Results 101 to 110 of about 73,869 (327)

Italian Wikipedia and epilepsy: an infodemiological study of online information-seeking behavior [PDF]

, 2018
Wikipedia is the most commonly accessed source of health information by both healthcare professionals and the lay public worldwide. We aimed to evaluate information-seeking behavior of Internet users searching the Italian Wikipedia for articles related ...
Bragazzi, Nicola Luigi, Brigo, Francesco, Galimberti, Carlo Andrea, Giussani, Giorgia, Lattanzi, Simona, Mecarelli, Oriano, Nardone, Raffaele, Pietrafusa, Nicola, Tassi, Laura   +8 more
core   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
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

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy [PDF]

Seizure, 2011
Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE).
MANGANO, Salvatore, FONTANA, Antonina, Spitaleri,C, MANGANO, Giuseppa Renata, Montalto,M, Zara,F, Barbagallo,A   +6 more
openaire   +3 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Cognitive Function and Absence Epilepsy

Pediatric Neurology Briefs, 2012
Researchers at the University of Rome, Italy studied executive function and attention in 15 children with childhood absence epilepsy (CAE) (8 boys, 7 girls), under treatment with valproic acid, compared to healthy controls.
J Gordon Millichap
doaj   +1 more source

Animals-assisted therapy: A brief review [PDF]

, 2018
In rehabilitative setting, the presence of animals can be considered as an important stimulus for verbal and social communication, and for mood regulation.
Cerroni F., Chisari M. G., D'Oro L., Di Folco A., Gallai B., Geraci D., Giugliano P., Lavano F., Lavano S. M., Magliulo R. M., Marotta R., Marsala G., Murabito P., Parisi L., Pennacchio S., Picciocchi E., Romano P., Ruberto M., Russo D., Salerno M., Sorrentino M., Testa D., Tripi G.   +22 more
core   +1 more source

Validation of Pediatric Idiopathic Generalized Epilepsy Diagnoses from the Danish National Patient Register During 1994‒2019

Clinical Epidemiology, 2022
Magnus Spangsberg Boesen,1 Melita Cacic Hribljan,2 Søren Kirchhoff Christensen,1 Amalie Wandel Klein-Petersen,3 Sahla El Mahdaoui,4 Malini Vendela Sagar,5 Emilie Schou,5 Anna Korsgaard Eltvedt,6 Malene Landbo Børresen,3,7 Maria Jose Miranda,6 Alfred ...
Boesen MS, Cacic Hribljan M, Christensen SK, Klein-Petersen AW, El Mahdaoui S, Sagar MV, Schou E, Eltvedt AK, Børresen ML, Miranda MJ, Born AP, Uldall PV, Thygesen LC   +12 more
doaj  

Phenotype-Based Screening of Synthetic Cannabinoids in a Dravet Syndrome Zebrafish Model. [PDF]

, 2020
Dravet syndrome is a catastrophic epilepsy of childhood, characterized by cognitive impairment, severe seizures, and increased risk for sudden unexplained death in epilepsy (SUDEP).
Anvar, Mana, Baraban, Scott C, Griffin, Aliesha, Hamling, Kyla   +3 more
core   +1 more source