Results 71 to 80 of about 108,120,995 (240)

Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up

Epileptic Disorders, EarlyView.
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger, Lotte Noorlag, Willem M. Otte, Maeike Zijlmans, Rosalie L. Neijzen, Sandra M. A. van der Salm, Floor E. Jansen, Kees P. J. Braun, Eric van Diessen   +8 more
wiley   +1 more source

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1

Molecular Genetics & Genomic Medicine, 2020
Background RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum ...
Leora Witkowski, Mitchell W. Dillon, Elissa Murphy, Matthew SLebo, Heather Mason‐Suares   +4 more
doaj   +1 more source

Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]

Somatic Cell and Molecular Genetics, 1993
The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs). Using antibodies directed against the NF1 gene product, a protein of approximately 250 kDa was identified and termed neurofibromin.
Gregory, Paula E., Gutmann, David H., Mitchell, Anna L., Park, Soochul, Boguski, Mark, Jacks, Tyler, Wood, Deborah L., Jove, Richard, Collins, Francis S.   +8 more
openaire   +3 more sources

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

Neurofibromatosis segmentaria, a propósito de un caso

, 2022
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David, Sáenz Corral, Claudia Ileana, Ruiz Gómez, Daniela, Vega Memija, María Elisa, Armendariz Barragán, Yonatan, Toussaint Caire, Sonia   +5 more
core   +1 more source

Biallelic Mismatch Repair Deficiency in an Adolescent Female

Case Reports in Genetics, 2018
Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life.
Amber Hildreth, Mark A. Valasek, Irene Thung, Thomas Savides, Mamata Sivagnanam, Sonia Ramamoorthy, Sherry Huang   +6 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

Becker′s nevus with neurofibromatosis type 1

, 2015
Neurofibromatosis type 1 is an autosomal dominant disorder which primarily affects the growth and development of neural cell tissues. It presents as multiple tumor-like growths over the skin that arises from the nerves and is associated with other ...
Bhushan Madke, Nitin Gangane, Nidhi Yadav, Sumit Kar, Krishnan Preetha   +4 more
core   +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