Results 81 to 90 of about 4,441,952 (298)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Design and Construction Analysis of a River Cruise Boat using an Electric Motor Drive

Wave
Surabaya has many large rivers, so it has tourism potential if the management can utilize the river. Surabaya needs a ship that can accommodate river cruising activities to maximize the river's potential.
Aditya Djunaidi, Erifive Pranatal
doaj   +1 more source

Wave–Wave Interaction of Unstable Baroclinic Waves

Journal of the Atmospheric Sciences, 1987
Two slightly unstable baroclinic waves in the two-layer Phillips model are allowed to interact with each other as well as the mean flow. A theory for small dissipation rates is developed to examine the role of wave–wave interaction in the dynamics of vacillation and aperiodicity in unstable systems.
Pedlosky, Joseph, Polvani, Lorenzo M.
openaire   +3 more sources

A Bright Solitonic Matter-Wave Interferometer

, 2014
We present the first realisation of a solitonic atom interferometer. A Bose-Einstein condensate of $1\times10^4$ atoms of rubidium-85 is loaded into a horizontal optical waveguide.
Altin, Paul A., Bennetts, Shayne, Close, John D., Debs, John E., Everitt, Patrick J., Hardman, Kyle S., Kuhn, Carlos C. N., McDonald, Gordon D., Robins, Nicholas P.   +8 more
core   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Studi Numerik Karakteristik Hidrofoil NACA 63(4)021 sebagai Pengembangan Bilah Turbin Arus Laut Kecepatan Rendah

Wave, 2022
Perkembangan energi terbarukan mengalami peningkatan pesat seiring menipisnya cadangan bahan bakar fosil. Arus laut adalah sumber energi terbarukan yang memiliki potensi besar di Indonesia namun didominasi oleh kecepatan arus rendah. Vertical Axial Tidal
Ahmad Yasim, Nandiko, Widodo
doaj  

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

ANALISIS PENERAPAN UKURAN LANE METER PADA KAPAL RO-RO DI INDONESIA

Wave, 2022
Kapal Ro-Ro penyeberangan di Indonesia menjadikan ukuran GT sebagai patokan untuk menentukan kapasitas kendaraan yang dapat diangkut oleh kapal.
Eka Wahyu Ardhi, Triwilaswandio Wuruk Pribadi, Riza Alfian Arief Wardana   +2 more
doaj  

WAVE HEIGHT DISTRIBUTION OF WIND WAVES OVER LONG WAVES

Coastal Engineering Proceedings, 1976
Influence of long wave on the wave height distribution of wind waves was studied through the laboratory experiment. Experiments were conducted in a wind-wave tank where the wind waves were generated by a wind blower and the long waves were developed by an oscillating pendulum type wave generator. The wave height distribution of the wind waves over long
Shan-Hwei Ou, Frederick L. W. Tang
openaire   +2 more sources