Results 101 to 110 of about 1,325,675 (292)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

Epilepsia, EarlyView.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin, Alexis Arzimanoglou, Jacqueline French, Kelly G. Knupp, Lieven Lagae, Eugen Trinka, Dennis Dlugos, Emilio Perucca   +7 more
wiley   +1 more source

Clinical and laboratory features in newborn infants born to HIV-infected women

Journal of Virus Eradication, 2016
Nina Yancheva, Violeta Dimitrova, Velimir Simov, Ivaylo Elenkov, Ivaylo Aleksiev, Maria Nikolova, Tatiana Tcherveniakova   +6 more
doaj   +1 more source

Measurement invariance analysis of the Postpartum Specific Anxiety Scale - Research Short Form in mothers of premature and term infants

BMC Research Notes
Objective Mothers of premature infants are more likely to develop anxiety during the first postpartum year than mothers of term infants. However, commonly used measures of anxiety were developed for general adult populations and may produce spurious ...
Semra Worrall, Paul Christiansen, Asma Khalil, Sergio A. Silverio, Victoria Fallon   +4 more
doaj   +1 more source

Late-onset Sepsis in Extremely Premature Infants: 2000–2011

The Pediatric Infectious Disease Journal, 2017
R. Greenberg, Sarah Kandefer, Barbara T. Do, P. Smith, B. Stoll, E. Bell, W. Carlo, A. Laptook, P. Sánchez, S. Shankaran, K. V. van Meurs, M. Ball, E. Hale, N. Newman, Abhik Das, R. Higgins, C. Cotten   +16 more
semanticscholar   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

Epilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn, Georgia Ramantani, Dominique Flügel, Verena Gaus, Susanne Schubert‐Bast, Elisabeth Sellitto, Jennifer Bausch, Bettina Schmitz   +7 more
wiley   +1 more source

Factors associated with maternal stress while caring for premature infants at home

Healthcare in Low-resource Settings
The occurrence of stress in mothers with premature infants is known to have a negative impact on both mothers and their infants. To overcome the condition, nurses must understand its influential factors to provide effective assistance.
Rinik Eko Kapti, Yuni Sufyanti Arief, Nurona Azizah, Sholihatul Amaliya, Lilik Supriati, Ari Damayanti Wahyuningrum   +5 more
doaj   +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

Influence of Early Stage Nursing Intervention on the Intelligence Development of Premature Infants

Huli yanjiu, 2004
Objective: to explore the influence of early stage nursing intervention on the intelligence development of premature infants. Method: a total of 69 cases premature babies were divided into both test and control groups.
李晓兰
doaj  

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