Results 61 to 70 of about 1,536,733 (206)

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

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

Outcomes After Tonsillectomy in Children With Angelman Syndrome

Journal of Otolaryngology - Head and Neck Surgery
Importance Angelman syndrome is a rare genetic disorder characterized by developmental delay, sleep disturbances, and a happy demeanor. Tonsillectomies are common procedures for individuals with Angelman syndrome, and their postoperative recovery may be ...
Meera Chopra BSc, Jennifer M. Siu MD, Erick Sell MD, Jane Summers PhD, Jackie Chiang MD, Evan J. Propst MD, Evelina Pankiv MD, Nikolaus E. Wolter MD   +7 more
doaj   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
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

Genome‐Wide NIPT With Fetal‐Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and ‐Duplication Detection

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the analytical and clinical performance of fetal fraction (FF) enriched genome‐wide noninvasive prenatal testing (GW‐NIPT) for the detection of clinically relevant copy number variants (CNVs) down to 1 Mb. Methods We retrospectively analyzed 10,501 singleton pregnancies tested with FF enrichment‐based GW‐NIPT between ...
Karmen Vaiküll, Priit Paluoja, Signe Mölder, Vadym Gryshchenko, Neeme Tõnisson, Andres Salumets, Kaarel Krjutškov   +6 more
wiley   +1 more source

Fetal Cells in Maternal Blood for Noninvasive Prenatal Testing—Is it Still a Distant Star?

Prenatal Diagnosis, EarlyView.
ABSTRACT Accurate and safe prenatal diagnosis of severe genetic disorders remains challenging despite advances in genomic technologies and increased use of cell‐free noninvasive prenatal testing (cfNIPT). Currently, approximately half of pathogenic copy number variants (pCNVs) and most monogenic disorders are identified only postnatally.
Ripudaman Singh, Katarina Ravn, Line Dahl Jeppesen, Maria Bach Laursen, Maibritt Nøgaard Lauridsen, Mathias Kølvraa, Marlene Christina Nielsen, Bolette Hestbek Nicolaisen, Inga Baach Cristensen, Morten Muhlig Nielsen, Britt Kidmose Ardal, Lars Henning Pedersen, Mads Tang Dalsgaard, Ida Vogel, Lotte Hatt   +14 more
wiley   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Angelman Syndrome

Madaan M, Warner D, Corado A.
europepmc   +2 more sources