Results 41 to 50 of about 9,448 (189)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice [PDF]

, 2021
Matthew C. Judson, Charles Shyng, Jeremy M. Simon, Courtney R. Davis, A. Mattijs Punt, Mirabel T. Salmon, Noah W. Miller, Kimberly Ritola, Ype Elgersma, David G. Amaral, Steven J. Gray, Benjamin D. Philpot   +11 more
openalex   +1 more source

UBE3A Inhibits Trophoblast Cell Migration and Invasion by Promoting ITGB1 Degradation and Affecting PI3K/AKT Signaling

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Preeclampsia (PE) is an obstetric disease that is characterized by reduced migration and invasion of placental trophoblast cells. Here, the effects of the E3 ubiquitin ligase UBE3A on the migration and invasion of trophoblast cells were evaluated.
Xiu‐Jun Li, Ning Wang, Fan Jiang, Jie‐Cheng Yang, Yan‐Yun Wang, Kun Wang   +5 more
wiley   +1 more source

Implications of uniparental disomy in forensic kinship testing: A case study of paternal isodisomy on chromosome 3

Journal of Forensic Sciences, EarlyView.
Abstract In typical inheritance, a child receives one chromosome of each pair from each parent. In rare cases, however, both chromosomes may be inherited from the same parent, a phenomenon known as uniparental disomy (UPD). In forensic kinship testing, UPD can lead to Mendelian inconsistencies between parent and child, increasing the risk of ...
Hannah Fontanil, Sharlize Pedroza Matute, Thomas Haizel, Sasitaran Iyavoo   +3 more
wiley   +1 more source

Angelman Syndrome

Revista Información Científica, 2022
Introduction: Angelman Syndrome is a rare inherited neurodevelopmental disorder that affects 1 in 10,000 to 24,000 newborns. This condition includes developmental desability, intellectual disability, severe speech disability, movement and balance ...
Daniela Abigail Cobo-Álvarez, Ana Cristina Veloz-Pico, Alejandro Sebastián Samaniego-Vargas   +2 more
doaj  

Exposure to anesthesia during delivery and risk of autism spectrum disorder: A retrospective cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Cesarean delivery with general anesthesia was associated with a modestly increased risk of autism in offspring compared to vaginal delivery while cesarean delivery with neuraxial anesthesia was not. Similar findings were seen across different surgery types and ethnic groups, suggesting that general anesthesia may be relevant to autism risk.
Aviv Ben Kish, Yair Binyamin, Analya Michaelovski, Gal Meiri, Idan Menashe   +4 more
wiley   +1 more source

A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations [PDF]

, 2023
Han Dang, Sandhya Srinivasa, Sun Young Lee, Clifford Alprin   +3 more
openalex   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory

Journal of Patient-Reported Outcomes
Aims Caregivers rate improved communication ability as one of the most desired outcomes for successful interventions for individuals with Angelman syndrome (AS). When measuring communication ability in clinical trials, the reliability of such measures is
Dandan Chen, Christina K. Zigler, Li Lin, Nicole Lucas, Molly McFatrich, Jennifer Panagoulias, Allyson Berent, Bryce B. Reeve   +7 more
doaj   +1 more source

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers

Journal of Child Psychology and Psychiatry, EarlyView.
Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Christina K. Zigler, Molly McFatrich, Nicole Lucas, Kate Plyler, Leslie Zapata‐Leiva, Kelly Gordon, Harrison N. Jones, Li Lin, Jennifer Kern, Abigail Radar, Dandan Chen, Elika Bergelson, Kate Still, Brigette Hinger, Christal G. Delagrammatikas, Sarah Poliquin, Brittany P. Short, Liz Marfia‐Ash, Kimberly Stephens, Haley O. Oyler, J Michael Graglia, Kali Worth, Charlene Son Rigby, James R. Goss, Bo Bigelow, Geraldine Bliss, Karen Beatty, Leah Schust Myers, Melissa Thelen, Nuala Summerfield, Terry Jo Bichell, Bryce B. Reeve   +31 more
wiley   +1 more source