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Genotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model.
Gene
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China. Electronic address:
Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear. The zebrafish model can be used to assess the functions of human ADGRV1 and its variant alleles during embryonic development. In this study, we summarized the phenotypic and genotypic characteristics of four children with ADGRV1 variation and based on this, we validated the ADGRV1 loss phenotype in an adgrv1-knockout zebrafish model.
View Article and Find Full Text PDFIntrathecal pemetrexed in NSCLC patients with leptomeningeal metastasis.
Ecancermedicalscience
October 2024
Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai 400012, India.
Spread of lung cancer to the leptomeninges is rare and difficult to treat. Standard therapy comprises CNS-penetrant targeted agents with or without intrathecal chemotherapy. We performed a retrospective analysis of 16 patients with advanced NSCLC and leptomeningeal disease treated with intrathecal pemetrexed 50 mg.
View Article and Find Full Text PDFTwenty-four-hour pattern of children with febrile seizures presenting to a United States Pediatric Emergency Department.
Epilepsy Res
January 2025
UMC Children's Hospital, Department of Emergency Medicine, Kirk Kerkorian School of Medicine at University of Las Vegas, Las Vegas, NV, USA.
Background: Febrile seizure (FS) is the most common convulsive disorder in children. Understanding its time-of-day pattern can provide insight into mechanisms and prevention.
Purpose: We explored clock-time variation of FS presentations of children to a US pediatric emergency department (PED) in comparison to two control cohorts: one (n = 5719) like-aged children presenting solely with fever, i.
Temporal lobe epilepsy with isolated amygdala enlargement: anatomo-electro-clinical features and long-term outcome.
J Neurol
January 2025
Epilepsy Unit - Sleep Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Background: Temporal lobe epilepsy with isolated amygdala enlargement (TLE-AE) still lacks a definite characterization and controversies exist.
Methods: We conducted a retrospective study identifying brain MRI scans with isolated AE between 2015 and 2021. We collected clinical and paraclinical data of patients with TLE-AE and evaluated the outcome.
The role of serum zinc and selenium levels in etiology of febrile seizures.
Clin Exp Pediatr
January 2025
Department of Pediatrics, Division of Child Neurology, Fırat University Faculty of Medicine, Elazıg, Turkey.
Background: Febrile seizures (FSs) are the most common form of childhood seizures. Determining the role of trace elements in the pathophysiology of FSs will contribute to the management of FSs by pediatricians.
Purpose: This study aimed to investigate the effects of zinc and selenium on the nervous system and how they may influence the risk of FSs.
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