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Clinical presentation and management challenges of sphingosine-1-phosphate lyase insufficiency syndrome associated with an SGPL1 variant: a case report.
BMC Pediatr
January 2025
Geriatric Mental Health Research Center, Department of Psychiatry, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Background: This case report describes a unique presentation of sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS) caused by a rare SGPL1 variant, highlighting the diagnostic and management challenges associated with this condition.
Case Presentation: A 2-year-old Iranian female presented with steroid-resistant nephrotic syndrome (NS), primary adrenal insufficiency (AI), growth delay, seizures, and hyperpigmentation. Laboratory evaluation revealed hypoalbuminemia, significant proteinuria, hyperkalemia, and elevated adrenocorticotropic hormone (ACTH) levels.
Regulation of Glutamate Transporter Type 1 by TSA and the Antiepileptic Mechanism of TSA.
Neurochem Res
January 2025
Huazhong University of Science and Technology, Tongji Medical College, Wuhan, Hubei, 430000, China.
Epilepsy (EP) is a neurological disorder characterized by abnormal, sudden neuronal discharges. Seizures increase extracellular glutamate levels, causing excitotoxic damage. Glutamate transporter type 1 (GLT-1) and its human homologue excitatory amino acid transporter-2 (EAAT2) clear 95% of extracellular glutamate.
View Article and Find Full Text PDFRapid response electroencephalography decreases time to seizure diagnosis in pediatric acute care patients.
Epilepsia Open
January 2025
Division of Pediatric Critical Care Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Objectives: Pediatric status epilepticus (SE) carries a high risk of morbidity and mortality and can result in neurologic injury. Establishing seizure activity on conventional EEG (cEEG) is essential but can delay treatment of seizures due to technician limitations. Rapid response EEG (rrEEG) device Ceribell and its Brain Stethoscope function can be used and interpreted rapidly by bedside providers with minimal training.
View Article and Find Full Text PDFSource Causal Connectivity Noninvasively Predicting Surgical Outcomes of Drug-Refractory Epilepsy.
CNS Neurosci Ther
January 2025
School of Information Science and Engineering, Lanzhou University, Lanzhou, China.
Aims: Drug-refractory epilepsy (DRE) refers to the failure of controlling seizures with adequate trials of two tolerated and appropriately chosen anti-seizure medications (ASMs). For patients with DRE, surgical intervention becomes the most effective and viable treatment, but its success rate is unsatisfactory at only approximately 50%. Predicting surgical outcomes in advance can provide additional guidance to clinicians.
View Article and Find Full Text PDFAcute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome.
J Neurodev Disord
January 2025
Graduate Neuroscience Program, University of California, Riverside, CA, USA.
Background: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits.
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