Results 91 to 100 of about 45,438 (256)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Spinal Muscular Atrophy— Summary for Nutritional Care

, 2010
The Consensus Statement for Standard of Care in Spinal Muscular Atrophy was published in 2007 and provided guidance for interdisciplinary teams charged with the care of patients with spinal muscular atrophy (SMA).
Susan Konek, Donna DiVito
core   +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

Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes

Spinal muscular atrophy (SMA) genes, SMN1 and SMN2, produce multiple circular RNAs (circRNAs), including C2A-2B-3-4 that encompasses early exons 2A, 2B, 3 and 4.
Ottesen, Eric, Luo, Diou, Lee, Ji Heon, Singh, Ravindra   +3 more
core   +2 more sources

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

, 2019
Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric ...
Shervin Badv R, Ghahvechi Akbari M, Rahimi-Dehgolan S, Rashidi-Nezhad A, Nilipour Y   +4 more
core  

Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry [PDF]

Background and Objectives: Chronic pain is a common symptom in various types of neuromuscular disorders. However, for patients with spinal muscular atrophy (SMA), the literature regarding chronic pain is scarce.
Scheidegger, Olivier, Steiner, L., Anne Tscherter, Regina Schlaeger, Neuwirth, C., Steiner, Leonie, Enzmann, Cornelia, Stettner, Georg M., Andrea Klein, Paolo Ripellino, Jacquier, D., Carda, Stefano, Tscherter, A., Henzi, B., Bettina Henzi, Mattia Branca, Stettner, G.M., Georg M. Stettner, Schlaeger, Regina, Fluss, J., Jacquier, David, Schreiner, B., Klein, A., Cornelia Enzmann, Olivier Scheidegger, Schlaeger, R., Stefano Carda, Stettner, Georg M, Ripellino, Paolo, Schreiner, Bettina, Branca, Mattia, Enzmann, C., Klein, Andrea, Fluss, Joel Victor, Joël Fluss, Carda, S., Fluss, Joël, Neuwirth, Christoph, Branca, M., Tscherter, Anne, Bettina Schreiner, Scheidegger, O., Leonie Steiner, David Jacquier, Ripellino, P., Swiss-Reg-NMD Group, Henzi, Bettina, Christoph Neuwirth   +47 more
core   +1 more source

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

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Assessing Clinical Severity and Prognosis in Adolescents With Anorexia Nervosa and Atypical Anorexia Nervosa Using the Albumin‐Globulin Ratio

European Eating Disorders Review, EarlyView.
ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan, Ayşe Bilge Baklaci, Yelda Kiliç, Sinem Akgül, Nilgün Özgül, Melis Pehlivanturk Kizilkan   +5 more
wiley   +1 more source

Dexmedetomidine infusions improve cardiovascular and renal function in anaesthetised, experimentally endotoxaemic horses

Equine Veterinary Journal, EarlyView.
Abstract Background Dexmedetomidine infusions are beneficial in anaesthetised endotoxaemic horses when administered concurrent to endotoxin, but post‐conditioning effects are unknown. Objectives To evaluate whether a dexmedetomidine infusion is beneficial in horses administered Escherichia coli O55:B5 lipopolysaccharides (LPS) endotoxin prior to ...
Sera Lee, Rachel C. Hector, Lynn Pezzanite, Eric Gilleland, Marlis L. Rezende   +4 more
wiley   +1 more source