Results 181 to 190 of about 111,505 (234)

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

The correlation between blastocyst morphological parameters and chromosomal euploidy, aneuploidy and other chromosomal abnormalities following pre-implantation genetic testing-a single center retrospective study. [PDF]

Arch Gynecol Obstet
Hochberg A, Amoura L, Zhang XY, Zhang L, Dahan MH, Ao A.   +5 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

Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients. [PDF]

J Clin Lab Anal
Akalin H, Sahin IO, Paskal SA, Tan B, Yalcinkaya E, Demir M, Yakubi M, Caliskan BO, Ekinci OG, Ercan M, Kucuk TY, Gokgoz G, Kiraz A, Per H, Ozgun MT, Baydilli N, Ozkul Y, Dundar M.   +17 more
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

Genome-Wide, Non-Invasive Prenatal Testing for rare chromosomal abnormalities: A systematic review and meta-analysis of diagnostic test accuracy. [PDF]

PLoS One
Konya M, Czimbalmos A, Loczi L, Koi T, Turan C, Nagy R, Acs N, Hegyi P, Varbiro S, Gal A.   +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

A Decade of Non-Invasive Prenatal Testing (NIPT) for Chromosomal Abnormalities in Croatia: First National Monocentric Study to Inform Country's Future Prenatal Care Strategy. [PDF]

Genes (Basel)
Podobnik P, Meštrović T, Đorđević A, Kurdija K, Jelčić D, Ogrin N, Bertović-Žunec I, Gebauer-Vuković B, Hočevar G, Lončar I, Srebreniković Z, Trobina P, Bitenc M, Dumić-Čule I.   +13 more
europepmc   +1 more source

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, EarlyView.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Temporal Trends in the Epidemiology of Eating Disorders Between 2000 and 2022: A Danish Register Study of Their Incidence and Comorbidities

European Eating Disorders Review, EarlyView.
ABSTRACT Background Eating disorders are debilitating illnesses that often co‐occur with other psychiatric disorders and somatic diseases. Evidence indicates that the incidence of eating disorders has been increasing. We first examine the landscape of EDs over time, including the COVID‐19 period, via assessing the incidence of anorexia nervosa (AN ...
Nadia Micali, Helena L. Davies, Heidi Jeannet Graff, Laust H. Mortensen, Emilie R. Hegelund   +4 more
wiley   +1 more source