Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations
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 +8 more
wiley +1 more source
First European detection and genomic analysis of <i>Francisella tularensis</i> subsp. <i>tularensis</i> in a traveler returning from Canada. [PDF]
Rutschmann O +8 more
europepmc +1 more source
Abstract Objectives ES‐481 is a novel potent and selective antagonist of TARP‐y8‐dependent AMPA receptors. We aimed to assess the potential efficacy, safety and tolerability, and pharmacokinetics of different doses of ES‐481 as an add‐on anti‐seizure medication (ASM) in adults with drug‐resistant epilepsy (DRE). Methods This was a Phase 2A double‐blind,
Emma C. Foster +16 more
wiley +1 more source
<i>Sarcocystis pinnipedi</i> predominates <i>Sarcocystis</i> spp. infections in free-ranging Alaskan marine mammals. [PDF]
Chiu ES +5 more
europepmc +1 more source
Abstract Objective Focal cortical dysplasia type 1 (FCD1) is a rare and heterogeneous cause of drug‐resistant epilepsy (DRE) in children. Its clinical characteristics remain poorly understood, and surgical outcomes may be less favorable than in FCD2. We conducted a population‐based study to characterize the clinical presentation and long‐term seizure ...
Vincent Zheng +9 more
wiley +1 more source
Region- and season-specific exposure to lead in a common North American songbird. [PDF]
Ohrberg ML +7 more
europepmc +1 more source
The 2025 Kamchatka Earthquake and Tsunami: Cascading Impacts and Risks to Japan
ABSTRACT On July 29th, 2025, a large earthquake (Mw 8.8) occurred near the Kamchatka Peninsula. This event caused a tsunami that reached Japan's Pacific coast, even though the source was far away. In this study, we analyze the characteristics of earthquakes and tsunamis and discuss how they relate to the recurrence possibility and risk in Japan.
Ampan Laosunthara +6 more
wiley +1 more source
Prevalence and Clinical Characteristics of Systemic Sclerosis in Alaska Native and American Indian Peoples in Alaska. [PDF]
Mehta VR +5 more
europepmc +1 more source
ABSTRACT Nonstructural components (NSCs) installed in large‐span reticular structures were frequently severely damaged during earthquakes, even when the primary structure remained intact. Existing seismic design specifications for NSCs were predominantly developed for upright structures such as multi‐storey buildings and offer no guidance for reticular
Xudong Zhi +6 more
wiley +1 more source
Fragment-Based Online OzESI-MS, NMR, and Computational DP4+/DFT Approaches to the Characterization of the Putative Biosynthetic Lipid Precursor of Atkamine from Alaskan <i>Latrunculia</i> Sponges. [PDF]
Benjamin MM +11 more
europepmc +1 more source

