Results 141 to 150 of about 2,272,583 (371)

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson   +14 more
wiley   +1 more source

COVID‐19 and myasthenia gravis: A review of neurological implications of the SARS‐COV‐2

open access: yesBrain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Introduction This review highlights the potential mechanisms of neuromuscular manifestation of COVID‐19, especially myasthenia gravis (MG). Methods An extensive literature search was conducted by two independent investigators using PubMed/MEDLINE and Google Scholar from its inception to December 2020. Results Exacerbations of clinical symptoms
Syed Muhammad Ismail Shah   +10 more
wiley   +1 more source

Using Deep Learning and Machine Learning to Detect Epileptic Seizure with Electroencephalography (EEG) Data [PDF]

open access: yesarXiv, 2019
The prediction of epileptic seizure has always been extremely challenging in medical domain. However, as the development of computer technology, the application of machine learning introduced new ideas for seizure forecasting. Applying machine learning model onto the predication of epileptic seizure could help us obtain a better result and there have ...
arxiv  

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa   +3 more
wiley   +1 more source

Functional connectivity in behavioral variant frontotemporal dementia

open access: yesBrain and Behavior, Volume 12, Issue 12, December 2022., 2022
Decreased FC in the Salience Network (SN) is the most consistent finding in bvFTD. The brain's functional architecture is less interconnected and efficient in bvFTD. Symptom, behavior, cognition and disease severity are associated with changes in FC. Abstract Introduction Functional connectivity (FC)—which reflects relationships between neural activity
Luiz Kobuti Ferreira   +3 more
wiley   +1 more source

Clinical characteristics of children with infantile epileptic spasms syndrome from a tertiary-care hospital in Dhaka, Bangladesh

open access: yesHeliyon, 2023
Background: We describe patient characteristics and response to initial treatment in a large case series of children presenting with infantile epileptic spasms syndrome to a tertiary-care hospital with a pediatric neurology service in Bangladesh.
Christina Briscoe Abath   +11 more
doaj  

Clinical features and power spectral entropy of electroencephalography in Wilson's disease with dystonia

open access: yesBrain and Behavior, Volume 12, Issue 12, December 2022., 2022
WD patients with dystonia were more susceptible to suffer from low BMI and highߚlevel neurological dysfunctions. It was the first time to apply the PSE of EEG to detect the cortical synaptic activity in WD patients. The cortical activities of the WD patients with dystonia seemed to be more chaotic during the eyes‐closed and reading tasks but lower ...
Shaoru Zhang   +9 more
wiley   +1 more source

A High-Performance List Decoding Algorithm for Surface Codes with Erroneous Syndrome [PDF]

open access: yesarXiv
Quantum error-correcting codes (QECCs) are necessary for fault-tolerant quantum computation. Surface codes are a class of topological QECCs that have attracted significant attention due to their exceptional error-correcting capabilities and easy implementation.
arxiv  

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