Results 161 to 170 of about 8,257 (246)

Deprescription of Psychotropics in Children and Adolescents: Systematic Review of Guidelines and Development of a Deprescribing Algorithm

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 3, September 2026.
ABSTRACT Background Psychotropics are increasingly prescribed in paediatrics despite limited evidence regarding their benefits and effectiveness. Although deprescribing approaches are established in adults, structured paediatric strategies remain poorly defined.
Paul‐Benoît Fargier, Mark Horowitz, Rodolphe Charles, Valérie Rousselon, Erik Fakra, Marie‐Noëlle Beyens, Marie‐Laure Laroche   +6 more
wiley   +1 more source

One Size Does Not Fit All: Novel Individualized Use of Dexamethasone in Infantile Epileptic Spasms Syndrome. [PDF]

Neurol Ther
Kabak E, Leitner IC, Stark B, Gröppel G.   +3 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, Volume 13, Issue 8, Page 1543-1557, August 2026.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

A model-based cost-effectiveness estimates of hormonal therapy in Indian children with infantile epileptic spasms syndrome. [PDF]

Epilepsia Open
Devi N, Madaan P, Bharti SK, Sahu JK, Bansal D.   +4 more
europepmc   +1 more source

The Rhythmic and the Metronomic: On Charlie Chaplin's Gait

Critical Quarterly, EarlyView.
Matthew Beaumont
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

A Case of Infantile Epileptic Spasms Syndrome with the <i>SPTBN1</i> Mutation and Review of βII-Spectrin Variants. [PDF]

Genes (Basel)
Jang HN, Ryu J, Kim SS, Moon JH.
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1856-1861, August 2026.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery. [PDF]

Epilepsy Behav Rep
Pentz R, Jones K, Mesterman R, RamachandranNair R, Otsubo H, Ochi A, Yau I, Donner EJ, Ibrahim GM, Jain P, Whitney R.   +10 more
europepmc   +1 more source

Tuberous Sclerosis Complex (Bourneville‐Pringle Disease) With Congenitally Right Solitary Kidney in a 14‐Year‐Old Male Adolescent

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT The coexistence of tuberous sclerosis complex (TSC) with a congenital solitary kidney is exceptionally rare and worsens prognosis. This combination increases the risk of renal failure, requiring meticulous monitoring, tailored surveillance, and renal preservation strategies.
Animaw Lingerew Dagnaw, Asressie Mamo Alemayehu, Gebre Hailu Dejen, Astarkew Alene Abejehu, Kindye Wale Kassie   +4 more
wiley   +1 more source