Results 181 to 190 of about 26,425 (290)

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Exploring potential pathogenesis mechanisms of onchocerciasis-associated epilepsy through cerebrospinal fluid analysis of children with complex febrile seizures: a pilot study in Aketi, Democratic Republic of the Congo. [PDF]

BMJ Open
Kungu Gbulu R, De Wilde B, Lubbers C, Falay DS, Siewe Fodjo JN, Colebunders R.   +5 more
europepmc   +1 more source

Elranatamab in Relapsed/Refractory Multiple Myeloma: Mechanisms, Clinical Evidence, and Emerging Perspectives

European Journal of Haematology, Volume 117, Issue 1, Page 42-54, July 2026.
ABSTRACT Relapsed and refractory multiple myeloma (RRMM) remains associated with poor outcomes, particularly in patients exposed or refractory to proteasome inhibitors, immunomodulatory agents, and anti‐CD38 monoclonal antibodies. Targeting B‐cell maturation antigen (BCMA) has emerged as an effective therapeutic strategy, prompting the development of ...
Maria Eugenia Alvaro, Enrica Antonia Martino, Santino Caserta, Mamdouh Skafi, Antonella Bruzzese, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Ernesto Vigna, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability. [PDF]

Epilepsia Open
Dell'Isola GB, Muda A, Giordano L, Guerrini R, Boncristiano A, Pietrafusa N, Polselli M, Bisulli F, Ragona F, Riva A, Striano P, Battaglia DI, Vigevano F.   +12 more
europepmc   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple, Sotiria Gizani, Mariano Sanz, Dominique Declerck, Phoebus Madianos, Valerie Clerehugh, Monique Danser, Esti Davidovich, Janet Davies, Nikos Donos, Elisabeth Dursun, Elena Figuero, Filippo Graziani, Mervi Gursoy, Soren Jepsen, Clara Joseph, Moritz Kebschull, Norbert Kraemer, Tina Lambrinaki, Rodrigo López, David J. Manton, Joerg Meyle, Ana Molina, Lior Shapira, Cheryl Somani, Georgios Tsilingaridis, Svante Twetman, Nicola West, Biniyam Wondimu, Ferranti Wong, David Herrera   +30 more
wiley   +1 more source

Pioneering ultrastructural texture analysis of dendrites in the cerebellar dentate nucleus: an experimental rat model of hyperthermia-induced seizures. [PDF]

Sci Rep
Łotowska JM, Borowska M, Żochowska-Sobaniec M, Sobaniec-Łotowska ME, Sobaniec P.   +4 more
europepmc   +1 more source

‘You can't have an ego in this game’: A simulation primed qualitative inquiry of team reflection in paediatrics

Medical Education, Volume 60, Issue 7, Page 782-791, July 2026.
Abstract Introduction Acute care paediatric teams face ambiguous, dynamic patient care situations that demand adaptability to avoid patient harm. Team huddles and adaptation processes have shown promise in mitigating risk and reducing harm. One team process that may occur in huddles is team reflection (TR), defined as a team's capacity to consciously ...
Rustin Meister, Mary E. McBride, Jan B. Schmutz, Mark Adler, Walter Eppich   +4 more
wiley   +1 more source

A <i>SCN1A</i> missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree. [PDF]

Front Genet
Li XL.
europepmc   +1 more source

Decoding Undesirable Inflammatory Responses of Nucleic Acid‐Delivering Lipid Nanoparticles

Advanced Science, Volume 13, Issue 33, 15 June 2026.
Lipid nanoparticles (LNPs) enable efficient nucleic acid delivery, but their immunogenicity is a double‐edged sword. This review explores LNP‐driven innate and adaptive immunity, covering lipid components, endosomal escape, and nucleic acid sensing.
Ruimin Hu, Yin Dou, Chenwen Li, Yuying Mu, Huiying Ouyang, Wenhao Shen, Jianxiang Zhang   +6 more
wiley   +1 more source

Association between atopic dermatitis and febrile seizure in young children. [PDF]

BMC Pediatr
Ha E, Kim JH, Lee E, Lee WS, Lee GC, Kim H, Han B, Shin J, Rhie S, Han MY.   +9 more
europepmc   +1 more source