Results 111 to 120 of about 104,773 (248)

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

An Update on Pemphigus Vulgaris in Pregnancy and Neonates: Management Options and Our Clinical-Laboratory Experience. [PDF]

Medicina (Kaunas)
Markwitz M, Welc N, Bowszyc-Dmochowska M, Jałowska M, Dmochowski M.   +4 more
europepmc   +1 more source

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta‐analysis

Epilepsia Open, EarlyView.
Abstract Objectives Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy of infantile onset. While epidemiological data from Western countries and global estimates are available, consolidated evidence on the burden of IESS in India remains limited.
Akanksha Singh, Parth Lal, Mohammed Safeer V.S., Atishay Jain, Priyanka Madaan, Jitendra Kumar Sahu, Dipika Bansal   +6 more
wiley   +1 more source

Incidence and clinical predictors of epilepsy after febrile seizures in children: A prospective cohort study in Vietnam

Epilepsia Open, EarlyView.
Abstract Objective Febrile seizures (FS) are common and usually self‐limited, yet a subset of children develop epilepsy. Early risk stratification remains challenging, particularly in resource‐limited settings with limited access to long‐term neurologic follow‐up.
Anh H. Bui, Van K. T. Le, Hong K. Tang
wiley   +1 more source

Identification of a novel ACADSB variant for the presymptomatic diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency through newborn screening in Iran. [PDF]

Orphanet J Rare Dis
Nasri M, Mahdieh N, Abbasi F, Mohsenipour R, Abdolahpour S.   +4 more
europepmc   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Elevated Blood Pressure in Newborns From Hypertensive Disorders of Pregnancy During the Immediate Postnatal Period. [PDF]

J Clin Hypertens (Greenwich)
Freel CI, Bavari AE, Mauch TJ, Hanson CK, Mishra PK, Anderson-Berry AL.   +5 more
europepmc   +1 more source

Perinatal Gut Dysbiosis Reduces Milk Oligosaccharides via LPS‐Mediated Gut–Mammary Signaling in Mice

Food Frontiers, EarlyView.
Maternal gut dysbiosis elevates Gram‐negative bacterial lipopolysaccharide (LPS), which enters circulation and accumulates in mammary tissue. This compromises the blood–milk barrier and suppresses key enzymatic genes, ultimately reducing milk oligosaccharide synthesis and potentially affecting neonatal gut microbiota through breastfeeding.
Man‐Lin Zhou, Ye Wang, Yan‐Ling Kang, Bushra Walayat, Bin‐Qi Rui, Qi‐Di Xue, Xi He, Jing‐Yu Yan, Yin‐Hui Liu, Ming Li   +9 more
wiley   +1 more source

BCGitis and BCGosis: Clinical Spectrum, Immunological Mechanisms, and Risk Management. [PDF]

Vaccines (Basel)
Liu Q, Dai X, Wei S.
europepmc   +1 more source

Micro and Nanoencapsulation of Omega‐3 Fatty Acids: Functional Applications and Future Perspectives in Food Systems

Food Safety and Health, EarlyView.
Whey protein‐based microencapsulation for omega‐3 PUFA delivery in food systems. Objective: Enhance oxidative stability & bioavailability of omega‐3 PUFAs using whey protein as an encapsulating agent. Current methods: Spray drying & coacervation—effective but limited by heat sensitivity and encapsulation efficiency. Emerging technologies: Electrospray &
Jihan M. Kassem, Fadwa W. Abdulqahar, Ahmed A. Zaky, Mohamed Said Boulkrane, Aya Darwish, Amr Farouk, Beraat Ozçelik, Osama Magouz, Xueming Liu, Tamer M. El‐Messery   +9 more
wiley   +1 more source