Results 51 to 60 of about 18,028 (242)

EEG Findings in Patients with Rett Syndrome

, 2017
Objectives: Rett syndrome (RS) is a neurodevelopmental disorder that primarily affects girls and is characterized by microcephaly, regression of language, loss of effective hand use, epilepsy, and electroencephalogram (EEG) abnormalities.
Oge, Ali Emre, A. Emre ÖGE, Eraksoy, Mefkure, Doğan Dinç ÖGE, Zuhal YAPICI, Yapici, Zuhal, Ayta, Semih, Gurses, Candan, Semih AYTA, Mefkûre ERAKSOY   +9 more
core   +1 more source

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +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

Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials

Brain Sciences
Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of ...
Adele Gaspar Lopes, Sampath Kumar Loganathan, Jayalakshmi Caliaperumal   +2 more
doaj   +1 more source

Functional Recovery with Electro-Acupuncture Stimulation in an Mecp2-Knockout Rat Model of Rett Syndrome

Engineering, 2022
Rett syndrome is a progressive neurodevelopmental disorder that lacks effective treatments. Although deep-brain stimulation can alleviate some symptoms in Rett model mice, this interventional manipulation requires deliberate surgical operations. Here, we
Yanhong Sun, Zhifang Chen, Yi Xu, Yuefang Zhang, Zhilei Ge, Chenglie Lin, Yi Zhou, Fangfei Zhao, Meiling Yan, Xinyi Liu, Ying Zhu, Jimin Gao, Hongyi Li, Lihua Wang, Jun Hu, Zilong Qiu, Chunhai Fan   +16 more
doaj   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 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

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

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