Results 71 to 80 of about 29,473,219 (216)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Febrile status epilepticus and epileptogenesis: The FEBSTAT study

Epilepsia Open, EarlyView.
Abstract The multicenter FEBSTAT study (Consequences of Prolonged Febrile Seizures in Childhood: https://grantome.com/grant/NIH/R37‐NS043209‐12; PI S. Shinnar) examined the outcome of febrile status epilepticus (FSE) in over 200 prospectively enrolled infants, with many followed for 10 years after FSE.
Darrell V. Lewis, Douglas R. Nordli Jr., Douglas R. Nordli III, Shlomo Shinnar, Stephen Chan, Jacqueline A. Bello, L. Matthew Frank, James Voyvodic, William Gallentine, Syndi Seinfeld, Yoshimi Sogawa, Erica Weiss, David Masur, Yuan Xu, Solomon L. Moshé   +14 more
wiley   +1 more source

Multiple CNS Tumors in a Patient With Neurofibromatosis Type 2: Classical Presentation of a Rare Diseas

Acta Medica Iranica, 2020
Neurofibromatosis type 2 is a genetic autosomal dominant disorder, caused by spontaneous mutation in the gene located on chromosome 22 q11-13.1,which usually emerges in adolescence or early adulthood and is characterized by development of bilateral ...
Aamer Ubaid, Farishta Waheed, Awais Naeem   +2 more
doaj   +1 more source

Germline Cancer Predisposition and De Novo Contributions in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group

International Journal of Cancer, EarlyView.
ABSTRACT Approximately 6%–8% of children and adolescents with rhabdomyosarcoma (RMS) have an underlying cancer predisposition disorder (CPD), which varies between embryonal and alveolar subtypes and other clinical characteristics. Identifying a CPD remains challenging, as traditional approaches rely on clinical features and family history. Additionally,
Taylor M. Luckie, Sarah Scollon, Yao Yu, Aniko Sabo, Tiffany Chambers, Olga Taylor, Logan G. Spector, Michael E. Scheurer, Douglas S. Hawkins, Rajkumar Venkatramani, Chad D. Huff, Sharon E. Plon, Philip J. Lupo   +12 more
wiley   +1 more source

Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2

Frontiers in Oncology
BackgroundNeurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are autosomal dominant disorders that originate from Schwann cells and are characterized by the development of benign and malignant tumors, respectively.
Erxing Tao, Lin Zhou, Lin Zhou, Zhicheng Xu, Hui Ren, Junyu Yang, Yiming Chen, Qi Wang, Min Liu, Yanfei Zhang, Wei Liang, Siyi Xu, Chunlong Zhong, Zhigang Wang   +13 more
doaj   +1 more source

Familial Cancers Associated With Cancers of the Breast, Prostate, Colorectum, and Lung in Sweden

International Journal of Cancer, EarlyView.
ABSTRACT Available epidemiological evidence shows that many cancers share familial risks, and this is increasingly confirmed by data on shared pathogenic germline gene variants between cancers. We decided to harness the world's largest resource on familial cancer to assess discordant familial risks for female breast (BC), prostate (PC), colorectal (CRC)
Frantisek Zitricky, Kristina Sundquist, Jan Sundquist, Akseli Hemminki, Asta Försti, Kari Hemminki   +5 more
wiley   +1 more source

Human biomarker navigator

iMeta, EarlyView.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

, 2014
Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other ...
Ersen Karakılıç, Mehtap Navdar Başaran, Mazhar Müslüm Tuna, Berçem Ayçiçek Doğan, Büşranur Çavdarlı, Yasemin Tütüncü, Serdar Güler, Dilek Berker   +7 more
core   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Prominent myelin vacuolization in neurofibromatosis type 2

, 2003
Myelin vacuolization has previously been documented by MRI with histopathologic correlation in patients with neurofibromatosis type 1. This paper presents a patient with neurofibromatosis type 2 with MRI findings consistent with a prominent form of ...
Sener, RN, Dzelzite, S, Raits, U, Veinbergs, AA, Migals, A   +4 more
core   +1 more source