Results 71 to 80 of about 425,884 (260)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Learning with Online Teaching Video Cases: Investigating Pre-Service Preschool Teachers’ Perceived Usefulness and Needs

Education Sciences
Extensive empirical research has emphasized the benefits of integrating Online Teaching Video Cases (OTVCs) into pre-service preschool teacher education.
Rongrong Xu, Alfredo Bautista, Weipeng Yang   +2 more
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Quality of Early Childhood Education and Care in Kazakhstan: The First Nationwide Study

Вопросы образования
Currently, Kazakhstan has the highest enrolment rate in the history of early childhood education and care (ECEC), with 98% enrolment for children aged three to six years old. With this significant expansion of ECEC, there is a lack of sufficient evidence
Gaukhar Kiikova, Altynay Bektemirova, Aizhan Ramazanova, Zhazira Issina, Sogdiana Chukurova   +4 more
doaj   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

The promotive and protective effects of parents’ perceived changes during the COVID-19 pandemic on emotional well-being among U.S. households with young children: an investigation of family resilience processes

Frontiers in Psychology
IntroductionThe COVID-19 pandemic may constitute a traumatic event for families with young children due to its acute onset, the unpredictable and ubiquitous nature, and the highly distressing disruptions it caused in family lives.
Sihong Liu, Stephanie M. Curenton, Jacqueline Sims, Philip A. Fisher   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Importance Attributed to Music Education by Hong Kong Parents and Prediction of Children’s Music Participation

Education Sciences
Parents play a crucial role in facilitating their children’s participation in extracurricular music activities. Guided by the framework of concerted cultivation, this survey study conducted with Hong Kong parents investigates (1) the types of ...
Yingying Pan, Alfredo Bautista, Siu-hang Kong   +2 more
doaj   +1 more source

[Early childhood development in Peru].

Revista peruana de medicina experimental y salud publica, 2015
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openaire   +2 more sources

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