Results 201 to 210 of about 215,860 (303)

Whole-exome sequencing identifies a CD38 variant in a Chinese family with hodgkin's lymphoma. [PDF]

Ann Hematol
Chen X, Xie L, Wu W, Jiang M, Cui Y, Zou L.   +5 more
europepmc   +1 more source

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

Rapid recovery after intrathecal dexamethasone in FIRES

Epileptic Disorders, EarlyView.
João Filipe Nico, Ana Rita Fradique, Catarina Teixeira, Rita Moinho, Mariana Leitão Marques, Constança Santos, Joana Afonso Ribeiro, Filipe Palavra, Cristina Pereira   +8 more
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

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis. [PDF]

Liver Int
Morel P, Silva Rodriguez M, Benmouffek C, Goksen B, Chéry C, Haghnejad V, Bensenane M, Feillet F, Guéant JL, Namour F, Bronowicki JP, Oussalah A.   +11 more
europepmc   +1 more source

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
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

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity

Epilepsia Open, EarlyView.
The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav, Sophie E. Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A. Sandaradura, Ingrid E. Scheffer, Zornitza Stark, Katherine B. Howell   +17 more
wiley   +1 more source

GermVarX: A Robust Workflow for Joint Germline Variant Exploration in whole-exome sequencing cohorts. [PDF]

PLoS One
Nguyen TTP, Nguyen DD, Mai TV, Nguyen DK, Nguyen TD, Truong NTM, Ha HH, Tran TTH.   +7 more
europepmc   +1 more source

AKT, ATR, and Notch Inhibitors Radiosensitize a Preclinical Model of Adenoid Cystic Carcinoma

Head &Neck, EarlyView.
ABSTRACT Background Adenoid Cystic Carcinoma (ACC) is a rare and lethal type of head and neck cancer. Standard therapy involves surgery followed by radiation therapy. The majority of ACC has MYB overexpression and MYB‐NFIB gene fusions, while Notch mutations are associated with aggressive behavior.
Shivani Thoidingjam, Sushmitha Sriramulu, Asya Haider Muratoglu, Stephen Brown, Oudai Hassan, Benjamin Movsas, Haythem Ali, Steven Chang, Patrick Ha, Farzan Siddiqui, Shyam Nyati   +10 more
wiley   +1 more source