
2024-02-02Life (Basel, Switzerland)
Interventional Radiology Locoregional Therapies for Intrahepatic Cholangiocarcinoma.
Review
作者: Gregory Woodhead ; Sean Lee ; Lucas Struycken ; Daniel Goldberg ; Jack Hannallah ; Shamar Young
Surgical resection remains the cornerstone of curative treatment for intrahepatic cholangiocarcinoma (iCCA), but this option is only available to a small percentage of patients. For patients with unresectable iCCA, systemic therapy with gemcitabine and platinum-based agents represents the mainstay of treatment; however, the armamentarium has grown to include targeted molecular therapies (e.g., FGFR2 inhibitors), use of adjuvant therapy, liver transplantation in select cases, immunotherapy, and locoregional liver-directed therapies. Despite advances, iCCA remains a challenge due to the advanced stage of many patients at diagnosis. Furthermore, given the improving options for systemic therapy and the fact that the majority of iCCA patients succumb to disease progression in the liver, the role of locoregional therapies has increased. This review will focus on the expanding role of interventional radiology and liver-directed therapies in the treatment of iCCA.
分析
对领域进行一次全面的分析。
登录
或
立即开始免费试用!
智慧芽新药情报库是智慧芽专为生命科学人士构建的基于AI的创新药情报平台，助您全方位提升您的研发与决策效率。
立即开始数据试用!
智慧芽新药库数据也通过智慧芽数据服务平台，以API或者数据包形式对外开放，助您更加充分利用智慧芽新药情报信息。
生物序列数据库
生物药研发创新
免费使用
化学结构数据库
小分子化药研发创新
免费使用