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Adult phenotypes of genetic developmental and epileptic encephalopathies.
Brain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFFamilial Steep Corneas in Posterior Polymorphous Corneal Dystrophy 3 Due to a Novel ZEB1 Gene Mutation.
Cornea
January 2025
Department of Ophthalmology, Edith Wolfson Medical Center, Holon, Israel.
Purpose: To present 4 family members with posterior polymorphous corneal dystrophy (PPCD), nonkeratoconic steep corneas, and myopia caused by a previously unknown genetic alteration in the ZEB1 gene.
Methods: Ophthalmic examinations and corneal curvature analyses were performed for all patients. Whole-exome targeted gene panel sequencing was performed for 1 patient.
This paper breaks away from traditional approaches that merely emulate digital neural networks. Using Mach-Zehnder interferometer (MZI) networks as a case study, we explore the impact of the inherent properties of analog computation on performance and identify the characteristics that optical neural networks (ONNs) components should possess to better adapt to these specific properties. Specifically, we examine the influence of analog computation on bias power and activation functions, as well as the impact of optical pruning on ONN's performance.
View Article and Find Full Text PDFThe monolithic fabrication of passive, nonlinear, and active functionalities on a single chip is highly desired in the wake of the development and commercialization of integrated photonic platforms. However, the co-integration of diverse functionalities has been challenging as each platform is optimized for specific applications, typically requiring different structures and fabrication flows. In this article, we report on a monolithic and complementary metal-oxide-semiconductor CMOS-compatible hybrid wafer-scale photonics platform that is suitable for linear, nonlinear, and active photonics based on moderate confinement 0.
View Article and Find Full Text PDFOptical transceivers serve as the backbone of high-speed data transmission over optical fiber in communication systems and there is a constant challenge to keep cost and power consumption low while increasing data capacities. However, dispersion impairments introduced by the transmission of data over optical fiber, limit the baud rates and fiber reach. In this paper, we demonstrate a low loss, transmission-based grating device to compensate for dispersion up to 20 km by the concatenation of gratings where the operation occurs outside of the stopband in the region where transmissivity is high, and the normal dispersion magnitude is large.
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