Results 61 to 70 of about 18,037 (234)

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence [PDF]

, 2016
ObjectivesWe developed clinical guidelines for the management of bone health in Rett syndrome through evidence review and the consensus of an expert panel of clinicians.
Woodhead, H., Leonard, Helen, Brismar, Torkel, Downs, Jenny, Lane, Jane, Bisgaard, A., Engerström, Ingegerd Witt, Weiss, Batia, Siafarikas, A., Bruria Ben-Zeev, Lotan, Meir, Coppola, Giangennaro, Ben Zeev, Bruria, Shapiro, J., Geerts, S., Siafarikas, Aris, Craig Munns, Kathleen Motil, Ward, L., Mercedes Pineda, Birgit Syhler, Jones, M., Anne-Marie Bisgaard, Brismar, T., Michael Freilinger, Bisgaard, Anne-Marie, Downs, Jennepher, Woodhead, Helen, Ward, Leanne M., Bisgaard, Anne Marie, Munns, C., Syhler, B., Ingegerd Witt Engerström, Helen Woodhead, Larsson, G., Helen Leonard, Pineda, M., Giangennaro Coppola, Ellaway, C., Freilinger, M., Thompson, Sue, Tarquinio, D., Batia Weiss, Pineda, Mercedes, Engerström, I., Munns, Craig, Motil, Kathleen, Sue Fyfe, Carolyn Ellaway, Fyfe, S., Torkel Brismar, Suzanne Geerts, Jay R Shapiro, Jefferson, Amanda, Syhler, Birgit, Humphreys, Peter, Skinner, Steven, Witt Engerström, Ingegerd, Daniel Tarquinio, Alan Percy, Skinner, S., Fyfe, Sue, Lane, J., Mary Jones, Jenny Downs, Amanda Jefferson, Leonard, H., Weiss, B., Percy, Alan, Jane Lane, Percy, A., Leanne M Ward, Tarquinio, Daniel, Freilinger, Michael, Gunilla Larsson, Steven Skinner, Jefferson, A., Jones, Mary, Geerts, Suzanne, Sue Thompson, Larsson, Gunilla,, Humphreys, P., Aris Siafarikas, Coppola, G., Shapiro, Jay R., Meir Lotan, Thompson, S., Ellaway, Carolyn, Motil, K., Larsson, Gunilla, Ben-Zeev, B., Ben-Zeev, Bruria, Peter Humphreys, Lotan, M.   +93 more
core   +1 more source

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Orphanet Journal of Rare Diseases
Background Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder associated with multiple neurologic impairments. Previous studies have shown challenges to the quality of life of individuals with RTT and their caregivers.
Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Jenny Downs, Helen Leonard, Paige Nues, Girish D. Sharma, Theresa E. Bartolotta, Gillian S. Townend, Leopold M. G. Curfs, Orietta Mariotti, Claude Buda, Heather M. O’Leary, Lindsay M. Oberman, Vanessa Vogel-Farley, Katherine V. Barnes, Christopher U. Missling   +16 more
doaj   +1 more source

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Rett Syndrome. Case report [PDF]

, 2019
Introducción: el síndrome de Rett es un trastorno del desarrollo neuropsicológico  poco frecuente, ocurre casi exclusivamente en las niñas y provoca una discapacidad progresiva.
Rivero, Omar Hernández, Hernández Rivero, Odalys, Pérez Fernández, Addys   +2 more
core   +1 more source

IQSEC2-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature

Frontiers in Pediatrics
Rett syndrome, related to methyl-CpG binding protein 2 (MECP2), primarily affects females, though recent studies have identified additional causative genes, such as IQ motif and SEC7 domain-containing protein 2 (IQSEC2), which mainly affect males and are
Li Cheng, Li Cheng, Bo Lei, Li Geng, Dan Li, Chaobin Zhou, Chengfang Yan, Qingtao Chen, Maoqiang Tian, Maoqiang Tian   +9 more
doaj   +1 more source

Differential diagnosis of Rett and Angelman syndromes: final diagnosis of a case using genetic analysis

Psychiatry and Clinical Psychopharmacology, 2021
The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay, Davut Gül, Teoman Söhmen   +2 more
doaj  

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Oral Manifestations of Rett Syndrome—A Systematic Review [PDF]

, 2021
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as ...
Mariam Khawaja, Francesco Amenta, Syed Sarosh Mahdi, Syed Saad B. Qasim, Hafsa Abrar Jafri, Raheel Allana   +5 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source