Results 101 to 110 of about 3,757,153 (283)
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 +7 more
wiley +1 more source
Rett syndrome modeling goes simian
, 2017 Rett syndrome modeling in monkey mirrors the human disorder.
Novarino, Gaia ; https://orcid.org/ +1 more
core +1 more source
Pediatric Neurology Briefs, 1987 The electroencephalographic (EEG) characteristics of Retts syndrome were studied in 17 girls between the ages of 1 and 16 yrs at the Sections of Neurophysiology and Pediatric Neurology, Baylor College of Medicine and The Methodist Hospital, Houston, TX.
openaire +4 more sources
Epilepsia Open, EarlyView.Abstract Objective Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of epilepsy‐related mortality, particularly in individuals with Developmental and Epileptic Encephalopathies (DEEs). The goal of this work is to assess SUDEP‐related knowledge, information practices, emotional and psychological impact, and the use of preventive measures
José Ángel Aibar +8 more
wiley +1 more source
Rett syndrome: Neurologic and metabolic aspects [PDF]
, 2013 Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1954 by Andreas Rett, an Australian neuropediatrician.
Hagebeuk, E.E.O.
core +3 more sources
Rett Syndrome without MECP2 Mutation in a Pakistani Girl
Life and Science, 2020 Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl
Rubina Dad +4 more
doaj +1 more source
Epilepsia Open, EarlyView.Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher +11 more
wiley +1 more source
, 1988 The clinical peculiarities and differential diagnosis of Rett syndrome are reviewed from the Department of Pediatrics Children's Clinics, East Hospital, Goteborg ...
J Gordon Millichap, Millichap, J. Gordon
core +1 more source
Sphingolipid Metabolism Perturbations in Rett Syndrome
Metabolites, 2019 Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2.
Gerarda Cappuccio +6 more
doaj +1 more source
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
International Journal of Molecular Sciences, 2019 Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females.
S. Vidal +5 more
semanticscholar +1 more source