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Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.
Expert Opin Emerg Drugs
December 2024
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.
View Article and Find Full Text PDFExploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Int J Mol Sci
November 2024
Department of Pediatrics, University of Chieti-Pescara, Sant'Annunziata Hospital, 66100 Chieti, Italy.
Neurodevelopmental disorders (NDDs) are a group of conditions affecting brain development, with variable degrees of severity and heterogeneous clinical features. They include intellectual disability (ID), autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), often coexisting with epilepsy, extra-neurological comorbidities, and multisystemic involvement. In recent years, next-generation sequencing (NGS) technologies allowed the identification of several gene pathogenic variants etiologically related to these disorders in a large cohort of affected children.
View Article and Find Full Text PDFSystemic complications of Aicardi Goutières syndrome using real-world data.
Mol Genet Metab
October 2024
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
Article Synopsis
- Aicardi Goutières Syndrome (AGS) is a rare genetic disorder characterized by a range of systemic health issues and delayed diagnosis, prompting researchers to analyze longitudinal data from medical records to better understand its burden.* -
- The study included 167 individuals with genetically confirmed AGS, compiling information on demographics, age of onset, and neurological complications; the most frequent genetic mutations associated with AGS were identified.* -
- Results revealed that gastrointestinal issues were the earliest systemic complications, while neurological symptoms such as tone abnormalities and irritability were prevalent, usually manifesting in infancy.*
A case of multiples liver metastases from a grade 2 brain meningioma: a rare entity with comprehensive literature review.
Ann Med Surg (Lond)
September 2024
Department of Neurosurgery, UHC Habib Bourguiba.
Introduction And Importance: Meningiomas are primary benign extra-axial central nervous system neoplasms that originate in meningothelial cells. Extra-neurological metastases are quite rare and occur in 0.1% of cases.
View Article and Find Full Text PDFThe epilepsy phenotype of KCNK4-related neurodevelopmental disease.
Seizure
October 2024
Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.
Introduction: Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described worldwide and still little is known about epileptic phenotype in KCNK4-related disease.
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