Results 61 to 70 of about 169 (166)

An n‐of‐1 gene‐directed drug repurposing trial for an ultrarare genetic condition

Epilepsia, EarlyView.
Abstract Objective Gain‐of‐function (GoF) variants in the KCNC1 potassium channel subunit gene (Kv3.1) cause motor/cognitive delays and hypotonia and have been associated with seizures. Fluoxetine has inhibitory effects on Kv3.1. However, open‐label nonrandomized administration is insufficient to guide clinical decision‐making in ultrarare conditions ...
Vedika Jha, Christina Tsetsos, Mark Bedford, Gregory Costain, Sunita Vohra, Juan Pablo Diaz Martinez, Elise Heon, Jacob Vorstman, Carolina Gorodetsky, Ajoy Vincent, Jesiqua Rapley, Lori Anderson, Evdokia Anagnostou, Danielle A. Baribeau   +13 more
wiley   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

Epilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis, Emilia Ricci, Maria Paola Canevini, Lieven Lagae, Kentaro Tokumoto, Yushi Inoue, Tim Buckinx, Allison Watson, Kenneth A. Myers   +8 more
wiley   +1 more source

Cognitive and behavioral clinical outcome assessments in children with developmental and epileptic encephalopathies: Issues and instruments

Epilepsia, EarlyView.
Abstract Children with developmental and epileptic encephalopathies (DEEs) face cognitive and behavioral challenges that may have a greater impact than seizures on their quality of life (QoL). The need to assess these nonseizure outcomes for evaluating treatments is increasingly recognized.
Cinzia Correale, Nicola Specchio, Jenny Downs, J. Helen Cross, Simona Cappelletti, Andrea Palacio‐Navarro, Sam Geuens, Kette Valente, Andreas Brunklaus, Colin Reilly   +9 more
wiley   +1 more source

Add‐on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss‐of‐function γ‐aminobutyric acid type A receptor variants

Epilepsia, EarlyView.
Abstract Objective The semisynthetic compound vinpocetine has gained attention as a potential precision medicine for developmental and epileptic encephalopathies caused by loss‐of‐function (LoF) variants in γ‐aminobutyric acid type A (GABAA) receptor genes. As a positive allosteric modulator of GABAA receptors, case reports suggest that vinpocetine can
Cathrine E. Gjerulfsen, Vivian W. Y. Liao, Tomasz S. Mieszczanek, Anne V. Jakobsen, Elena Gardella, Kern Olofsson, Marina Nikanorova, Allan Bayat, Sebastian Ortiz, Sarah Weckhuysen, Cecilie Johannessen Landmark, Orrin Devinsky, Mary Chebib, Philip K. Ahring, Guido Rubboli, Rikke S. Møller   +15 more
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

An SSI‐Informed Design for Tuned Mass Dampers With Small‐to‐Large Mass Ratios

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT Tuned Mass Dampers (TMDs) are used to mitigate structural vibrations induced by seismic or wind excitation, by tuning the device to the system's dominant resonant frequencies. However, the TMD effectiveness can be undermined by soil‐structure interaction, which can lead to elongation of the vibration periods and to combined translational ...
Davide Noè Gorini, Pasquale Roberto Marrazzo, Elide Nastri, Rosario Montuori   +3 more
wiley   +1 more source

Weak‐Story Mitigation and Drift Redistribution in Moment‐Resisting Frames Using Stepping Rocking Walls

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT This study investigates the seismic response of moment‐resisting frames retrofitted with a stepping rocking wall, with emphasis on weak‐story mitigation and residual drift reduction under both ordinary and pulse‐like ground motions. Nonlinear response‐history analyses are conducted on 9‐story and 20‐story SAC Los Angeles frames.
Mehrdad Aghagholizadeh
wiley   +1 more source

Impact of COVID‐19 Lockdown on Psychopathology at the Onset of Eating Disorders

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Previous research has shown that the COVID‐19 pandemic worsened eating‐disorder (ED) symptoms, but most studies have focused on inpatients and compared only two periods: pre‐COVID and the period following the pandemic's onset. Outpatient populations, particularly those with binge eating disorder (BED) and other specified feeding or ...
Elvira Anna Carbone, Cristiano Dani, Matteo Geraci, Alessia Romeo, Ana Jiménez‐Peinado, Marianna Rania, Enrico Lodovici, Valentina Zofia Cordasco, Emanuele Cassioli, Eleonora Rossi, Livio Tarchi, Valdo Ricca, Giovanni Castellini, Cristina Segura‐Garcia   +13 more
wiley   +1 more source

Unsteady Flow Behavior and Radial Force Analysis of a Side Channel Pump Under Different Blade Tip Cutting Angles Using Computational Fluid Dynamics

Energy Science &Engineering, EarlyView.
The Radial Force (RF) distribution under different cutting angles is presented in Figure 1. Generally, the distribution of RF displays divergence across different flow conditions. The pattern of force distribution reveals a total of 24 peaks, which corresponds to the number of blades of the impeller of the SCP.
Kofi Asamoah Adu‐Poku, Desmond Appiah, Fan Zhang, Chen Ke   +3 more
wiley   +1 more source

Impulse Control Disorder Behaviors in Dystonia

Movement Disorders, 2022
Annu Huovinen, Elina Jaakkola, Juho Joutsa   +2 more
openaire   +3 more sources