Results 171 to 180 of about 2,764,830 (288)

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Strategies to reduce osmotic stress during cryopreservation of red blood cells when using trehalose. [PDF]

Sci Rep
Braun T, Oldenhof H, Kohrs IT, Blasczyk R, Figueiredo C, Wolkers WF.   +5 more
europepmc   +1 more source

World happiness report: Año 2013 [PDF]

, 2013
Sustainable Development Solutions Network
core  

EEG findings in SERAC1‐related MEGD(H)EL syndrome

Epileptic Disorders, EarlyView.
Apurva Patel, Dalila Lewis, Thomas Koch
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Impact of 25% albumin administration on intracranial pressure. [PDF]

Crit Care
Wiedermann CJ, Salvagno M, Vincent JL, Taccone FS.   +3 more
europepmc   +1 more source

World happiness report: Año 2015 [PDF]

, 2015
Sustainable Development Solutions Network
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

ClC-2 Contributes to Hypotonicity-Induced Adrenal Aldosterone Secretion. [PDF]

Acta Physiol (Oxf)
Volkert M, Dinh HA, Scholl UI, Stölting G.   +3 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source