Results 191 to 200 of about 1,997,745 (357)

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Seminars in epileptology: Holistic management of epilepsy in adults with intellectual development disorders

Epileptic Disorders, EarlyView.
Abstract This seminar addresses the complexity of the management of epilepsy in adults with intellectual development disorders (IDD), advocating holistic and multidisciplinary care aligned with the learning objectives of the International League Against Epilepsy. Epilepsy is significantly more prevalent in people with IDD, presenting unique diagnostic,
Elena Fonseca, Antonella Riva, Samuel López‐Maza, Malin Zaddach, Marie‐Claire Porter, Ingo Borggraefe, Lance Watkins, Andreas Schulze‐Bonhage, Rohit Shankar, Pasquale Striano, Lina Nashef   +10 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Health literacy and prenatal screening acceptability for hemoglobinopathies in Tunisia: a pilot mediation study. [PDF]

J Community Genet
Maaoui F, Saad NB, Zarrouk E, Mahjoub S, Menif S, Moumni I.   +5 more
europepmc   +1 more source

Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study

Objective To study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies. Method Data were collected using Q methodology.
Ternby, Ellen, Ingvoldstad Malmgren, Charlotta, Malmgren, CI, Axelsson, Ove, Georgsson, S, Axelsson, Ove,, Georgsson, Susanne,, Axelsson, O, Ternby, Ellen,, Ternby, E, Georgsson, Susanne, Ingvoldstad Malmgren, Charlotta,   +11 more
core   +1 more source

Biofluid‐specific variations in circulating 5′ transfer RNA fragments during ictal and interictal states in experimental temporal lobe epilepsy

Epilepsia, EarlyView.
Abstract Objective Circulating small noncoding RNAs represent potential biomarkers of temporal lobe epilepsy (TLE). Recently, two transfer RNA fragments (tRFs), 5′tRF Glu‐CTC and Gly‐GCC, were found to be elevated in plasma samples collected in advance of a seizure in TLE patients, suggesting they may serve as potential wet biomarkers of seizure risk ...
Marie Soukupova, Elena Perez Morrissey, Annunziata Guarino, Pietro Marino, Cristiana Pareo, Nicolò Birtolo, Saad Zaheer, Rachel Stewart, Ina Woods, Felix Rosenow, Hajo Hamer, Péter Körtvélyessy, Shona Pfeiffer, David C. Henshall, Jochen H. M. Prehn, Michele Simonato   +15 more
wiley   +1 more source

Discomfort in the Unexpected: A Mixed-Methods Study on Australian Clinicians' Experiences of Explaining Prenatal Screening Results. [PDF]

Aust N Z J Obstet Gynaecol
Anderson MB, Cooke E, Thorpe K, Chawla JK.   +3 more
europepmc   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Extremes of Fetal Fraction on Noninvasive Prenatal Screening and Placental Histopathology: Is There an Association? [PDF]

J Clin Med
Stanley ZD, Besmer S, Hong L, Zierold M, Fey E, Huang R, Vogler C, Guerrero J, Chavan NR.   +8 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