Results 81 to 90 of about 2,462,658 (261)

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin, Alicia Janvier, Tristan Moujellil‐Legagneur, Marine Blaquière, Alexis Chaussy, Romane Privé, Fabrice Duprat, Massimo Mantegazza, Etienne Audinat, Nicola Marchi, Noémie Cresto   +10 more
wiley   +1 more source

Rett Syndrome; Diagnostic Criteria

Pediatric Neurology Briefs, 1988
Diagnostic criteria for Rett Syndrome are proposed by the International Rett Syndrome Association and the Centers for Disease Control, Koger Center, F-37, Atlanta, GA.
J Gordon Millichap
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

Regression in Rett syndrome: Developmental pathways to its onset

Neuroscience and Biobehavioral Reviews, 2019
HighlightsEarly development of RTT is not asymptomatic.Signs are reported for early motor, speech‐language and socio‐communicative development.Hand stereotypies may occur during the first months of life.The concept of regression in RTT needs re ...
C. Einspieler, P. Marschik
semanticscholar   +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

Epilepsy and genetic in Rett syndrome: A review

Brain and Behavior, 2019
Rett syndrome (RTT) is a severe X‐linked neurodevelopmental disorder that primarily affects girls, with an incidence of 1:10,000–20,000. The diagnosis is based on clinical features: an initial period of apparently normal development (ages 6–12 months ...
F. Operto, Roberta Mazza, G. Pastorino, A. Verrotti, G. Coppola   +4 more
semanticscholar   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

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

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

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