Results 131 to 140 of about 102,585 (258)

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

Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma

Haematologica, 2020
Junwon Lee, Borahm Kim, Hyeonah Lee, Heejung Park, Suk Ho Byeon, Jong Rak Choi, Sung Chul Lee, Seung-Tae Lee, Christopher Seungkyu Lee   +8 more
doaj   +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

Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia. [PDF]

BMC Med Genomics
Luo J, Li K, Yang R, Tang M, Ge J.
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Case report: Whole-exome sequencing reveals a novel variant in a patient with epilepsy presenting with fever. [PDF]

Front Genet
Guo W, Song D, Cheng K, Wang C, Wang Y, Yang X, Lin Y, Jiang X, Liu X, Lan L.   +9 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

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient. [PDF]

Birth Defects Res
Kerkeni N, Kharrat M, Kraoua L, Achour A, Maazoul F, Mrad R, Trabelsi M.   +6 more
europepmc   +1 more source

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing. [PDF]

Br J Ophthalmol
Wang L, Cao J, Yang D, Yu Y, Wang Z, Xing S, Wang M, Yu X, Zhou X, Zhao J.   +9 more
europepmc   +1 more source

Characterization of a Familial Goldenhar Syndrome Case Using Whole-Exome Sequencing. [PDF]

Genes (Basel)
Bejaoui Y, Al-Sarraj Y, Al-Hage J, Bitar FF, El Hajj N, Nemer G, Kurban M.   +6 more
europepmc   +1 more source