Results 221 to 230 of about 125,822 (294)

Cell-free DNA test for fetal chromosomal abnormalities in multiple pregnancies. [PDF]

Acta Obstet Gynecol Scand
Kwan AHW, Gil MM, Xue S, Kwok YKY, Lau D, Fung J, Chan A, Choy KW, Leung TY, Poon LC.   +9 more
europepmc   +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

The impact of psychological distance on preferences for prenatal screening and diagnosis for chromosomal abnormalities: A hierarchical Bayes analysis of a discrete choice experiment. [PDF]

PLoS One
Mohammadi T, Zhang W, Anis AH.
europepmc   +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

Maternal Exposure to Per- and Polyfluoroalkyl Substances and Offspring Chromosomal Abnormalities: The Japan Environment and Children's Study. [PDF]

Environ Health Perspect
Hasegawa K, Motoki N, Inaba Y, Toubou H, Shibazaki T, Nakayama SF, Kamijima M, Tsukahara T, Nomiyama T, Japan Environment and Children’s Study Group.   +9 more
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +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

Invited Perspective: Challenges and Opportunities in Evaluating the Effect of Chemical Mixtures on Congenital Chromosomal Abnormalities. [PDF]

Environ Health Perspect
Liew Z, Guo P.
europepmc   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome-Wide NIPT and What Measurement Threshold Should Be Used? [PDF]

Prenat Diagn
Han MP, Ferreira AEGMT, Elhindi J, McLennan AC, Scott F.   +4 more
europepmc   +1 more source