Background/objective: Childhood epilepsy is one of the disease groups with the highest disease burden in society. This study aimed to guide researchers for new studies by determining the most compelling studies and current issues through a bibliometric analysis of scientific outputs about childhood epilepsy between 1980 and 2018.
Methods: The literature review was conducted using the Web of Science (WoS) database. Epilepsy and status epilepticus were used as search keywords in WoS, and the search was performed only in the title section of the publications. Only publications in the research field of pediatrics were included in the study and were analyzed bibliometrically. Linear regression analysis was used to estimate the number of publications in the coming years.
Results: It was seen that the number of articles on pediatric epilepsy has been increasing with a linear trend. A total of 3424 publications were found. Of these publications, 2197 (64.2%) articles were analyzed bibliometrically. The top two most productive countries were the USA(654) and Italy (199). The first two most active institutions were The Hospital for Sick Children (40, 1.8%) and Tel Aviv University (38, 1.7%). The top three journals that published the most were Journal of Child Neurology (422, 19.2%), Pediatric Neurology (335, 15.2%), and Developmental Medicine and Child Neurology (201, 9.1%).
Conclusion: In this bibliometric study on childhood epilepsies, a data summary of 2197 articles published between 1980 and 2018 is presented. We hope that this article will be a useful literature review and guide researchers working on pediatric epilepsy.
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http://dx.doi.org/10.1007/s00381-020-04897-9 | DOI Listing |
Ann Clin Transl Neurol
January 2025
Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
View Article and Find Full Text PDFPediatr Neurol
December 2024
Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, Texas.
Background: Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with clinical variability. As the needs of children with TSC may differ, parenting demands may similarly differ. Characterizing parenting stress, or emotional maladaptation from parenting duties, can enable health care providers to assist parents of children with TSC.
View Article and Find Full Text PDFPurpose Of Review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.
Recent Findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants.
Front Cell Neurosci
January 2025
IDDRC, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California - Los Angeles, Los Angeles, CA, United States.
Once believed to be the culprits of epileptogenic activity, the functional properties of balloon/giant cells (BC/GC), commonly found in some malformations of cortical development including focal cortical dysplasia type IIb (FCDIIb) and tuberous sclerosis complex (TSC), are beginning to be unraveled. These abnormal cells emerge during early brain development as a result of a hyperactive mTOR pathway and may express both neuronal and glial markers. A paradigm shift occurred when our group demonstrated that BC/GC in pediatric cases of FCDIIb and TSC are unable to generate action potentials and lack synaptic inputs.
View Article and Find Full Text PDFEpilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
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