Results 131 to 140 of about 248,879 (259)

Claustrum Involvement in New Onset Refractory Status Epilepticus: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The claustrum sign is a distinctive neuroimaging finding characterized by bilateral T2/FLAIR hyperintensity of the claustrum, one of the most interconnected regions of the human brain. It was first described in new‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES).
Margherita Burani, Lorenzo Muccioli, Giada Giovannini, Niccolò Orlandi, Francesca Bisulli, Stefano Meletti   +5 more
wiley   +1 more source

Dual developmental effects of ARX poly-alanine mutations on human cortical excitatory and inhibitory neurons. [PDF]

Cell Rep
Nieto-Estevez V, Varma P, Mirsadeghi S, Caballero J, Gamero-Alameda S, Hosseini A, Silvosa MJ, Thodeson DM, Goswami S, Lybrand ZR, Giugliano M, Navara C, Hsieh J.   +12 more
europepmc   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

PRDM13 is required for specification of PAX2 lineage inhibitory neurons in the developing cerebellum. [PDF]

Dev Biol
Ma ZZ, Hale MA, Mona B, Uruena A, Johnson JE.   +4 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Medial septum parvalbumin-expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome. [PDF]

Epilepsia
Zhu L, Demetriou Y, Barden J, Disla J, Zhao M, Mattis J.   +5 more
europepmc   +1 more source

Unsupervised Spiking Neural Network with Dynamic Learning of Inhibitory Neurons. [PDF]

Sensors (Basel), 2023
Yang G, Lee W, Seo Y, Lee C, Seok W, Park J, Sim D, Park C.   +7 more
europepmc   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki, Alireza Amindarolzarbi, Tsion Abdi, John Clarke, Michael Hughes, Ami A. Shah, Zsuzsanna H. McMahan   +6 more
wiley   +1 more source

Activational and Organizational Effects of Sex Hormones on Hippocampal Inhibitory Neurons. [PDF]

J Neurosci
Hernández-Vivanco A, de la Vega-Ruiz R, Montes-Mellado A, Azcoitia Í, Méndez P.   +4 more
europepmc   +1 more source

Clinical Validation of Artificial Intelligence (AI)‐based Cartilage Segmentation Predicting Knee Replacement

Arthritis Care &Research, Accepted Article.
Objective For cartilage morphology to serve as a scalable endpoint in clinical trials, analyses should be performed automatically without human interaction. To clinically validate artificial intelligence (AI)‐based analysis, we studied cartilage loss from MRI prior to knee replacement.
Felix Eckstein, David J. Hunter, C. Kent Kwoh, Wolfgang Wirth   +3 more
wiley   +1 more source