Results 211 to 220 of about 50,774 (290)

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases. [PDF]

Ital J Pediatr
Cuzzola E, Massara S, Sforza G, Voci A, Proietti Checchi M, Mazzone L, Valeriani M, Moavero R.   +7 more
europepmc   +1 more source

Osteoarthritis: Epidemiology, Pathogenesis, and Treatment

MedComm, Volume 7, Issue 4, April 2026.
Osteoarthritis is a prevalent degenerative joint disease with a growing global burden. Its development involves complex interactions among epidemiological factors, pathological changes, molecular signaling, and epigenetic regulation. Understanding these mechanisms provides insights into disease progression and supports the development of therapeutic ...
Tianrui Chen, Wenlong Chen, Tianpeng Xu, Hong Wang, Yuheng Zhang, Li Wang, Sijie Zhu, Huaqiang Tao, Xing Yang   +8 more
wiley   +1 more source

Gut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study. [PDF]

Front Neurosci
Ottaviano E, Marsiglia MD, Ceccarani C, Ancona S, Triva F, La Briola F, Bergamoni S, Teutonico F, Pompili A, Viganò I, Ricci E, Vignoli A, Borghi E.   +12 more
europepmc   +1 more source

Epilepsy: Molecular Pathogenesis and Emerging Therapies

MedComm, Volume 7, Issue 4, April 2026.
Progress has been made in the molecular pathogenesis of epilepsy, revealing multiple therapeutic targets. Recent advances in pharmacology, materials science, and surgical technique, coupled with progress in targeted therapy and disruptive epilepsy network technology, have led to the emergence of innovative strategies for epilepsy treatment.
Wanbin Huang, Jiabin Zong, Yu Zhang, Ming Li, Songqing Pan, Zheman Xiao   +5 more
wiley   +1 more source

Renal Function Outcomes in Tuberous Sclerosis Complex Patients Receiving Everolimus for Renal Angiomyolipoma. [PDF]

Eur Urol Open Sci
Liao Z, Wang W, Zhao Y, Liu Y, Qiu D, Zhang Y.   +5 more
europepmc   +1 more source

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

Onychopapilloma and Ungual Fibroma Revealing Late-Diagnosed Tuberous Sclerosis [PDF]

Balkan Med J
Burç Dağtaş B, Leblebici C.
europepmc   +1 more source

Exposure to anesthesia during delivery and risk of autism spectrum disorder: A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 4, Page 587-595, April 2026.
Cesarean delivery with general anesthesia was associated with a modestly increased risk of autism in offspring compared to vaginal delivery while cesarean delivery with neuraxial anesthesia was not. Similar findings were seen across different surgery types and ethnic groups, suggesting that general anesthesia may be relevant to autism risk.
Aviv Ben Kish, Yair Binyamin, Analya Michaelovski, Gal Meiri, Idan Menashe   +4 more
wiley   +1 more source