Results 101 to 110 of about 8,236 (231)

Neuroimaging and neurophysiology in infantile‐onset epilepsy after neonatal stroke

Developmental Medicine &Child Neurology, EarlyView.
This population‐based retrospective cohort study of 55 newborn infants demonstrated that neonatal MRI and neonatal neurophysiology (amplitude‐integrated EEG, conventional EEG, and somatosensory evoked potentials) combined with follow‐up EEGs during the first year of life provide practical tools for identifying infants at the highest risk of developing ...
Sinikka La Grassa, Kirsi Mikkonen, Marjo Metsäranta, Sanna Toiviainen‐Salo, Sampsa Vanhatalo, Leena Lauronen, Päivi Nevalainen   +6 more
wiley   +1 more source

Attrition in a telehealth caregiver‐mediated behavioral intervention for children with tuberous sclerosis complex: A mixed‐methods study

Developmental Medicine &Child Neurology, EarlyView.
Exploratory quantitative analyses suggested that higher seizure severity and COVID‐era enrollment were associated with lower intervention completion, while qualitative findings identified cumulative caregiver burden, medical instability, competing demands, and perceived intervention fit as contributors to attrition.
Carly Hyde Tillis, Connie Kasari, Nicole McDonald, Monique Vobecky, Maria Pizzano, Jonathan Panganiban, Brandon Gharapetian, Elise Y. Tran, Charles A. Nelson, Elizabeth A. Thiele, Shafali Jeste   +10 more
wiley   +1 more source

“Not Lower Class, Lazy Class”: Food Loathing as Class Abjection and Distinction via Instagram Comments on Mama J. Rae's Lunchbox‐Packing Video

Journal of Sociolinguistics, EarlyView.
ABSTRACT This article examines 4206 Instagram comments on a lunchbox‐packing video posted by Mama J. Rae, who self‐identifies as a “lower middle class wife.” Her excessive use of processed foods and sugary beverages provokes negative responses, many of which explicitly connect her lunchbox‐packing practices to class identity.
Hanwool Choe
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

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +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

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals

Epilepsia Open, Volume 11, Issue 4, Page 1159-1170, August 2026.
Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano, Delphine Breuillard, Anais Thimon, Nicole Chemaly, Rima Nabbout   +4 more
wiley   +1 more source

Clinical and Evolutionary Aspects of CDKL5-Related Developmental Epileptic Encephalopathy: A Case Report. [PDF]

Cureus
Setouani S, Khabbach K, Lamzouri A, El Boussaadni Y, Oulmaati A.   +4 more
europepmc   +1 more source