American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Temporal Profile of Soluble TLR4 and its Association with Intracerebral Haemorrhage Expansion. [PDF]
Transl Stroke ResLucas-Parra M +14 more
europepmc +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Source-dependent variability in gut barrier disruption, bacterial translocation, and immune activation after ischemic stroke in Wistar rats. [PDF]
Animal Model Exp MedGranados-Martinez C +10 more
europepmc +1 more source
Accelerated Brain Atrophy in Epilepsy: A Prospective Population‐Based Study
Annals of Neurology, EarlyView.Objective Previous longitudinal neuroimaging studies suggest that epilepsy is a progressive disorder. To date, these findings have relied largely on populations from tertiary centers, resulting in ascertainment bias, as severely affected individuals are more likely to be rescanned.
Marian Galovic +6 more
wiley +1 more source
The Impact of Near-Infrared Spectroscopy in Early Detection of Cerebral Deterioration After Aneurysmal Subarachnoid Haemorrhage. [PDF]
J Clin MedBūce-Šatoba I +2 more
europepmc +1 more source
Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study
Annals of Neurology, EarlyView.Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari +8 more
wiley +1 more source
Bridging the Distance for Ischaemic Stroke Treatment in Regional Australia: A Retrospective Cohort Study. [PDF]
Aust J Rural HealthCaldwell S +5 more
europepmc +1 more source
T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy
Annals of Neurology, EarlyView.Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes +6 more
wiley +1 more source