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Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy.
Epilepsia
January 2025
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.
View Article and Find Full Text PDFBackground And Aims: Neonatal sepsis is a major cause of neonatal mortality worldwide. It remains a detrimental bottleneck to the WHO goal of eradicating preventable deaths for children below 5 years of age by 2030. Though the risk factors for adverse clinical outcomes for neonatal sepsis have been widely studied there is no universal consensus.
View Article and Find Full Text PDFRoadmap to advance therapeutics for -related disorder: a patient organization perspective from SynGAP Research Fund.
Ther Adv Rare Dis
January 2025
SynGAP Research Fund, 2856 Curie Pl., San Diego, CA 92122, USA.
-related disorder (SRD) is a developmental and epileptic encephalopathy caused by a disruption of the gene. At the beginning of 2024, it is one of many rare monogenic brain disorders without disease-modifying treatments, but that is changing. This article chronicles the last 5 years, beginning when treatments for SRD were not publicly in development, to the start of 2024 when many SRD-specific treatments are advancing.
View Article and Find Full Text PDFIctal EEG of benign convulsion with mild gastroenteritis with in infants and children.
Brain Dev
January 2025
Department of Clinical Neuroelectrophysiology, Wuhan Children's Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:
Objective: There are fewer reports on the ictal electroencephalogram(EEG) of convulsions in infants and children with mild gastroenteritis (BCWG). Our study retrospectively analyzed the ictal EEG characteristics of convulsive episodes of BCWG.
Methods: The seizure-phase EEGs of children diagnosed with BCWG from September 2016 to January 2022 were searched and analyzed, and a total of thirteen seizure-phase EEGs of eight cases were analyzed retrospectively.
Administration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity.
Calcif Tissue Int
January 2025
Department of Pharmacology, Tokyo Dental College, 2-9-18, Kandamisaki-cho, Chiyoda-ku, Tokyo, 101-0061, Japan.
Hypophosphatasia (HPP) is a congenital bone disease caused by tissue-nonspecific mutations in the alkaline phosphatase gene. It is classified into six types: severe perinatal, benign prenatal, infantile, pediatric, adult, and odonto. HPP with femoral hypoplasia on fetal ultrasonography, seizures, or early loss of primary teeth can be easily diagnosed.
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