Epilepsy in infants and children is one of the most common and devastating neurological disorders. In the past, we had a limited understanding of the causes of epilepsy in pediatric patients, so we treated pediatric epilepsy according to seizure type. Now with new tools and tests, we are entering the age of precision medicine in pediatric epilepsy. In this review, we use the new etiological classification system proposed by the International League Against Epilepsy to review the advances in the diagnosis of pediatric epilepsy, describe new tools to identify seizure foci for epilepsy surgery, and define treatable epilepsy syndromes.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367658 | PMC |
http://dx.doi.org/10.12688/f1000research.16494.1 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.
Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.
View Article and Find Full Text PDFBMC Pediatr
January 2025
Department of Developmental and Behavioral Pediatrics, Children's Medical Center, The First Hospital of Jilin University, Changchun, China.
Background: Most previous studies have focused on the clinical efficacy after intervention of ESDM, particularly in core symptoms. However, only a few have paid attention to the effectiveness of ESDM on emotional dysregulation and behavior problems in children with ASD. This study aimed to explore the effect of the ESDM on addressing emotional dysregulation and behavior problems in children with ASD in China, as well as its correlation with core symptoms of ASD.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Pediatric Neurology, Okayama University Hospital and Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.
Introduction: Epileptic encephalopathy (EE) is a serious clinical issue that manifests as part of developmental and epileptic encephalopathy (DEE), particularly in childhood epilepsy. In EE, neurocognitive functions and behavior are impaired by intense epileptiform electroencephalogram (EEG) activity. Hypotheses of pathophysiological mechanisms behind EE are reviewed to contribute to an effective solution for EE.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro, Jongno-Gu, Seoul 03080, Republic of Korea. Electronic address:
Objective: The present study aimed to investigate the initial clinical features of infantile-onset genetic epilepsy and compare initial seizure variables and responses to sodium channel blockers between SCN1A and non-SCN1A group.
Methods: We selected 122 patients, comprising 58 patients with SCN1A mutations and 64 patients with mutations in other than SCN1A, from our institutional database.
Results: Patients identified in the SCN1A group tended to present with fever, prolonged seizure duration, and hemiclonic seizure semiology.
Pediatr Infect Dis J
December 2024
From the Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Introduction: Central nervous system (CNS) infections represent some of the most critical pediatric health challenges, characterized by high mortality rates and a notable risk of long-term complications. Despite their significance, standardized guidelines for endocrinological follow-up of CNS infection survivors are lacking, leading to reliance on the expertise of individual centers and clinicians.
Materials And Methods: Prospective monocentric observational study conducted at the Fondazione Policlinico Universitario Agostino Gemelli in Rome, Italy.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!