Results 101 to 110 of about 79,064 (227)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology
Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood.
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van derWesthuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
doaj   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Predicting Oral Cancer From Precursor Lesions: The Case for a Standardized Framework of Analysis to Improve Prediction Modeling

Head &Neck, EarlyView.
ABSTRACT Oral Cancer often occurs from the transformation of precursor lesions, and this offers an opportunity for early detection. Current methods to assess risk of precursor lesion progression to oral cancer incompletely predict risk. A multimodal framework that leverages machine learning is needed to improve prediction.
Michael E. Troka, James C. Gates
wiley   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source