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SMARCB1-deficient malignant melanocytic uveal tumours: a new neural crest-derived tumour entity with SMARCB1-related germline predisposition.
J Pathol
January 2025
SIREDO Oncology Center (Care, Innovation and Research for Children and AYA with Cancer), Institut Curie, Université Paris Cité, Paris, France.
Rhabdoid tumours (RT) are an aggressive malignancy affecting <2-year-old infants, characterised by biallelic loss-of-function alterations in SWI/SNF-related BAF chromatin remodelling complex subunit B1 (SMARCB1) in nearly all cases. Germline SMARCB1 alterations are found in ~30% of patients and define the RT Predisposition Syndrome type 1 (RTPS1). Uveal melanoma (UVM), the most common primary intraocular cancer in adults, does not harbour SMARCB1 alterations.
View Article and Find Full Text PDFDeregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.
Hum Mol Genet
January 2025
Department of Human Genetics, Inselspital Bern, University of Bern, Freiburgstrasse 15, Bern 3010, Switzerland.
While de novo missense variants in the BTB domains of atypical RhoGTPase RHOBTB2 cause a severe developmental and epileptic encephalopathy, de novo missense variants in the GTPase domain or bi-allelic truncating variants are associated with more variable neurodevelopmental and seizure phenotypes. Apart from the observation of RHOBTB2 abundance resulting from BTB-domain variants and increased seizure susceptibility in Drosophila overexpressing RhoBTB, our knowledge on RHOBTB2-related pathomechanisms is limited. We now found enrichment for ion channels among the differentially expressed genes from RNA-Seq on fly heads overexpressing RhoBTB.
View Article and Find Full Text PDFAltered olfactory responses in Fmr1 KO mice.
Sci Rep
January 2025
The Department of Cellular and Integrative Physiology, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results.
View Article and Find Full Text PDFVestibular function in children with neurodevelopmental disorders: A neglected sense?
Clin Neurophysiol
January 2025
Ghent University, Department of Rehabilitation Sciences, Corneel Heymanslaan 10 9000 Ghent, Belgium; Ghent University Hospital, Department of Otorhinolaryngology, Corneel Heymanslaan 10 9000 Ghent, Belgium.
Objective: The study aimed to explore the vestibular function in children with neurodevelopmental disorders (NDDs).
Methods: Twenty-eight participants with a NDD (6 girls, 22 boys; 6-13 years; 9;3 ± 2;4 years) were enrolled in this pilot study. Sixteen participants had a single NDD (Autism Spectrum Disorder: n = 7, Developmental Coordination Disorder: n = 3; Attention Deficit/Hyperactivity Disorder: n = 6), the remaining 12 had comorbid NDDs.
Diagnostic clues in herpes encephalitis following radiation therapy.
J Neurol Sci
January 2025
The Gaffin Center for Neuro-Oncology, Sharett Institute of Oncology, Hadassah Medical Center, and Faculty of Medicine, The Hebrew University of Jerusalem, Israel. Electronic address:
Introduction: Herpes encephalitis is known to affect patients undergoing brain radiotherapy, but early diagnosis and treatment, the foremost determinants of disease outcome, remain challenging in this patient population. This can be due to attribution of symptoms to the brain tumor and radiation side effects, as well as patients' atypical clinical presentation. Here we sought to highlight pearls and pitfalls in the clinical course and diagnostic workup which may facilitate timely diagnosis and improve disease outcome.
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